No full-text available
To read the full-text of this research,
you can request a copy directly from the authors.
Changes in the management of children with intersex conditions
Abstract
About a decade ago, a spate of articles were published that reviewed and criticized the overall management of newborns with intersex conditions.1, ² These articles stimulated critical examination of the broad area of intersexuality and of its management.
... For the past 2 decades, medical and surgical treatment approaches for managing 46,XY disorders of sex development (DSD) have received intense scrutiny: �rst from patient advocates followed by healthcare providers, researchers, and academics [1][2][3][4][5][6][7]. A combination of improved understanding of the impact of early hormone exposure on behavior, accrual of less-than-satisfactory gonadal and genital surgery outcomes data, and the formation of advocate groups demanding change in standards of medical and surgical care has resulted in disagreement among physicians about optimal treatment options for patients [8,9]. ...
... In contrast, discordance between GR and sex of rearing appears to be less important [9,10]. Understanding long-term psychosexual development in people with 46,XY DSD is paramount for optimizing quality of life and psychological outcomes for patients diagnosed in infancy for whom genital ambiguity exists [3,4,[8][9][10]. ...
... While we do not fully appreciate how receiving clitoroplasty and/or vaginoplasty impact GI and GR development, limited data indicate that patients with 46,XY DSD reared female who ultimately develop a male gender do not experience different cosmetic or functional outcomes from their genitoplasty than those who develop a female GI and GR [65,111]. It is increasingly becoming apparent that calls for a reassessment of the appropriateness of proceeding with feminizing genitoplasty in young girls with 46,XY DSD is primarily a question of improving quality of life and sexual function for these people, and less of a concern that GI development will be discordant with their female sex of rearing [2][3][4][5][6][7][8][9]112]. As more parents of girls with 46,XY DSD decide to postpone genitoplasty for their daughters until they can provide assent or informed consent for these procedures themselves, a clearer understanding of the impact of having or not having these surgeries on gender development may be possible. ...
Variables that impact gender development in humans are difficult to evaluate. This difficulty exists because it is not usually possible to tease apart biological influences on gender from social variables. People with disorders of sex development, or DSD, provide important opportunities to study gender within individuals for whom biologic components of sex can be discordant with social components of gender. While most studies of gender development in people with 46,XY DSD have historically emphasized the importance of genes and hormones on gender identity and gender role, more recent evidence for a significant role for socialization exists and is considered here. For example, the influence of parents' perceptions of, and reactions to, DSD are considered. Additionally, the impact of treatments for DSD such as receiving gonadal surgeries or genitoplasty to reduce genital ambiguity on the psychological development of people with 46,XY DSD is presented. Finally, the role of multi-disciplinary care including access to peer support for advancing medical, surgical and psychosexual outcomes of children and adults with 46,XY DSD, regardless of sex of rearing, is discussed.
... While many of these recommendations are currently followed, in the clinical setting preserving female fertility is often given higher priority than preserving male fertility. Academics hypothesize that "this difference might be because physicians and parents believe that motherhood is more important to females than fatherhood is to males" (Diamond & Beh, 2008). It is ethically troubling that important clinical decisions are being made based on deep-seated societal gender-role assumptions. ...
... It is ethically troubling that important clinical decisions are being made based on deep-seated societal gender-role assumptions. And while early disclosure to both parents and patients is now the norm, insufficient psychological counseling and support are still major problems (Diamond & Beh, 2008). This raises the question: is it truly beneficent for physicians to impart potentially psychologically damaging information without giving pediatric patients the tools to process it? ...
In Western nations, there is growing agreement about ethical approaches to clinical intersex management. At the same time, as Western-trained physicians increasingly encounter intersex patients in other parts of the world, new ethical tensions arise. Which cultural values are fair parameters for gender-assignment decision-making, particularly in cultural milieus where there is social and economic inequality between the sexes? How can physicians uphold universal bioethical principles while remaining culturally sensitive? Physicians have a primary commit- ment to patient beneficence and universal human rights, requiring physicians to promote concordance between the child’s assigned gender and his or her likely future gender identity. Ultimately, the potential patient distress posed by gender dysphoria fundamentally outweighs the influence of local cultural factors such as economics, gender politics, and homophobia.
... The most common clinical diagnoses and symptoms reported in intersex individuals are depression, anxiety [12][13][14][15][16][17][18][19], isolation [14], stress [2], a low self-esteem, a low selfconcept, a low quality of life [20], low sexual satisfaction and sexual traumas [2], a low sexual quality of life [21], difficulties in sexual development adaptation [22], difficulties in searching for partners, a lack of identification with a community group, and the feeling of a lack of understanding [23]. Moreover, the suicide attempt rate is 6.8% higher among intersex individuals than endosex individuals [24]. ...
Purpose:
Intersex is an umbrella term used to describe the diversity or differences in the characteristics of physical sexual development. Approximately 1.7% of the population are born intersex, and 1 in every 2000 babies at birth presents genital variation. Unfortunately, there is a lack of research on the health of intersex-identifying persons in Latin America. This study aimed to document experiences of discrimination and violence among self-identifying intersex individuals in Puerto Rico and to determine if there is a significant difference in the quality of life, psychological well-being, and social well-being between intersex-identifying and endosex individuals.
Methods:
This was a quantitative method pilot study with a cross-sectional approach and exploratory comparative group design. An online survey was used, where a total of 12 self-identifying intersex adult participants were recruited, and 126 endosex adult participants served as a comparative group.
Results:
The findings show that 83% of the participants reported experiences of discrimination and different types of violence due to their intersexuality. There was a significant difference between the intersex-identifying and endosex groups in psychological well-being, including in three of its dimensions (positives relations, autonomy, and environmental mastery). However, there were no significant differences between the groups in quality of life or social well-being.
Conclusion:
The findings of this study provide a preliminary understanding of the health disparities of intersex-identifying individuals in Puerto Rico and suggest the need for more profound research, especially the inclusion of other Caribbean and Hispanic countries. The findings also preliminarily imply the need for local and global interventions to reduce physical and mental health disparities and to improve health, quality of life, and well-being among intersex-identifying individuals.
... The pre-differentiation phase refers to a phenotype that is similar in male and female. Hormonal changes during the differentiation phase result in internal and external morphology that differentiates the fetus as female, male, or in rare instances, intersex (Diamond & Beh, 2008). At the moment of birth, family, society, culture, and physical environment in which the infant is raised shape and nurture aspects of sexual development. ...
... Early one-stage reconstructive surgery, although demanding, allows the use of all available tissue [62,64]. Many centers that treat infants with ambiguous genitalia are shifting from the traditional approach, in which genital reconstructive surgery is performed early and is difficult to reverse, toward an approach that permits postponement of permanent reconstructive surgery until the individual patient can participate in decision-making [65,66]. It is advocated that irreversible gender assignment should be delayed until doctors and family members know more about the child's identity [66]. ...
Puberty is a dynamic period of physical growth, sexual maturation, and psychosocial achievement when an individual first attains fertility and is capable of reproduction. Physical changes that occur during puberty include somatic growth, primary sexual organ development, and the appearance of secondary sexual characteristics. The age of onset varies as a function of sex, ethnicity, health status, genetics, nutrition, and activity level. Puberty is initiated by hormonal changes triggered by the hypothalamus. Sexual maturation can occur at an early age, at the expected time, or late. In clinical practice, it is important to recognize when variations are normal and when referral should be made for further evaluation for delayed growth and sexual maturation. Constitutional delay is a non-pathological variation within normal growth parameters but can cause anxiety for children and parents. Pathologic causes of delayed sexual maturation include hypopituitarism, involvement of the hypothalamus, deficiency of gonadotropin-releasing factor, chronic disease, handicapping disorders, undernutrition, chronic anemia, growth hormone deficiency, and primary gonadal failure. The Tanner criteria should be used in assessing sexual maturation, and bone age evaluation for skeletal growth. Abnormal puberty patterns, investigations, assessment, and management are reviewed.
... However, by using the prefix "inter", the binary model of only having two sexes is still not called into question. In international medical discourse, the term "intersexuality" is increasingly being replaced by the pathologizing term "disorders of sex development" (DSD) (de Silva 2008), or in a less pathologizing way, the word "disorder" is replaced by "differences" or "divergences" (Kl€ oppel 2010, p. 21; Diamond and Beh 2008;Reis 2007). ...
Within both the scientific discourse on workforce diversity, and diversity management practice, intersexuality and transgender issues have hitherto remained marginalized topics. This chapter gives an overview of the discourses on both phenomena, and proposes starting points for more inclusive organizational diversity management initiatives. It is shown that both topics represent different aspects of the category of “gender”. The common practice of conceptually lumping together intersexuality, transgenderism, and sexual orientation can be seen as one important reason that intersexuality and transgenderism are rarely considered in organizational diversity management programs in terms of concrete action. Against this background, a modified, and more integrated approach to structuring the workforce alongside the different dimensions of diversity is proposed. It is shown that the categories of “biological sex and gender”, “gender identity”, and “sexual orientation” cannot be regarded as being separate from each other. They represent, rather, an interrelated organizational field of action that should be considered as being one interrelated topic for organizational diversity practices. This chapter derives this claim theoretically and discusses the consequences for organizational diversity management practices. For most organizations, this would mean a fundamental rethinking of their goals, in terms of workforce diversity, and the shaping of their diversity management programs.
... As we have seen, intersexuality is not a disease unto itself, but simply a variant of nature. Less pathologising alternatives could include "divergences of sex development" (Reis 2007) or "differences of sex development" (Diamond and Beh 2008). From an epistemological point of view, relevant medical evidence would not be precluded or ignored in future, thus encouraging growth and advancement of medical knowledge. ...
In this paper, we aim to criticise the dualistic approach of gender-specific medicine with regard to sex and gender. Firstly, we analyse the definition of intersexuality and reject the idea that it is a disease unto itself. Medicine classifies cases of intersexuality as disorders of sex development, because they do not conform to the dualist scheme that defines an individual’s sex as “either male or female”. However, we argue that there is no compelling reason to label intersexuality as a disease unto itself. In order to support this claim, we then consider some relevant naturalistic conceptions of health and disease. Secondly, we show that gender-specific medicine, and medicine in general, could be improved by abandoning rigid dualism concerning sex and gender. Taking sex and gender pluralism seriously would potentiate us to recognise that intersexual, transsexual, and transgender people have their own specific physiology, pathophysiology, and health concerns, which up to now have been mostly overlooked and unaddressed by gender-specific medicine. It would also encourage us to consider intersexual, transsexual, and transgender people, and to include them in clinical trials, medical research, and treatment. All this would be an ethical, epistemological, and medical improvement.
... Medical information about intersex conditions and their implications are not often understood easily. Persons with intersex conditions and their families may also experience feelings of shame, isolation or depression [5]. ...
... Androgen insensitivity syndrome (AIS) is typically characterized by evidence of feminization (i.e., undermasculinization) of the external genitalia at birth, abnormal secondary sexual development in puberty, and infertility in individuals with a 46, XY karyotype. AIS represents a spectrum of defects in androgen action and can be subdivided into three broad phenotypes; complete androgen insensitivity syndrome (CAIS), with typical female external genitalia; partial androgen insensitivity syndrome (PAIS) with predominantly female, predominantly male, or ambiguous external genitalia, Mild androgen insensitivity syndrome (MAIS) with typical male external genitalia (Diamond and Beh, 2008;Douglas et al., 2010;Pasterski et al., 2010;Wiesemann et al., 2010). ...
Olignecropermia infertility associated with Reifenstein
syndrome in a Sudanese patient
Bedawi Said Bedawi1, Eltayeb Tayrab2* and A.Latief Ashmaig3
1Department of Andrology, Reproductive Health Care Center, Khartoum, Sudan.
2Department of Chemical Pathology, Faculty of Medical Laboratory Sciences, the National Ribat University, P.O. Box 55,
Khartoum, Sudan.
3Department of Obstetrics and Gynecology, Faculty of Medicine, the National Ribat University, P.O. Box 55, Khartoum,
Sudan. P.O. Box 55, Khartoum, Sudan.
Accepted 28 July, 2014
Reifenstein syndrome is a familial form of male pseudohermaphroditism characterized by ambiguous
genitalia or hypospadias, postpubertal, abnormally large breasts, and infertility associated with
sclerosis of the seminal tubules. In the present study, a Sudanese man was visited andrology clinic in
Reproductive Health Care Center (RHCC) in Khartoum, Sudan. The patient complains of primary
infertility for 5 years. He has the history of bilateral undescended testes for which he underwent a
surgery of orchiopexy. The scrotum is not well formed, the penis is small in size, and external urethral
meatus is not present at the tip of penis but inpenoscrotal (hypospadias). His semen showed
oligonecropermia. The patient was diagnosed with infertility due to oligonecrosprmia. Artificial
testosterone supplementation, have a good response on semen volume, concentration and motility,
increasing the chance of success in assisted reproduction techniques for a man with Reifenstein
syndrome.
... In this study, the authors decided, because of criticism about this medical terminology, to use DSD as an abbreviation for divergences of sex development. For debate about an acceptable and appropriate terminology, see Diamond (2009), Diamond and Beh (2008), and Reis (2007). JOURNAL OF SEX RESEARCH, 53(1), 109–124, 2016 Copyright # The Society for the Scientific Study of Sexuality ISSN: 0022-4499 print=1559-8519 online DOI: 10.1080/00224499.2014.1002124 ...
The aims of this mixed-methods study were to: (1) describe the gender experience and level of satisfaction with gender allocation of intersex persons and (2) explore the spectrum
of their gender identities. Of the 69 participants with a number of divergences of sex development (DSD), gender allocation at birth was female in 83% and male in 17%. Seventy-five per cent were satisfied with gender allocation. As adults, 81% lived in the female gender role, 12% in the male role and 7% chose other roles. Nine per cent reported gender change or reallocation. Twenty-four per cent reported an inclusive ‘mixed’ two-gender identity, including both male and female elements, and 3% reported a neither female nor male gender identity. Twenty-six per cent were highly uncertain about belonging to a specific gender, 14% received increased transgender scores on the gender identity questionnaire (GIQ). The dichotomous categorisation of gender fails to capture the gender experiences of a significant proportion of our participants. Uncertainty of belonging to the female or male gender category as well as non-binary identifications highlight the need for alternative gender categories. A reconsideration of the medical approach towards intersexuality, which is currently based on a binary categorisation, is discussed.
... The most important issue in the treatment of DSD is whether they can achieve the ability to adapt to normal life as males or females in future. However, few studies have been conducted to investigate the long-term physical, psychological, and social outcomes of DSD patients undergoing genitoplasty due to high incidence of loss of follow-up, especially in Asian countries [8]. ...
Purpose:
To summarize the experience in treating patients with genitoplasty due to disorders of sex development in China.
Methods:
The operative procedures, gender of rearing, surgical outcome, and psychosocial and family adjustments of 262 patients were reviewed retrospectively.
Results:
At initial diagnosis, the mean age was 14.3 ± 2.8 years (range: 2-38 years). There were 96 children, 133 adolescents, and 33 adults. Follow-up was done every 6 months. Patients with female sex assignment had no urinary incontinence or voiding difficulty. Five patients underwent the second surgery (3%); vaginal dilation was performed in 35 patients with postoperative vaginal stenosis; 12 patients (7.4%) were unsatisfactory with the outcome. For patients with male sex assignment, the median length of penis was 2.2 cm in prepubertal patients, 4.2 cm in pubertal patients, and 5.0 cm in adults; 39 patients developed postvoid dribbling (39%); 21 patients underwent a second surgery (21%); urethral dilation was done in 28 patients (28%) due to urethral stricture; 38 patients were unsatisfactory with the outcome (38%). In addition, 136 patients (83%) with female sex assignment and 54 (54%) with male sex assignment had favorable psychosocial adjustment.
Conclusions:
Patients with male sex assignment have more surgical complications and difficulties in psychosocial adjustment as compared to those with female sex assignment.
... Accompanied by the transformative effect of efforts within the Lawson Wilkins Pediatric Endocrine Society (LWPES), the European Society for Paediatric Endocrinology (ESPE), and the German Network DSD/Intersex, communication and psychosocial support has especially improved678. However, recent publications still point at gaps between ethical guidelines and clinical practice789101112. Confidence in using precise etiology and defining objective outcomes may not be sufficient to determine the appropriate management of a heterogeneous group of children and young adults with DSD [13]. ...
... Accompanied by the transformative effect of efforts within the Lawson Wilkins Pediatric Endocrine Society (LWPES), the European Society for Paediatric Endocrinology (ESPE), and the German Network DSD/Intersex, communication and psychosocial support has especially improved678. However, recent publications still point at gaps between ethical guidelines and clinical practice789101112. Confidence in using precise etiology and defining objective outcomes may not be sufficient to determine the appropriate management of a heterogeneous group of children and young adults with DSD [13]. ...
... Accompanied by the transformative effect of efforts within the Lawson Wilkins Pediatric Endocrine Society (LWPES), the European Society for Paediatric Endocrinology (ESPE), and the German Network DSD/Intersex, communication and psychosocial support has especially improved678. However, recent publications still point at gaps between ethical guidelines and clinical practice789101112. Confidence in using precise etiology and defining objective outcomes may not be sufficient to determine the appropriate management of a heterogeneous group of children and young adults with DSD [13]. ...
Treatment and support of a child with DSD calls for experience and expertise in diagnosis, surgical techniques, understanding of psychosocial issues, and recognizing and accepting the significance of individual values of children, families, and support groups. The range of what is considered "appropriate" care and treatment is still very broad and critics point at major gaps between ethical guidelines and current clinical practice. Based on a qualitative study with 27 members of multidisciplinary teams and support groups, we supplement the professional consensus statements and current ethical guidelines with 14 requirements from four different perspectives, to characterize more fully the responsible treatment and support of children and families affected by DSD. Overall, our findings highlight the importance of close collaborations between different experts and a shift from the often simplified dispute about genital surgeries to a more holistic perspective with a long-term management strategy, which should serve as a cornerstone not only for clinical practice but also for future research and evaluation studies.
... Legal and medical gender reassignment of individuals with a DSD may therefore take place at much younger ages than in persons with GID in the absence of a DSD. The evolution of clinical thinking and management guidelines concerning the indications for gonadectomy and genital surgery in infancy, and current controversies in these areas, are discussed in several recent reviews (Diamond & Beh, 2008; Frimberger & Gearhart, 2005; Hughes et al., 2006; Meyer-Bahlburg, 2009;Preves,2003;Reiner, 2004; Speiser et al., 2010; Sytsma, 2006; Wiesemann et al., 2010). Decisions regarding hormonal and surgical procedures are complicated by the highly variable somatic presentations of the many diverse DSD conditions. ...
Both the diagnosis and treatment of Gender Identity Disorder (GID) are controversial. Although linked, they are separate issues and the DSM does not evaluate treatments. The Board of Trustees (BOT) of the American Psychiatric Association (APA), therefore, formed a Task Force charged to perform a critical review of the literature on the treatment of GID at different ages, to assess the quality of evidence pertaining to treatment, and to prepare a report that included an opinion as to whether or not sufficient credible literature exists for development of treatment recommendations by the APA. The literature on treatment of gender dysphoria in individuals with disorders of sex development was also assessed. The completed report was accepted by the BOT on September 11, 2011. The quality of evidence pertaining to most aspects of treatment in all subgroups was determined to be low; however, areas of broad clinical consensus were identified and were deemed sufficient to support recommendations for treatment in all subgroups. With subjective improvement as the primary outcome measure, current evidence was judged sufficient to support recommendations for adults in the form of an evidence-based APA Practice Guideline with gaps in the empirical data supplemented by clinical consensus. The report recommends that the APA take steps beyond drafting treatment recommendations. These include issuing position statements to clarify the APA's position regarding the medical necessity of treatments for GID, the ethical bounds of treatments of gender variant minors, and the rights of persons of any age who are gender variant, transgender or transsexual.
... 4 And then, from puberty on, were given estrogens to feminize them 1 I refuse to use the acronym DSD to refer to Disorders of Sex Development as suggested by Hughes et al. [61]. The majority of persons with these conditions also hold this feeling as do intersex groups [35,41,58,122]. Referring to DSD as Differences maintains the accepted abbreviation without imparting stigma or negativism. 2 Perhaps the most famous of such individuals is Carolyn Cossy, who appeared as a female James Bond movie character. Her chromosome complement was XXXY. ...
... Instead it sees intersex as being an issue of gender and human rights recognition. With chapters in over 14 countries, the OII is the largest intersex support group in the world (Diamond and Beh, 2008). OII campaigns to "exchange. ...
While rhetorical scholars have long studied social movements, few studies investigate the rhetorical interactions of organizations working within a single movement. In this dissertation, I explore the rhetoric deployed by several social movement organizations and analyze the ways that discourse functions to produce and limit opportunities for the organizations to coalesce and work as a single, unified movement. In this dissertation, I develop a theory of social movement organizations by analyzing the four leading intersex rights organizations in the United States, including the Intersex Society of North America, the Accord Alliance, the Advocates for Informed Choice, and the Organisation Intersex International. I explore how their constructions of organizational identity and their positions on naming, parental informed consent, and gender create opportunities for some to cooperate, while ensuring divergences among other groups. I conclude by discussing the implications these individual debates have on the success of the overall intersex advocacy movement.
... attention by pediatricians, endocrinologists, psychologists, and geneticists, as well as feminists, ethicists, and self-help groups [1][2][3][4][5][6]. A number of articles have been published to clarify the role medicine should play in shaping sex and gender identity in children with DSD. ...
The medical management of differences of sex development (DSD)/intersex in early childhood has been criticized by patients’ advocates as well as bioethicists from an ethical point of view. Some call for a moratorium of any feminizing or masculinizing operations before the age of consent except for medical emergencies. No exhaustive ethical guidelines have been published until now. In particular, the role of the parents as legal representatives of the child is controversial. In the article, we develop, discuss, and present ethical principles and recommendations for the medical management of intersex/DSD in children and adolescents. We specify three basic ethical principles that have to be respected and substantiate them. The article includes a critical discussion of the best interest of the child and of family privacy. The argumentation draws upon recommendations by the working group “Bioethics and Intersex” within the German Network DSD/Intersex, which are presented in detail. Unlike other recommendations with regard to intersex, these guidelines represent a comprehensive view of the perspectives of clinicians, patients, and their families.
Conclusion
The working group identified three leading ethical principles that apply to DSD management: (1) to foster the well-being of the child and the future adult, (2) to uphold the rights of children and adolescents to participate in and/or self-determine decisions that affect them now or later, and (3) to respect the family and parent–child relationships. Nine recommendations for the management of DSD indicate how these ethical principles can spelled out and balanced against each other in the clinical setting.
... blogspot.com/2006/08/three-intersex-activists-defend.html). I use the abbreviation but with the meaning of Differences of Sex Development Diamond and Beh, 2008. Changes In Management Of Children With Differences Of Sex Development (Nature Clinical Practice: Endocrinology & Metabolism. ...
Debate on the relative contributions of nature and nurture to an individual's gender patterns, sexual orientation and gender identity are reviewed as they appeared to this observer starting from the middle of the last century. Particular attention is given to the organization-activation theory in comparison to what might be called a theory of psychosexual neutrality at birth or rearing consistency theory. The organization-activation theory posits that the nervous system of a developing fetus responds to prenatal androgens so that, at a postnatal time, it will determine how sexual behavior is manifest. How organization-activation was or was not considered among different groups and under which circumstances it is considered is basically understood from the research and comments of different investigators and clinicians. The preponderance of evidence seems to indicate that the theory of organization-activation for the development of sexual behavior is certain for non-human mammals and almost certain for humans. This article also follows up on previous clinical critiques and recommendations and makes some new suggestions.
... As part of the award presentation, the group specifically complimented me for disputing the renaming of intersex with the acronym DSD with its meaning of Disorders of Sex Development. This intersex support group praised first encouraging the use of VSD for Variations of Sex Development (Tamar-Mattis & Diamond, 2007) and then DSD with the meaning of Differences of Sex Development (Diamond & Beh, 2008). The latter two acronyms removed the stigma accompanying the use of the word Disorder as part of an identifying characteristic while the latter transformation of DSD maintained the original convenience of the DSD abbreviation. ...
Consistent use of a valid measurement approach is essential for producing replicable research, along with the accumulation and integration of knowledge. Although gender is one of the most studied constructs in marketing, the literature remains muddled regarding a valid measurement of gender. In this work, we review the extant literature to outline the evolution of four main approaches toward conceptualizing and measuring gender. Further, we systematically review the common measures of gender in consumer research and delineate their inherent validity issues and impact on consumer welfare. Finally, we propose solutions for amending common gender measurement practices and directions for future research.
Abnormalities of the external genitalia are documented in about 1:4500 infants. The aim of this chapter is to summarize the most frequent and most important male genitalia tract abnormalities as well as to review their possible medical and surgical approaches. The disorders of male sexual development (DSD) represent the most challenging clinical conditions. They include a wide spectrum of abnormalities ranging from a complete female phenotype to milder defects of androgenization. DSD molecular diagnosis is possible in no more than 20% of cases, and a limited number of patients arrive at a definitive diagnosis. The pathophysiology of milder defects such as isolated cryptorchidism, hypospadias, anorchia, and congenital penile curvature is even less known, although a combination of genetic and environmental underlying factor has been advocated. The presence of an experienced interdisciplinary team including endocrinologists, urologists, geneticists, and psychologists is crucial for the management of all congenital disorders of male genital tract and especially of DSD. In vast majority of cases, the newborn period after gender assignment represents the best period for the first surgical approach. However, the urologists play a crucial role during all lifespan by reviewing prior surgeries, by managing surgical complications, as well as by evaluating the possible need for future surgery. Pediatric endocrinologist is essential for allowing the development of sexual characteristics in line with individual sexual orientation.
This chapter explains the biology of sex determination and how science seeks to categorise sex. It also examines the legal definition of sex and questions the law’s assumption that there are only two sexes. In particular it considers the legal response to intersex people.
DSD, with 46,XY chromosomal complement, comprise a heterogeneous group of conditions, where either the hormones associated with virilisation (androgens) are not produced, or the target organs are unable to respond in a typical manner. Important causes to consider in these individuals are gonadal dysgenesis, variations in androgen synthesis and androgen insensitivity syndrome (AIS)—partial or complete. However, the precise nature of many 46,XY DSD cannot be diagnosed at a molecular level. Improved identification of the underlying molecular variations will hopefully allow for improved understanding of outcomes and management options.
Resumen
Al realizar investigaciones con la comunidad LGBTIQ se observa que la intersexualidad ha sido invisible en la investigación. La intersexualidad es un tema poco conocido debido a su etología biológica y su invisibilidad. Son mínimas las investigaciones que se encuentran de la comunidad intersexual en el campo de la salud mental causando escaso conocimiento tanto por la población en general, como por profesionales de la salud, especialmente psicoterapeutas. El objetivo de esta revisión fue documentar la calidad de vida y panorama de salud de la comunidad intersexual. Se llevó a cabo una revisión de literatura de tipo descriptiva en búsqueda de investigaciones sobre la calidad de vida, la salud de las personas intersexuales. Los resultados sugieren que la comunidad presenta menos calidad en la vida, especialmente en el área sexual y al relacionarse con otras personas En cuanto a la salud mental las personas intersexuales suelen presentar mayores niveles de sintomatología psicológica, tales como la desanimo, ansiedad y la depresión. Además, muchas de las condiciones o síntomas que suscitan la intersexualidad, vienen acompañados con diversas dificultades médicas que empeoran las circunstancias de vida estas personas. En fin, lo inter debe celebrarse e incorporarse mejor en nuestros conceptos de diversidad y alejarnos de la patologización que culmina en la disparidad.
Abstract
When conducting research with the LGBTIQ community is noted that the intersexuality has been invisible in research. The intersexuality is a little-known subject due to its biological ethology and its invisibility. The research we find of the intersexual community in the field of mental health is minimum, producing little knowledge in the general population, and for health professionals, especially psychotherapists. The objective of this review was to document the quality of life and health of the intersex community. A review of descriptive literature was carried out on the quality of life and health of intersex people. The results suggest that the community has less quality in life, especially in the sexual area and the interaction with other people. In terms of mental health, intersex persons usually present higher levels of psychological symptoms, such as discouragement, anxiety and depression. In addition, many of the conditions or symptoms that cause intersexuality, are accompanied by various medical difficulties that worsen the circumstances of life in the population. Nevertheless, the inter should be celebrated and better incorporated into our diversity concepts and get away from pathologization that culminates in disparity.
Disorders of sex development in early lifeGrowth hormone treatment for idiopathic short statureManipulating puberty in girls with severe learning difficultiesReferences
The new edition of Gender Circuits explores the impact of new technologies on the gendered lives of individuals through substantive sociological analysis and in-depth case studies. Examining the complex intersections between gender ideologies, social scripts, information and biomedical technologies, and embodied identities, this book explores whether and how new technologies are reshaping what it means to be a gendered person in contemporary society.
The perception of gender development of individuals with complete androgen insensitivity syndrome (CAIS) as unambiguously female has recently been challenged in both qualitative data and case reports of male gender identity. The aim of the mixed-method study presented was to examine the self-perception of CAIS individuals regarding different aspects of gender and to identify commonalities and differences in comparison with subfertile and infertile XX-chromosomal women with diagnoses of Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) and polycystic ovary syndrome (PCOS). The study sample comprised 11 participants with CAIS, 49 with MRKHS, and 55 with PCOS. Gender identity was assessed by means of a multidimensional instrument, which showed significant differences between the CAIS group and the XX-chromosomal women. Other-than-female gender roles and neither-female-nor-male sexes/genders were reported only by individuals with CAIS. The percentage with a not exclusively androphile sexual orientation was unexceptionally high in the CAIS group compared to the prevalence in "normative" women and the clinical groups. The findings support the assumption made by Meyer-Bahlburg ( 2010 ) that gender outcome in people with CAIS is more variable than generally stated. Parents and professionals should thus be open to courses of gender development other than typically female in individuals with CAIS.
46,XY DSD comprise a very heterogeneous group of conditions where the male hormones are not produced in sufficient quantities or the target organs are unable to respond. The most commonly diagnosed conditions are androgen insensitivity syndrome (AIS) – partial or complete, and defects in androgen synthesis. Many 46,XY DSD, however, are not yet able to be diagnosed at a molecular level, and much current research is directed to trying to resolve this dilemma, to improve treatment options.
The Good Practice Guidelines for the Assessment and Treatment of Adults with Gender Dysphoria is a publication of the Intercollegiate Committee of the Royal College of Psychiatrists. The overall goal of the Good Practice Guidelines is to provide clinical guidance for health professionals to assist transsexual, transgender, and gender nonconforming people with safe and effective pathways to achieving lasting personal comfort with their gendered selves, in order to maximize their overall health, psychological well-being, and self-fulfillment. This assistance may include primary care, gynaecologic and urologic care, reproductive options, voice and communication therapy, mental health services (e.g., assessment, counselling, psychotherapy), and hormonal and surgical treatments. The Good Practice Guidelines are based on the best available science and expert professional consensus. The Good Practice Guidelines articulate standards of care while acknowledging the role of making informed choices and the value of harm reduction approaches. In addition, the Good Practice Guidelines recognizes that treatment for gender dysphoria i.e., discomfort or distress that is caused by a discrepancy between persons gender identity and that persons sex assigned at birth (and the associated gender role and/or primary and secondary sex characteristics) has become more individualized. Some individuals who present for care will have made significant self-directed progress towards gender role changes or other resolutions regarding their gender identity or gender dysphoria. Other individuals will require more intensive services. Health professionals can use the Good Practice Guidelines to help patients consider the full range of health services open to them, in accordance with their clinical needs and goals for gender expression.
Although pediatric urologists can successfully reconstruct even the most severe forms of atypical external male genitalia, and the cosmetic and functional results can be quite good, many of these patients will require multiple operations [25] and a significant percentage [30] will develop complications secondary to the operation(s). Although upon first glance, creating more typical male genitalia in boys who were born with atypical genitalia seems like a noble idea, studies are lacking regarding longterm outcome and quality of life. Long-term studies are needed to better assess surgical outcome, as well as the long-term results of nonoperative intervention - data of which are clearly lacking in the study of DSD patients, especially those reared male with ambiguous external genitalia. The best approach going forward would be further research utilizing networks of DSD teams where all stakeholders, including advocacy groups, are included in the research process.
All forms of genital cutting – female genital cutting (FGC), intersex genital cutting, male genital cutting (MGC), and even cosmetic forms of FGC – are performed in a belief that they will improve the subject’s life. Genital autonomy is a unified principle that children should be protected from genital cutting that is not medically necessary. Safeguarding genital autonomy encompasses helping societies and individuals to explore wounds common across different forms of genital cutting regarding gender, power, the quest for cultural belonging, and social and sexual control. A desire to prevent alternative sexualities helps explain the origins of MGC’s medicalization starting in the nineteenth century, as well as the roots of the failed attempt to similarly medicalize FGC. The child with ‘ambiguous’ genitalia brings us face to face with the failure of the attempted alignment of sex and gender. Medical ethics, law, and human rights suggest a path forward toward genital autonomy.
The Good Practice Guidelines for the Assessment and Treatment of Adults with Gender Dysphoria is a publication of the Intercollegiate Committee of the Royal College of Psychiatrists. The overall goal of the Good Practice Guidelines is to provide clinical guidance for health professionals to assist transsexual, transgender, and gender nonconforming people with safe and effective pathways to achieving lasting personal comfort with their gendered selves, in order to maximize their overall health, psychological well-being, and self-fulfillment. This assistance may include primary care, gynaecologic and urologic care, reproductive options, voice and communication therapy, mental health services (e.g., assessment, counselling, psychotherapy), and hormonal and surgical treatments. The Good Practice Guidelines are based on the best available science and expert professional consensus. The Good Practice Guidelines articulate standards of care while acknowledging the role of making informed choices and the value of harm reduction approaches. In addition, the Good Practice Guidelines recognizes that treatment for gender dysphoria i.e., discomfort or distress that is caused by a discrepancy between persons gender identity and that persons sex assigned at birth (and the associated gender role and/or primary and secondary sex characteristics) has become more individualized. Some individuals who present for care will have made significant self-directed progress towards gender role changes or other resolutions regarding their gender identity or gender dysphoria. Other individuals will require more intensive services. Health professionals can use the Good Practice Guidelines to help patients consider the full range of health services open to them, in accordance with their clinical needs and goals for gender expression.
The medical term disorders of sex development (DSDs) is used to describe individuals with an atypical composition of chromosomal, gonadal and phenotypic sex, which leads to differences in the development of the urogenital tract and reproductive system. A variety of genetic factors have been identified that affect sex development during gonadal differentiation or in specific disorders associated with altered androgen biosynthesis or action. The diagnosis of DSDs in individuals and the subsequent management of patients and their families requires a targeted and structured approach, involving a multidisciplinary team with effective communication between the disciplines. This approach includes distinct clinical, imaging, laboratory and genetic evaluations of patients with DSDs. Although treatment of patients with DSDs can include endocrine and surgical options, many patients have concerns that arise from past incorrect treatments that were founded on the traditional binary concept of the sexes. To dispel these concerns, it is necessary to create centres of expertise for DSDs that include physicians, surgeons, psychologists and specialists in diagnostic procedures to manage patients and their families. Additionally, the inclusion of trained peer support in the multidisciplinary DSD team seems to be integral to the supportive management of patients with DSDs. Most importantly, dealing with DSDs requires acceptance of the fact that deviation from the traditional definitions of gender is not necessarily pathologic.
There has been a widespread change in nomenclature surrounding intersex since a consortium of doctors issued a consensus document that stated the term intersex was imprecise and outdated. Suggesting Disorders of Sex Development (DSD) as the alternative, the document has been widely adopted by doctors internationally. Although some have celebrated the reform as a quiet revolution, the decision to label intersex individuals as disordered dangerously pathologizes them, labeling them as defective and in need of correction. This article analyzes the effects of the new nomenclature on intersex identities and offers Differences of Sex Development as a corrective.
Title: Review of “Born Together—Reared Apart” by Nancy L. Segal, California State University, Fullerton
Author: Milton Diamond Ph.D.
Published in and copyright by Twin Research and Human Genetics, Volume 15, Issue 06, December 2012, pp 793-795
The Nature-Nurture (N-N) dichotomy has been argued for many years. Is it upbringing and rearing, with all its different experiential manifestations, that determines how an individual will react and behave, or is it something in one’s genes and biological heritage? Actually, it is currently accepted that both nature and nurture together are involved, and entwined, in structuring behavior. The debate now seems more focused on which has the greater influence, and by how much, with reference to specific traits. (The underlying molecular genetic base of human traits is also at the forefront of behavioral genetic research, as is the study of epigenetics.) The arguments on both sides seem to have great persistence among their advocates. The material and stories offered in this book will probably not stop the arguing, but they certainly should go a long way in forcing the adherents of the nurture side of the debate to rethink their arguments, while encouraging those proponents of nature.
Dr Segal obtained her doctorate in psychology at the University of Chicago under Professor Daniel G. Freedman. She then went on to the University of Minnesota to become associated with that university’s MISTRA project under the mentorship of Dr Thomas J. Bouchard, Jr. Bouchard is best known for his research as Director of MISTRA (Minnesota Study of Twins Reared Apart). These twin types are professionally known as MZA for monozygous (genetically identical) twins reared apart and DZA for dizygous (genetically non-identical) twins reared apart. Such twins are in distinction from twins that have been reared together for most of their development to maturity, MZT and DZT. This difference makes MZA and DZA twins unique. When compared with twins reared together, it makes twins reared apart ideal as tools by which the interplay of N-N can be examined. These twins reared apart, when compared with twins reared together, allow for evaluation of the influence of forces such as parental involvement, rearing practices and nutritional and other environmental social factors, and allows comparison with inherent genetic influences.
After obtaining her degree, Dr Segal maintained her association with the MISTRA study for 9 years. She was a postdoctoral fellow with the study for 3 years, and then for 6 years was Assistant Director of the Minnesota Center for Twin and Adoption Research, involved in recruiting and testing twins of all categories. This exposure gave her a special opportunity to be involved, for an extensive period, in the fascinating area of twin studies, and record the history of the MISTRA program. Segal is, herself, a fraternal twin.
This is Segal’s fourth major book about twins. Her three previous books, Entwined Lives: What They Tell Us About Human Behavior, Indivisible by Two: Lives of Extraordinary Twins, and Someone Else’s Twin: The True Stories of Twins Switched at Birth, are in many ways quite different from the current one. Those books gathered strength from the storytelling nature of Segal’s presentations and the interesting lives of the twins. The anecdotes and case presentations about the twins made for interesting reading that most readers could appreciate. In the current book the focus is more on an historic review of the MISTRA investigations. There is extended discussion of the study findings and the trials and tribulations associated with them. The reports of the studies are often accompanied by statistical analysis of the results and the significance of such. In many ways this makes the book of greater interest to professional readers and academics than to a lay audience. In either regard, it is an important book because many of the study’s findings were serious contributions to our bed of knowledge and the book explains why.
Many of the findings from the MISTRA program were new. But, many of the most important findings were those that confirmed previously reported ones considered controversial or on weak ground. In the area of IQ research, for example, the study comparing twins reared apart with those reared together confirmed the strong genetic effect found by other researchers before and countered the objection of many doubters. The former findings of IQ had been considered controversial or biased by even well-established scholars. James Watson, for example, felt environmental and rearing practices most important for developmental capabilities like IQ. And the strong effect of genetics on IQ, accounting for 80% of the variance, as reported by Arthur Jensen, was doubted because he had been accused of racial bias.
As an historic review, Segal recounts both the successes and the problems encountered by the MISTRA program. Many investigators that depended on, or still depend on external grants for their research, will find these accounts revealing and perhaps all too familiar. There were often critics suspicious of the use toward which the results would be applied. Would any results found be discriminatory, as others seemed to have been before? Funding agencies were reluctant to back a study that they thought would not be able to provide a sufficient number of twins to yield significant data. (I myself experienced this when I was attempting to follow up the case of John/Joan; an N of one.) From the book we learn that Bouchard himself was prepared to draw funds from his own pocket to support the research. Aspects of such grant-associated problems make for engrossing reading.
The book is not, however, an easy read or page-turner. It is replete with detail, data, statistics, and historical minutia. It is, nevertheless, an important read for any one seriously interested in genetics or the N-N debate. With detailed recounting of how evidence was gathered, the book reviews how research from MISTRA studies showed nature to significantly outdistance nurture in organizing such medical characteristics as cardiac and dental conditions, allergies, and neurological problems like Tourette syndrome. While many can easily accept such biological findings for biological conditions, MISTRA research also found nature of great influence with characteristics such as personal traits most often thought the product of upbringing and parental influence. MISTRA research found job satisfaction, sexual orientation and religiosity all more than anticipated genetic influence. ‘A twin-family analysis confirmed heritability of about 50% for traditionalism [in intensity of religious belief] as well as showing high heritability for sexual and religious attitudes.’ Mental conditions and sexual orientation too were found to be genetically influenced. Indeed, as Segal relates, MISTRA studies found, regarding adult personality, ‘the rearing home environment had little effect’ and factors such as vocations and occupational interests were also substantially guided by genetic potentials. They quote the findings of Robert Plomin and David Rowe in saying: ‘While not denying the importance of parenting, [we found] that parents were less responsible for their children’s behavior than they thought.’ Details about many of the twins discussed were fascinating to me and provide the more interesting reading in the book. However, these details are unfortunately presented in different sections of the book to illustrate different points, rather than grouped together.
Consider these details of the so-called ‘Jim twins’ and figure the odds that such occurs by chance. Two persons, separated at 4 weeks of age and not meeting until after 39 years of separation, had both married women named Linda first and then Betty. One had a son named James Allen while the other named his son James Alan. Both had dogs named Toy and both smoked Salem cigarettes, both had carpentry shops in their garage and both had math as their favorite subject and spelling as their worst. Statistically the possibility that this all happened by chance would be less than that of winning a major lottery!
Another interesting set of MZA twins was Oskar and Jack. One was raised as a Catholic in a Nazi home in Germany while the other was raised as a Jew in Trinidad. They met briefly in Germany at the age of 21, but only at the age of 47 did they meet for any considerable length of time when they appeared to participate in the MISTRA research program. Jack was raised by his father and his grandmother raised Oskar. When the twins appeared at the Minneapolis International Airport they were both wearing blue shirts with epaulettes and wire-rimmed glasses. They wore similarly shaped moustaches. Testing of their personality by the MMPI, the Minnesota Multiphasic Personality Inventory,
‘revealed personality profiles that matched almost perfectly’. (The MMPI is one of the most frequently used personality tests in mental health used to assist in identifying personality structure and psychopathology.)
A third set of twins I found engaging were Mark and Jerry, the ‘fireman twins’. They were so called because both had spent their available time as volunteer fireman, drank Budweiser beer and supported their stein or beer can by placing a pinky finger underneath. They were also both ardent football fans (although to different teams), both installed electrical equipment, and both considered themselves nonreligious Jews.
The dominant finding from the sum of the MISTRA efforts basically was that identical twin individuals meeting as adults are more behaviorally alike than unrelated individuals raised together. Research also shows that unrelated individuals raised together become less alike in intelligence over time. A consistent result from the MISTRA analyses was that features of the twins’ rearing homes made negligible contributions to their behavioral resemblance. This point was often lost in some of the harsh media treatments of the MISTRA.
Before going further, I should make it clear that nowhere does Segal imply that the MISTRA study uncovered genes for women named Linda being married first and then Betty, genes for blue shirts with epaulettes and wire-rimmed glasses, or preference for spending time as volunteer fireman and how to place a pinky while drinking. She and Bouchard explain it as ‘active-genotype environment correlation’, which holds that innate, genetically biased tendencies work to mold the environment to best manipulate any situation, and it is the similarity in resolution that is intriguing. Bouchard is quoted in this regard: ‘Genes drive behavior and... behavior determines the environment we experience’; and ‘Nature writes the score. Environment is responsible for the playing technique’. I, personally, find this explanation satisfying in melding with my own theory of ‘biased-interaction’ working to organize gender identity. I hold that there exists, in each individual, a genetic-endocrine induced bias toward a male or female gender, that interacts with the environment to structure behavior.
Some last comments: A feature of the book I found very commendable and useful was the excellent set of endnotes conveniently arranged for reference; also of value is a quite usable index. If you are a professional associated with genetics you will find this book of interest and of value. For those engaged in the nature-nurture debate it may be crucial in understanding what traits may be more influenced by nature and which by nurture, and for the layperson it will be of interest for the anecdotes about the twins themselves and how a major study evolved and fared.
--------End---------
Individuals living with an intersex condition have not received much attention in counseling psychology, although a high need for psychosocial care is obvious. Using a mixed-methods multiple case study with qualitative and quantitative data, the authors explore coping and gender experiences in seven 46, XY intersexual persons with deficiencies of androgen biosynthesis. These were assigned female at birth. At puberty, the participants experienced unexpected physical virilization due to 5alpha-reductase-2 (n = 3) and 17beta-hydroxysteroid dehydrogenase-3 deficiency (n = 4). All 7 received medical treatment (e.g., gonadal removal, genital surgery) to stop virilization and maintain the primarily assigned female sex and gender. The cases illustrate high adjustment challenges caused by the condition itself and the medical treatment experienced. None changed to male during adolescence as reported in previous studies. Highly variable patterns of gender identification become visible with subjectivities that do not only represent a binary gender model. Adult gender identity outcome of the participants is characterized by an increased uncertainty of gender identity, high male and low female gender identity. Implications for clinical management, particularly psychological counseling, are drawn. (PsycINFO Database Record (c) 2012 APA, all rights reserved)
Disorders of sex development comprises a spectrum of embryological anomalies resulting in ambiguous genitalia at birth or develops at puberty ie., the appearance of the external genitalia being at variance with normal development for either sex. Sex outcome at birth is the result of a coordinated and sequential series of developmental events controlled by temporally expressed genes and hormones. The birth of an infant with ambiguous genitalia is one of the most difficult challenges faced by physicians. Management is compounded by psychological, social, ethical, and sexual concerns. Genetic issues dominate the pathophysiology of disorders of sex development, and in the long term management would include the skills of counselors trained in psychosexual issues affecting children and adolescents. The management of disorders of sex development is quite complex, and a multidisciplinary team network of appropriate professionals is essential. The decision of sex of rearing and the timing of surgery need careful consideration within a multidisciplinary environment with full informed consent of the family. This review gives an overview of disorders of sex development with emphasis on the more frequently encountered anomalies, the pathophysiology, presentation, and management.
The term "intersex" evokes diverse images, typically of people who are both male and female or neither male nor female. Neither vision is accurate. The millions of people with an intersex condition, or a DSD (difference/disorder of sex development), are men and women whose sex chromosomes, gonads, or sex anatomy do not fit clearly into the male/female binary norm. Until recently, intersex conditions were shrouded in shame and secrecy; many adults were unaware that they had been born with an intersex condition and those who did know were advised to hide the truth. Current medical protocols and societal treatment of people with a DSD are based on false stereotypes about sex, gender, sexual orientation, gender identity, and disability, which create unique challenges to framing effective legal claims and building a strong cohesive movement. In "Intersexuality and the Law: Why Sex Matters," Professor Julie A. Greenberg examines the role that legal institutions can play in protecting the rights of people with an intersex condition. She also explores the relationship between the intersex movement and other social justice movements that have effectively used legal strategies to challenge similar discriminatory practices. In addition, she discusses the feasibility of forming effective alliances and developing mutually beneficial legal arguments with feminists, LGBT organizations, and disability rights advocates to eradicate the discrimination suffered by these marginalized groups.
In 2005 medical and lay experts convened (the Chicago Consensus), and reviewed and updated nomenclature and treatment recommendations in individuals with congenitally atypical gonadal, chromosomal or anatomical gender. This review summarizes, analyzes and considers the implications of these recommendations in pediatric urology practice.
Publications identified in a PubMed® search of 2000 to 2010 as well as relevant prior reports of new concepts and trends in the diagnosis of and treatment for intersex/ambiguous genitalia/disorders of sex differentiation, and responses to the Chicago Consensus were reviewed.
In response to concerns regarding outdated, confusing and/or controversial terms, such as "intersex," "hermaphroditism" and "sex reversal," the consensus statement recommended a new taxonomy based on the umbrella term, "disorders of sex differentiation." Additional categorization based on sex chromosome complement was recommended but not clearly defined and variously interpreted. Routine use of multidisciplinary diagnostic and expert surgical teams, continuing psychosocial and psychosexual care, and full disclosure of alternatives relating to surgery type and timing were recommended. Early gender assignment was advocated but evidence-based guidance to support some aspects of care of affected individuals was insufficient. Pediatric urologists should remain abreast of new data refining the diagnoses and outcomes of disorders of sex differentiation, and ensure that their patients have access to multidisciplinary resources.
Major changes in classification and expectations in the care of individuals with disorders of sex differentiation have occurred in recent years. Increasing focus on determining precise etiology and defining objective outcomes will help more clearly determine appropriate management and prognosis for this heterogeneous group of disorders.
Recent consensus is that individuals with atypical male or female phenotype are to be considered to have a "disorder of sexual development." The goal is to eliminate previous terminology that included the terms intersex, hermaphrodite, or pseudohermaphrodite. However, the teaching of embryology, and particularly teaching about the development of the reproductive system, still has not made the change to the new terminology. If those who teach embryology to health-care professionals remain unaware of the controversies associated with the old terminology and continue to use it, they will perpetuate a nomenclature that can be destructive. Any terminology must be used carefully to avoid dehumanizing the individual to a disease or a medical state. We should be able to state clearly the variations in morphology that exist, attend to the immediate health of the individual, and avoid any attempt to stigmatize gender-atypical individuals.
Infants rarely present with truly ambiguous genitalia and such children should be evaluated by experts who work within a multidisciplinary team that is dedicated for evaluation and management of children and adults with suspected and confirmed disorders of sex development. The paediatric endocrinologist who is a vital and often the central member of this clinical team not only needs to lead the clinical evaluation of the infant systematically but also needs to be sensitive to the needs of the infant, the parents and the rest of the team. A thorough knowledge of the underlying pathophysiology and the strengths and weaknesses of the investigative tools that are available for reaching a diagnosis is crucial.
This article summarizes the current state of research on Sexual Quality of Life (SexQoL) of adults with 46,XY Disorders of Sex Development (DSD)/Intersexuality. An extensive literature search yield 21 studies published between 1974-2007, examining sexual aspects in individuals with 46,XY DSD. However, many of them lack methodological quality. The results are inconsistent but overall indicate that SexQoL of individuals with 46,XY DSD is impaired, particular with regard to sexual dysfunctions and sexual satisfaction. Future studies on SexQoL should focus more on qualitative aspects of sexuality and investigate medical and psychosocial risk factors such as sex-corrective surgery and parental bonding.
Introduction. There has recently been a growing acceptance that it is not only heterosexual functioning of surgically adjusted genitalia which should be considered when measuring the treatment outcome of persons with disorders of sex development (DSD) but also their overall sexual quality of life (SexQoL).
Aim. A comprehensive cross-sectional investigation of SexQoL of persons with 46,XY DSD.
Methods. Forty-seven persons with 46,XY DSD (age 17–60 years) were examined by means of a questionnaire on various aspects of SexQoL. Scores were compared to a nonclinical convenience sample consisting of 145 women. Data were analyzed separately for diagnostic subgroups. Furthermore, persons whose external genitalia had been surgically corrected were compared with persons whose genitalia had been left unaltered.
Main Outcome Measures. The Multidimensional Scale of Sexuality, the German Questionnaire on Feelings of Inadequacy in Social and Sexual Situations (FUSS), items on sexual dysfunctions according to DSM-IV-TR and self-constructed measures on sexual-activity history (e.g., previous sexual experience), sexual anxieties, and satisfaction with overall sex life and sexual function comprised the standardized assessment instruments.
Results. Compared with the nonclinical group, persons with 46,XY DSD had more often no partner (P = 0.056), felt more insecure in social (MdnDSD = 17.0, Mdncomparison = 12.0, P = 0.001) and sexual situations (MdnDSD = 17.0, Mdncomparison = 11.0, P = 0.006), had more sexual problems (MdnDSD = 4.0, Mdncomparison = 3.0, P = 0.001), and were less satisfied with overall sex life (MdnDSD = 3.0, Mdncomparison = 4.0, P = 0.000) and sexual function (MdnDSD = 4.0, Mdncomparison = 4.0, P = 0.000). Results were inconsistent with regard to sexual-activity history (e.g., previous sexual experience). Participants who underwent genital surgery showed less dyspareunia (P = 0.027) but more fear of injuries during intercourse (P = 0.019) than those whose genitals were left unaltered.
Conclusions. SexQoL of persons with 46,XY DSD may be impaired. Differences in SexQoL between diagnostic subgroups, effect of corrective genital surgery, and the influence of gender assignment will have to be further investigated in future studies. Schönbucher V, Schweizer K, Rustige L, Schützmann K, Brunner F, and Richter-Appelt H. Sexual quality of life of individuals with 46,XY disorders of sex development. J Sex Med 2012;9:3154–3170.
We investigated the long-term physical, hormonal, and sexual outcomes of males with disorders of sex development (DSD) and discussed the necessity of long-term follow-up for these patients after surgery.
Twelve DSD patients (average age, 21.0 +/- 3.6 years old) who had been designated as male in childhood (3 ovotesticular DSD, four 45,XO/46,XY mixed gonadal dysgenesis, four 46,XX testicular DSD, and one 46,XY DSD; androgen insensitivity syndrome) were enrolled. For these patients, height, penile length, and testicular volume were evaluated in adulthood. Serum levels of luteinizing hormone, follicle-stimulating hormone, and testosterone were also measured during follow-up. In addition, sexual function and romantic relationships were evaluated.
Development of the penis and testes was poor. According to the hormonal study, these patients were diagnosed with hypergonadotropic hypogonadism or normogonadism; 90% patients had experienced penile erection and masturbation at the time of participation, and 70% and 40% patients had experienced ejaculation and sexual intercourse with female partners, respectively. No patients preferred to avoid sexual contact with women.
Although DSD males had an undeveloped penis and testis and had hypergonadotropic hypogonadism or normogonadism, most had male sexual potential and male sex identity as long as testicular tissues were preserved.
Following the publication of our article about a classic case of sex reassignment,1 the media attention was rapid and widespread,2-4 as was the reaction of many clinicians. Some wanted to comment or ask questions, but many contacted us directly or indirectly, asking for specific guidelines on how to manage cases of traumatized or ambiguous genitalia.5
Below we offer our suggestions. We first, however, add this caveat: these recommendations are based on our experiences, the input of some trusted colleagues, the comments of intersexed persons of various origins, and the best interpretation of our reading of the literature. Some of these suggestions are contrary to today's common management procedures. We believe, however, that many of those procedures should be modified. These guidelines are not offered lightly. We anticipate that time and experience will dictate that some aspects be changed and such revisions will improve the next set of
During the past decade, the dominant medical protocol for the treatment of intersex infants has come under heavy attack. One of the current debates centers on whether parents should be allowed to consent to nonmedically necessary genital surgery on their intersex infants. Some activists insist that a moratorium on all such surgeries should be imposed until these children reach the age of consent and can make their own decisions. Others believe that parents should be allowed to consent to these surgeries on behalf of their children, but maintain that informed consent procedures must be enhanced. Finally, some argue that the autonomy rights of the intersex infant require that courts review the parental consent to ensure that ethical standards are maintained. Thus far, the Constitutional Court of Colombia is the only high court to have rendered a decision on this issue. This essay discusses the Colombia decision and analyzes recent court decisions from Europe, Australia and the United States involving other sexual minorities to determine how these courts may resolve this issue if they are brought into the controversy. It concludes that courts may not be the ideal forum to resolve these issues because judges may render a decision based upon their own prejudices or stereotypes.
Following the publication of our article about a classic case of sex reassignment, the media attention was rapid and widespread, as was the reaction of many clinicians. Some wanted to comment or ask questions, but many contacted us directly or indirectly, asking for specific guidelines on how to manage cases of traumatized or ambiguous genitalia.
The present standard of practice in the management of ambiguous and traumatized genitalia was evaluated.
Published cases of intersexuality and protocols for the management of traumatized genitalia were reviewed with consideration of the input of intersexual individuals. Independent research on different types of intersexuality is also presented.
The present standard pediatric recommendations and precepts for the management of ambiguous or traumatized genitalia are wanting. Followup studies on which to base treatment decisions are needed. Evidence based principles of medical management are proposed.
A moratorium on sex reassignment cosmetic surgery is recommended. Also recommended are that followup studies should be instituted on past cases, and honesty and counseling should be the core of initial and subsequent treatment.
This article focuses on the thorny and evolving legal issues and implications of health care decision-making for children and adolescents in matters of gender, sexual identity, sexual conduct, and reproduction. In treating minors, health care professionals increasingly experience competing duties and responsibilities to their patient, the parents or guardians, and to the state. This article gives health care professionals a foundation for understanding the legal concepts of adolescent health care decision-making and provides an approach for balancing the potential competing interests of these stakeholders while complying with professional standards,the law, and their own ethical and moral convictions.
Genetic males who have cloacal exstrophy, a rare, severe pelvic field defect that leads to aphallia, traditionally have been socially, legally, and surgically sex-assigned female at birth and reared female, despite a male karyotype and a typical male prenatal hormonal milieu. Psychosexual development in such children previously has been unknown. Studies of 29 children revealed that despite the absence of the typical postnatal and pubertal androgen surges and the presence of female genitalia, all female-assigned subjects displayed a marked male-typical shift in psychosocial and psychosexual development. Nearly half of them have declared themselves male. Psychosexual development, including gender identity, in genetic and hormonal male neonates seems to be influenced heavily by prenatal androgen exposure. The clinical practice of surgical sex assignment at birth requires re-evaluation.
Sex assignment to newborns with ambiguous genitalia is controversial. Our objective was to determine the attitudes and practices of pediatric urologists on this subject.
A survey of fellows in the Urology Section of the American Academy of Pediatrics was completed by 185/228 (81%). The survey referred to two cases, masculinized 46XX congenital adrenal hyperplasia (CAH) and 46XY cloacal exstrophy. Questions referred to sex assignment, timing of surgery, decision making process, and respondent demographics.
For masculinized 46XX CAH, virtually all respondents favored female sex assignment. The most important factor was potential fertility. For 46XY cloacal exstrophy, two thirds favored the male sex. The most important factor was potential androgen brain imprinting, whereas in selecting female assignment, it was difficulty creating a functional phallus. Respondent characteristics associated with assigning female sex were longer duration in practice (>15 years) and affiliation with training programs. Most respondents advocated a team approach to decision making with parental involvement and early surgery (<18 months).
Pediatric urologists are in strong consensus about sex assignment for newborns with ambiguous genitalia from CAH, a team approach with parental involvement, and early reconstruction. Yet, there is striking variability in attitudes toward sex assignment for newborns with 46XY cloacal exstrophy, which should be incorporated into the decision-making process with parents.
Until now, there are only few studies that focus on the specific treatment experiences of people with intersexuality and evaluate their outcome in terms of psychological, physical, and social well-being. Further, the presentation of the patients' perspective is often neglected in research.
Overview of preliminary results of the Hamburg-Intersex-Study on gender assignment and medical history of adult subjects with intersexuality (disorders of sex development), as well as the patients retrospectively stated thoughts and feelings regarding these interventions.
Medical records from participants of the study were analyzed. The subjective attitudes and evaluation of the treatment measures were assessed with a self-constructed questionnaire. Data on psychological well-being were measured with the Brief Symptom Inventory.
In total, 37 adult participants (mean age 30.6 years) with following diagnosis were included: congenital adrenal hyperplasia, complete and partial androgen insensitivity syndrome, gonadal dysgenesis and disturbances of the androgen biosynthesis, such as 5 alpha reductase deficiency and 17 beta hydroxysteroid deficiency.
The majority of participants had (often multiple) genital surgery to correct the appearance of their genitalia and/or to enable sexual functioning. The diagnostic groups differ not only in amount and invasiveness of experienced surgical and medical treatment but also in the subjective and retrospective evaluation of the treatment measures and in the amount of reported psychological distress.
Many subjects stated to have experienced the medical procedures and care very negatively, whereby the aspects of secrecy, untruthfulness, and concealment were stated as most difficult and burdening.