[Show abstract][Hide abstract] ABSTRACT: In most Western countries, clinical management of disorders of sex development (DSD), including ambiguous genitalia, begins at diagnosis soon after birth. For many Indonesian patients born with ambiguous genitalia, limited medical treatment is available. Consequently, affected individuals are raised with ambiguous genitalia and atypical secondary sex characteristics. We investigated gender identity and gender role behavior in 118 Indonesian subjects (77 males, 41 females) with different types of DSD in comparison with 118 healthy controls matched for gender, age, and residential setting (rural, suburban, or urban). In Study 1, we report on methodological aspects of the investigation, including scale adaptation, pilot testing, and determining reliability and validity of measures. In Study 2, we report on gender development in 60 children (42 boys, 18 girls), 24 adolescents (15 boys, 9 girls), and 34 adults (19 men, 15 women) with DSD. The majority of participants with DSD never received any medical or surgical treatment prior to this study. We observed a gender change in all age groups, with the greatest incidence in adults. Among patients who changed, most changed from female to male, possessed a 46,XY karyotype, and had experienced significant masculinization during life. Gender identity confusion and cross-gender behavior was more frequently observed in children with DSD raised as girls compared to boys. Puberty and associated masculinization were related to gender problems in individuals with 46,XY DSD raised female. An integrated clinical and psychological follow-up on gender outcome is necessary prior to puberty and adulthood.
Archives of Sexual Behavior 03/2015; 44(5). DOI:10.1007/s10508-015-0493-5 · 3.53 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: Objective:
The aim of this study is to investigate emotional and behavioral problems among Indonesian patients with disorders of sex development (DSD) who recently came under clinical management. As diagnostic procedures and treatment had been delayed, patients progressively developed ambiguous bodies, difficult to conceal from outsiders.
We compared 118 Indonesian patients with DSD aged 6-41 years (60 children, 24 adolescents, 34 adults) and 118 healthy control subjects matched for age, gender, and residential settings. We used the Child Behavioral Checklist (CBCL), Youth Self-Report (YSR), and Adult Self-Report (ASR) to examine differences between patient and control groups as well as differences within patients groups.
On the CBCL, parents of young children with DSD reported significantly more emotional and behavioral problems than parents of matched control. Parents of daughters with CAH reported that their daughters withdrew themselves from social interactions. On the ASR, adults with DSD reported significantly more internalizing problems than controls, particularly anxiety and depression. No other differences in emotional functioning were found across different diagnostic groups.
Indonesian patients with DSD who were untreated for most of their lives suffered more emotional and behavioral problems than matched controls. Differences and similarities between our findings and observations in patients from Western countries will be discussed.
Journal of Psychosomatic Research 12/2014; 79(1). DOI:10.1016/j.jpsychores.2014.12.007 · 2.74 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: In Indonesia, disorders of sex development (DSDs) are not well recognized and medical care for affected individuals is scarce. Consequently, many patients live with ambiguous genitalia and appearance. We compared reported outcomes on body image, sexual functioning, and sexual orientation of 39 adults with DSDs (aged 18 to 41) and 39 healthy controls matched for gender, age, and residential setting (urban, suburban, rural). Differences in gender and treatment status (treated or untreated) were also explored. On body image, adults with DSDs reported dissatisfaction with sex-related body parts. Compared to the matched controls, women with DSDs reported greater sexual distress, and men with DSDs reported lower erectile and ejaculation frequencies, and more dissatisfaction with sexual life but not with sexual desire and activities. Men with DSDs who had undergone genital surgery reported higher erectile and ejaculation frequencies than untreated men. More women than men in the DSDs group reported a nonexclusive heterosexual orientation. DSDs and infertility had a great impact on sexuality. Fear of ostracism complicated DSD acceptance. Findings were compared to those of Western studies. Based on these results, education about DSDs and their psychosexual consequences may help reduce the sexual distress and problems in adults with DSDs and improve quality of life.
The Journal of Sex Research 10/2013; 52(1). DOI:10.1080/00224499.2013.816260 · 2.70 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: Virilization due to hyperandrogenism in women causes male signs and symptoms such as swelling of the clitoris, deepening of the voice, facial hair and increase in body hair. Virilization is caused by less than 0.5% of all ovarian tumors. Here we report a case of virilizing Leydig cell tumor of the left ovary in a 36 year old woman. Misinterpretation of symptoms, conflicting medical information and advice from previous doctors had confused the patient. We performed a diagnostic evaluation including clinical, hormonal parameters, imaging, anatomical pathology examinations, and psychological assessment. Blood analysis showed a high testosterone level. The presence of an ovarian tumor was confirmed by laparoscopy. Since the patient refused ovariectomy, a biopsy of the left ovary was performed. Pathology showed a Leydig cell tumor without histological signs of malignancy. In spite of extensive explanation and psychological counseling, cultural barriers prevented appropriate treatment. An ovarian Leydig cell tumor should always be considered for a woman in the reproductive age with symptoms of virilization. The diagnosis is suspected on the basis of an ovarian mass on examination and further investigation and should be proven by biopsy.
[Show abstract][Hide abstract] ABSTRACT: Purpose:
Indications that the prenatal action of testosterone in the brain is an important determinant of gender development and improved reconstructive techniques have caused a shift in male gender assignments in patients with 46XY disorders of sex development. We report long-term outcome data on psychosexual development and sexual function of these individuals in a cross-sectional study.
Materials and methods:
Physical status of 14 men with a mean age of 25 years with disorders of sex development was assessed by structured interview and physical examination. Psychosexual outcome was evaluated by questionnaires and compared to a control group of 46 healthy, age matched men.
A total of 13 men underwent 1 to 6 (mean 2) genital surgeries. Mean age at first surgery was 2.7 years. Mean penile length was 6.6 cm. All men reported erections and were able to experience orgasms. Ejaculatory dysfunction was reported by 7 men. Mean penile length was 7.9 cm in patients who were able to achieve penetrative intercourse and 4.9 cm in those who were not. Meatus was glanular in 5 patients, coronal in 7 and at the distal shaft in 1. Compared to controls, men with disorders of sex development were less satisfied with the appearance of the penis and scrotum but not with total body image. These patients reported decreased sexual desire and activities.
Outcome in this group of men with disorders of sex development was poor regarding penile length, ejaculation, satisfaction with external genitalia and frequency of sexual activity. Other aspects, such as overall body image and psychosexual functioning, showed no difference from controls.
The Journal of urology 03/2013; 190(3). DOI:10.1016/j.juro.2013.03.029 · 4.47 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: Introduction. Women with the classical form of congenital adrenal hyperplasia (CAH) are born with different degrees of virilization of the external genitalia. Feminizing surgery is often performed in childhood to change the appearance of the genitalia and to enable penile–vaginal intercourse later in life. There are suggestions that this affects sexual functioning.
Aims. The aim is to study the anatomical, surgical, cosmetic, and psychosexual outcomes in women with CAH.
Methods. Forty women with CAH, aged over 15 years, from two referral centers for management of Disorders of Sex Development in the Netherlands were included. Physical and functional status were assessed by a gynecological interview and examination. Sexual functioning was assessed with the Female Sexual Function Index and Female Sexual Distress Scale—Revised scales and compared with a reference group.
Mean Outcome Measures. Surgery performed, anatomy, cosmetic score, sexual function and distress.
Results. Thirty-six of the 40 women had undergone feminizing surgery; 25 women (69%) underwent more than one operation. Resurgery was performed in seven of the 13 (54%) women who had had a single-stage procedure. Anatomical assessment showed reasonable outcomes. Multiple linear regression showed that only level of confluence had a significant effect on cosmetic outcome, the impact depending on the number of surgeries performed. Cosmetic evaluations did not differ between the women and the gynecologists. Only 20 women had experience of intercourse. Eight women reported dyspareunia; seven women reported urinary incontinence. The women's perceived sexual functioning was less satisfactory than in the reference group, and they reported more sexual distress.
Conclusion. The level of confluence was the major determinant for cosmetic outcome; the impact depended on the number of surgeries performed. Fifty-four percent of the women required resurgery after a single-stage procedure in childhood. Anatomical assessment showed reasonable outcomes. The women evaluated their sexual functioning and functional outcome less favorable than the reference group, and they experienced less often sexual intercourse. van der Zwan YG, Janssen EHCC, Callens N, Wolffenbuttel KP, Cohen-Kettenis PT, van den Berg M, Drop SLS, Dessens AB, Beerendonk C. Severity of virilization is associated with cosmetic appearance and sexual function in women with congenital adrenal hyperplasia: A cross-sectional study. J Sex Med 2013;10:866–875.
Journal of Sexual Medicine 12/2012; 10(3). DOI:10.1111/jsm.12028 · 3.15 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: In patients with disorders of sex development requiring creation of a neovagina, a number of techniques are available, including surgical vaginoplasty and self-dilation therapy. Vaginal dilation therapy has been recommended as a first-line treatment because of its less invasive character and high success rate. However, no data exist on long-term psychosexual functioning after vaginal dilation as compared with that after vaginal surgery.
The aim of this study is to compare the psychosexual and anatomical outcome of women with congenital vaginal hypoplasia followed in the same clinical setting after vaginoplasty with that after vaginal dilation.
The sexual quality of life of 35 women at least 2 years after vaginoplasty (N = 15), vaginal dilation therapy (N = 8), or coital dilation/no treatment (N = 12) was investigated and compared with the Dutch test validation population (as control).
Psychosexual functioning was assessed with the female sexual Function index, the female sexual distress scale-revised, and a semi-structured interview. A gynecological examination was performed to determine the anatomical outcome after both vaginal treatment regimens.
After either treatment, 26% of these women had a shortened vaginal length of less than 6.6 cm, i.e., more than two standard deviations below the published mean value (9.6 ± 1.5 cm). Irrespective of the treatment, 47% of the patients had (a) sexual dysfunction(s) and experienced sexual distress. However, after vaginoplasty, patients reported significantly more problems with lubrication (P = 0.025) than after self-dilation therapy.
Both psychological and physical factors are predisposing for sexual difficulties. To optimize psychosexual comfort, the clinical management of women with vaginal hypoplasia needs to be multidisciplinary and individually tailored. With high success rates reported, vaginal dilation should remain the cornerstone of treatment.
Journal of Sexual Medicine 04/2012; 9(7):1842-51. DOI:10.1111/j.1743-6109.2012.02747.x · 3.15 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: Clinical practice developed to promote psychosexual well-being in DSD is under scrutiny. Although techniques for genital surgery have much improved lately, long-term studies on psychosexual functioning and cosmetic outcome on which to base treatment and counseling are scarce. We studied 91 women with a DSD. Feminizing surgery was performed in 64% of the women; in 60% of them, resurgery in puberty was needed after a single-stage procedure. Both patients and gynecologists were satisfied with the cosmetic appearance of the genitalia. However, forty percent of these females experienced sexuality-related distress and 66% was at risk for developing a sexual dysfunction, whether they had surgery or not. Recognizing the difficulty of accurate assessment, our data indicate that feminizing surgery does not seem to improve nor hamper psychosexual outcome, especially in patients with severe virilization.
[Show abstract][Hide abstract] ABSTRACT: Purpose
Although Frank already described vaginal dilation therapy for treatment of a short vagina in 1938 patient selection criteria, treatment protocols and outcome parameters are still poorly defined. Since 2000 vaginal dilation is our first-line treatment in 46 XY-DSD with female gender. We present data of 15 consecutive patients.
Material and Methods
In 15 adolescents (mean age 16 years) vaginal length was measured under anesthesia and the compliance of the vaginal vault was assessed. Diagnosis was Androgen Insensitivity Syndrome in 9 (group A) and other cause, like T-synthesis disorder, in 6 (group B). In 5 patients from group A the vagina was considered sufficient. Four/9 from group A and all 6 from group B were considered candidates for selfdilation therapy. After psychological counseling and instruction patients were advised to dilate the vagina daily with a Hegar sound during 3-5 minutes.
Mean vaginal length in group A was 5 (range 3-10) cm and in group B 3 (range 2-5) cm. Mean vaginal length in the 5/15 who did not require therapy was 7 (range 5-10) cm. Mean vaginal length in the therapy group was 3 (range 2-5) cm. Three/10 completed dilation therapy after 12-24 months with an average increase in vaginal length of 5,7 cm; 1/10 discontinued selfdilation after successful coïtus. Three/10 are not yet ready for treatment; 3/10 are lost to follow-up.
Although follow-up is short and information on sexual function is lacking in most patients to allow definitive conclusions we consider vaginal self-dilation therapy as treatment of first choice in 46 XY-DSD patients with a short vagina. Patient motivation and a delicate approach in a multidisciplinary setting are keystones to a successful result of dilation treatment.
[Show abstract][Hide abstract] ABSTRACT: Bij de meeste patiënten met een stoornis in de geslachtsdifferentiatie (DSD) ontwikkelen genderrolgedrag en genderidentiteit
zich conform de toegewezen gender bij geboorte. Toch komen genderidentiteitsproblemen relatief vaak voor. Onderzoek geeft
bovendien aan dat bij sommige vormen van DSD het risico van genderidentiteitsproblemen groter is dan bij andere vormen. In
dit artikel wordt een overzicht gegeven van genderrolgedrag en genderidentiteit bij patiënten met DSD en wordt besproken hoe
deze in de psychologische begeleiding van ouders en kinderen kunnen worden aangepakt.
In most patients with disorders of sex development (DSD) gender role behaviour and gender identity develop in accordance with
the assigned gender. Yet, gender identity problems are relatively frequent. Research indicates that the risk of developing
gender identity problems varies between conditions. In this article a review is given of gender role behaviour and gender
identity in patients with DSD and is discussed how these problems may be addressed in the psychological counselling of parents
Tijdschrift voor kindergeneeskunde 06/2008; 76(3):137-144. DOI:10.1007/BF03078193
[Show abstract][Hide abstract] ABSTRACT: In most patients with disorders of sex development (DSD) gender role behaviour and gender identity develop in accordance with the assigned gender. Yet, gender identity problems are relatively frequent. Research indicates that the risk of developing gender identity problems varies between conditions. In this article a review is given of gender role behaviour and gender identity in patients with DSD and is discussed how these problems may be addressed in the psychological counselling of parents and children.
Tijdschrift voor kindergeneeskunde 06/2008; 76(3):137-144.
[Show abstract][Hide abstract] ABSTRACT: Een stoornis van de geslachtelijke ontwikkeling met onduidelijk geslacht na de geboorte is een ingrijpende situatie en eist
multidisciplinaire behandeling door een gespecialiseerd team. Aan de hand van de karyotypering kan een eerste onderscheid
gemaakt worden tussen virilisatie van een genotypisch meisje en ondervirilisatie van een genotypische jongen. Belangrijk in
het diagnostische traject is de hormonale evaluatie op het juiste tijdstip. Echografisch onderzoek van de genitalia interna
helpt bij verdere evaluatie van de genitalia interna en de positie van de gonaden. Geslachtstoewijzing wordt uitgesteld totdat
een definitieve diagnose is gesteld. Naast snelle diagnostiek naar de onderliggende oorzaak is psychologische begeleiding
van de ouders een belangrijk doel.
A disorder in the sexual development with ambiguous genitalia in the neonatal period is a stressful situation for parents
and requires early diagnostic procedures by a multidisciplinary team. The first step in the evaluation of a newborn child
with ambiguous genitalia is karyotyping which gives a first difference between virilised 46,XX girls and 46,XY undervirilised
males. Ultrasonography of the internal genitalia gives additional information about the presence and location of the gonads
as well as the presence of Müllerian structures. It is important to perform hormonal evaluation at the right time. Gender
assignment has to be made only after the diagnostic path is completed. Beside laboratory and radiological evaluation psychological
support of the parents by experienced psychologists is important.
Tijdschrift voor kindergeneeskunde 06/2008; 76(3):105-111. DOI:10.1007/BF03078188
[Show abstract][Hide abstract] ABSTRACT: This article reviews the literature on studies and case reports on gender identity and gender identity problems, gender dysphoria, and gender change in chromosomal females with congenital adrenal hyperplasia, raised male or female. The large majority (94.8%) of the patients raised female (N= 250) later developed a gender identity as girls and women and did not feel gender dysphoric. But 13 (5.2%) patients had serious problems with their gender identity. This percentage is higher than the prevalence of female-to-male transsexuals in the general population of chromosomal females. Among patients raised male, serious gender identity problems were reported in 4 (12.1%) out of 33 patients. From these observations, we conclude that the assignment to the female gender as a general policy for 46,XX patients with CAH appears justified, even in severely masculinized 46,XX newborns with CAH (Prader stage IV or V).
Archives of Sexual Behavior 09/2005; 34(4):389-97. DOI:10.1007/s10508-005-4338-5 · 3.53 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: De genderontwikkeling is een langdurig proces waarin een kind zich stapsgewijs kennis over gender eigen maakt en zich in toenemende
mate gaat gedragen en beleven als iemand van de eigen biologische sekse. Kinderen kunnen al op zeer jonge leeftijd een onderscheid
maken tussen bepaalde kenmerken van mannen en vrouwen. Afwijkend gendergedrag komt bij jonge kinderen betrekkelijk veel voor
en het is meestal geen reden tot zorgen. Bij kinderen van wie verwacht mag worden dat zij zich voldoende kennis over gendergedrag
hebben eigen gemaakt en bij wie het cross-gendergedrag al jarenlang bestaat, is er mogelijk wel sprake van een genderidentiteitsstoornis.
Het is nog onbekend welke kinderen zich later zullen ontwikkelen tot transseksuele volwassenen. Stoornissen in de genderontwikkeling
van het kind kunnen problemen geven op meerdere gebieden. Voor deze kinderen en hun ouders is een psychotherapie of een andere
vorm van psychologische behandeling aangewezen. Kinderen (en ouders) kunnen zo leren om hun eigen gedrag (of het gedrag van
hun kind) te begrijpen. Ook kan worden gewerkt aan een adequate afstemming van hun wensen en gedrag op hun sociale omgeving,
zodat het (sociaal) functioneren zo min mogelijk belemmerd wordt. Het voorkómen van secundaire psychopathologie is dan ook
zeker een doel van zo‘n behandeling.
[Show abstract][Hide abstract] ABSTRACT: Animal studies demonstrated that early exposure to phenobarbital decreases reproductive function. This study investigates whether prenatal exposure to these anticonvulsants affects human genital tract development.
Genital anomalies at birth were studied retrospectively in 90 phenobarbital-exposed, 108 phenobarbital plus phenytoin-exposed, and 198 matched control infants. Of this group, 72 drug-exposed males, 75 drug-exposed females, and 147 matched control subjects participated in a follow-up and were interviewed at age 19-35. Differences between groups were tested by chi-square and t-tests.
A total of 15% of the phenobarbital-exposed boys versus 2.8% control boys had undescended testes at birth. More anticonvulsant-exposed (24%) than control males (11%) had received medical treatment for genital anomalies. Anticonvulsant-exposed females more often had irregularities in menstrual cycles (31% vs. 17%) and bleeding (15% vs. 3%) and reported more problems during pregnancy.
Prenatal exposure to anticonvulsants seems to induce minor genital anomalies and may affect reproductive function.
[Show abstract][Hide abstract] ABSTRACT: To study late side effects of antenatal corticosteroid treatment on health and sexual development in subjects 20 to 22 years old.
A follow-up study among young adults whose mothers had, because of a threatening delivery, participated in a randomized, double-blind, placebo- controlled trial of betamethasone to prevent neonatal respiratory distress syndrome. Measurements were taken on general health, growth, development in puberty, reproductivity, genital or gynecological complaints, gender development, sexual orientation, sex-specific cognitive functioning, and psychoneuroticism. In addition, some measurements were performed on family diseases, socioeconomic status, and education.
No differences were found between the corticosteroid-treated and placebo groups as to medical or psychological variables. In general, the subjects were healthy and had normal intellectual capacities. Groups did not differ on gender development, sexual orientation, sex-specific cognitive functioning, and psychoneuroticism. Systolic blood pressure was significantly lower in the corticosteroid group, but the groups did not differ as to diastolic blood pressure.
Our 20-year follow-up study indicates that 1 course of antenatally administered corticosteroid to prevent respiratory distress syndrome does not have adverse effects up to adulthood.
[Show abstract][Hide abstract] ABSTRACT: Small head size has been observed in prenatally anticonvulsant-exposed neonates. In infancy, cognitive impairments were revealed. It is presently unknown whether these impairments are permanent or disappear after puberty. We studied the link between the prenatal influence of anticonvulsants on brain development and cognitive functioning in adulthood: a retrospective study on head size and a follow-up assessing cognitive capacities among adults who had been included in the retrospective study. The retrospective study comprised 172 exposed and 168 control neonates, matched with respect to age, sex and their mothers' age. Prenatally phenobarbital + phenytoin-exposed neonates had a significantly smaller occipitofrontal circumference (OFC) than prenatally phenobarbital-monotherapy-exposed and control neonates (mean difference of 0.7 cm). In the follow-up, no difference in cognitive functioning was found between the exposed and the control groups. Most of the prenatally anticonvulsant-exposed subjects had normal intellectual capacity. However, 12% of the exposed subjects versus 1% of the controls had persistent learning problems. In addition, more of the exposed subjects were mentally retarded. There was no clear relationship between learning problems and small OFC, maternal epilepsy or unfavourable family climate. CONCLUSIONS: We conclude that the combination of phenobarbital + phenytoin affects the fetal OFC. The smaller OFC does not seem to be related to cognitive functioning in adulthood, but learning problems and mental retardation proved to be more prevalent among exposed subjects. Phenobarbital and phenytoin may therefore affect cognitive capacity but only in infants who are susceptible to this particular influence of the drugs.