Complete androgen insensitivity syndrome: long-term medical, surgical, and psychosexual outcome.

Department of Pediatrics, The Johns Hopkins University School of Medicine, Baltimore, Maryland 21287, USA.
Journal of Clinical Endocrinology &amp Metabolism (Impact Factor: 6.43). 09/2000; 85(8):2664-9. DOI: 10.1210/jc.85.8.2664
Source: PubMed

ABSTRACT Controversy concerning the most appropriate treatment guidelines for intersex children currently exists. This is due to a lack of long-term information regarding medical, surgical, and psychosexual outcome in affected adults. We have assessed by questionnaire and medical examination the physical and psychosexual status of 14 women with documented complete androgen insensitivity syndrome (CAIS). We have also determined participant knowledge of CAIS as well as opinion of medical and surgical treatment. As a whole, secondary sexual development of these women was satisfactory, as judged by both participants and physicians. In general, most women were satisfied with their psychosexual development and sexual function. Factors reported to contribute to dissatisfaction were sexual abuse in one case and marked obesity in another. All of the women who participated were satisfied with having been raised as females, and none desired a gender reassignment. Although not perfect, the medical, surgical, and psychosexual outcomes for women with CAIS were satisfactory; however, specific ways for improving long-term treatment of this population were identified.

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    ABSTRACT: Disorders of sexual development (DSD) are congenital anomalies due to atypical development of chromosomes, gonads and anatomy. Complete androgen insensitivity syndrome (CAIS), also known as testicular feminization (TF) is a rare DSD disease. The majority of CAIS patients apply to hospital with the complaint of primary amenorrhea or infertility. Given that CAIS patients are all phenotypically female while having 46, XY karyotypes, CAIS diagnosis should be disclosed in an age-appropriate manner preferably by a mental health professional. Cases are reported here for three 46XY siblings consistent with CAIS.
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    ABSTRACT: Introduction Right iliac fossa (RIF) pain is one of the most common presenting complaints faced by general surgeons in the emergency department. Correct diagnosis and appropriate surgical intervention can often pose a challenge. Presentation of case A 12-year-old girl presented to the emergency department with a four day history of initially central acute abdominal pain, now localised in the RIF. During laparoscopy, the following findings were made: Macroscopically dilated appendix, right and left gonads at the internal opening of the inguinal canal, empty pelvis with a rudimentary uterus on the right side. No evidence of fallopian tubes or connection of uterus to the vagina and broad based, non-inflamed Meckel's diverticulum. An incidental diagnosis of complete androgen insensitivity syndrome was made. Discussion Androgen insensitivity syndrome (AIS) is a disorder of hormone resistance characterised by a female phenotype in an individual with an XY karyotype and testes producing age-appropriate normal concentrations of androgens. Conclusion This case report highlights the advantage of laparoscopy as a diagnostic and treatment tool in a twelve year old girl with multiple intra-abdominal findings. While the ultimate diagnosis responsible for her symptom of RIF pain was acute appendicitis, the additional diagnosis of CAIS and incidental Meckel's would have otherwise likely gone undetected.
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    ABSTRACT: •A seminoma developed in a patient with androgen insensitivity syndrome.•The patient had a de novo androgen receptor mutation.•Proper management of AIS, including appropriate genetic counseling, is necessary.
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