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Submitted on August 14, 2006
Accepted on January 26, 2007
Centre de Référence des Maladies Rares de la Différenciation Sexuelle, Lyon-Paris; Pediatric and Adult Endocrinology, Necker Hospital, AP-HP, Paris V University, Paris; Pediatric Endocrinology, Saint Vincent de Paul Hospital, AP-HP, Paris V University, Paris
* To whom correspondence should be addressed. E-mail: pierre.bougneres{at}wanadoo.fr.
Objectives: 1) A detailed description of sexual and reproductive outcomes in adult women with congenital adrenal hyperplasia (CAH) of different phenotypic severity at birth 2) Comparisons of these outcomes among CAH subtypes and between CAH women and non-CAH control women.
Design: A cross-sectional study using a face-to-face interview, a written questionnaire, the Female Sexual Function Index (FSFI), and a gynaecological examination.
Patients: 35 women with CAH, representing Prader stages I-V at birth, aged 18-43 years, who had been treated from birth to adolescence in the same pediatric endocrine clinics. 69 non-CAH healthy control women selected from hospital-staff families.
Results: None of the CAH women expressed doubts about their gender assignment. 20% (7/35) had homosexual inclinations. 23% (8/35) were married. 3 reported a complete lack of sexual activity. 37% (13/35) said they never had heterosexual intercourse with vaginal penetration. Sexual functioning as assessed by the FSFI was much lower in CAH women than controls, and lowest in CAH women with high Prader stages. 81% (18/22) experienced pain during vaginal penetration. Only 8 women became pregnant, and 17% (6/35) had children.
Conclusions: Despite expert medical and surgical care by physicians dedicated to this rare disease, women with CAH still suffer major limitations in their sexual function and reproductive life.
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