Impaired Sexual and Reproductive Outcomes in Women with Classical Forms of Congenital Adrenal Hyperplasia

Abstract

Objectives:The objectives of the study were 2-fold: 1) a detailed description of sexual and reproductive outcomes in adult women with congenital adrenal hyperplasia (CAH) of different phenotypic severity at birth; and 2) comparisons of these outcomes among CAH subtypes and between CAH women and non-CAH control women.Design: This was a cross-sectional study using a face-to-face interview, a written questionnaire, the Female Sexual Function Index, and a gynecological examination. Patients: Patients included 35 women with CAH, representingPrader stages I-V at birth, aged 18 -43 yr, who had been treated from birth to adolescence in the same pediatric endocrine clinics. Sixtynine non-CAH healthy control women were selected from hospitalstaff families.Results: None of the CAH women expressed doubts about their gender assignment. Twenty percent (seven of 35) had homosexual inclinations; 23% (eight of 35) were married; three reported a complete lack of sexual activity; and 37% (13 of 35) said they never had heterosexual intercourse with vaginal penetration. Sexual functioning as assessed by the Female Sexual Function Index was much lower in CAH women than controls and lowest in CAH women with high Prader stages. Eighty-one percent (18 of 22) experienced pain during vaginal penetration. Only eight women became pregnant, and 17% (six of 35) had children. Conclusions

Growth and Reproductive Outcomes in Congenital Adrenal Hyperplasia

“…Sexual function is reduced in women with CAH compared to controls, and it is lowest in women with the most severe degrees of virilization. In a study from France [85], 81% of women with CAH reported pain during vaginal penetration, and half were noted to have moderate or severe stenosis of their introitus. The live-birth rate in classic salt-wasting forms has been reported to be 0% to 10%, in simple virilizing forms 33% to 50%, and in non-classic forms 63% to 90% [84].…”

Long-Term Gynecological Outcomes in Women with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

“…In Turner syndrome, uterine hypoplasia is reported [12], and achievement of normal uterine growth during hormone replacement therapy in adolescence and early adulthood is likewise difficult. A suboptimal uterine development may contribute to the lower fertility rates seen in CAH females [13, 14], and may be associated with a higher prevalence of miscarriage and premature birth. …”

Non-classic congenital adrenal hyperplasia

“…Infertility is inextricably related to self-esteem and psychosocial adjustment. The anatomic concerns related to women with classic CAH such as pain with vaginal penetration are generally not germane for women with NCAH [83]. As surgical, medical, and psychological treatments have improved, more women with classic and NCAH have successfully completed pregnancies and given birth [84].…”