CAH Women: Sexual and Reproductive Outcomes

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Gastaud et al performed a cross-sectional study using face to face interviews, written questionnaires, the Female Sexual Function Index (FSFI), a brief self-report measure of female sexual function and a gynecological examination in 35 women aged 18 to 43 years with congenital adrenal hyperplasia (CAH), presenting Prader stages I-V at birth who had been treated from birth to adolescence in the same pediatric endocrine clinic. The objectives of the study were to obtain a detailed description of sexual and reproductive outcomes in adult women with CAH and to compare these outcomes among CAH subtypes and with non-CAH controls. Fourteen of the CAH patients had presented with severe masculinization of their external genitalia at birth (11 with Prader IV and 3 with Prader V stages).

None of the patients expressed doubts about their gender assignment. At gynecological examination cosmetic and anatomic outcomes were considered good by both the patients and the examiner, and 65% of the subjects presented with a satisfactory clitoris, introitus and vagina. However, 9 of 35 patients (26%) were diagnosed with vaginal stenosis, 6 of these belonging to the Prader IV-V group at birth. Seven subjects (20%) reported homosexual inclinations, compared with 5.7% in the control group and 6.6% in a large survey of age-matched women in France (ACSF) and these tendencies were present in 43% (6 of 14) of the Prader IV-V women. A decrease in sexual function was noted when the 35 CAH patients were compared with the 69 healthy controls utilizing the FSFI questionnaire, thus 37% (13 of 35) reported never having sexual intercourse with vaginal penetration by their partners compared with 5% in the ACSF survey. Of these women, 8 attributed their lack of sexual intercourse to the anatomy of their genitalia, 2 believed intercourse would be painful and/or 7 had no partner; the 3 patients born Prader V were among this group. Some degree of pain during vaginal penetration was experienced by 56%, 9 of them presented with moderate or marked stenosis of their introitus. Eight patients cohabited with their partner or were married and 77% wished to be pregnant in the near future or at a later time. Eight subjects became pregnant, only one in the Prader IV-V group; however, only 17% (6 of 35) had children compared to 71% of French women in the ACSF survey. The authors concluded that despite the expert medical and surgical care received by these patients, women with CAH suffer  major limitations in their sexual function and their reproductive life.

Gastaud F, Bouvattier L, Duranteau L, et al. Impaired sexual and reproductive outcomes in women with classical forms of congenital adrenal hyperplasia. J Clin Endocrinol Metab. 2007;92:1391-6.

Editor’s Comment

Female neonates with CAH may present with some degree of masculinization of their external genitalia at birth and those with severe virilization (Prader stages IV-V) may require extensive surgery to correct for different degrees of clitoral enlargement and labio-scrotal fusion. In addition, many may develop chronic masculinization as a consequence of being exposed to an excess of adrenal androgens postnatally, with the development of hirsutism, acne, muscle hypertrophy and stature, all of which may affect their sexuality and their physical attractiveness.

A number of studies have shown that 46,XX CAH women develop female gender identities,1,2 but while earlier studies suggested that they had mostly satisfactory sexual intercourse,3 more recent reports have suggested that they may present with an increased incidence of sexual dysfunction, which seems to be largely related to difficulties in vaginal penetration.4,5 This seems to be true mainly for those with the most virilized external genitalia at birth, whereas CAH women with a lesser degree of sexual ambiguity at birth seem to have nearly normal sexual outcomes.

While cosmetic and anatomic outcomes of surgery were generally satisfactory to most patients and medical examiners, CAH women, particularly those with Prader IV-V stages, expressed an increased homosexual orientation and a decreased frequency of sexual intercourse. This report and previous studies seem to show that while a large percentage of women with CAH are satisfied with their physical and genital appearance, sexual dysfunction and impaired reproductive outcomes are frequent in this population and will require better medical and particularly surgical care, longer and more detailed follow up and the transmission of more comprehensive information to parents and/or patients of the risks to sexual function following reconstructive surgery.

Roberto Lanes, MD

References - (linked to Pubmed Links)

  1. Meyer-Bahlburg HF. Gender and sexuality in classical congenital adrenal hyperplasia. Endocrinol Metab Clin North Am. 2001;30:155-71.
  2. Hines M, Brook C, Conway GS. Androgen and  psychosexual development; core gender identity, sexual orientation and recalled childhood gender role behavior in women and men with congenital adrenal hyperplasia (CAH). J Sex Res. 2004;41:75-81.
  3. Azziz R, Mulaikai RM, Migeon CJ, et al. Congenital adrenal hyperplasia: long term results following vaginal reconstruction. Fertil Steril. 1986;46:1011-4.
  4. Wisniewski AB, Migeon CJ, Malouf MA, et al. Psychosexual outcome in women affected by congenital  adrenal  hyperplasia due to 21-hydroxylase deficiency. J Urol. 2004;171:2497-501.
  5. Minto CL, Liao LM, Woodhouse CR, Ransley PG, Creighton SM. The effect of clitoral surgery on sexual outcome in individuals who have intersex conditions with ambiguous genitalia: a cross-sectional study. Lancet. 2003;361:1252-7.

 

 

 

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