Gender role behavior, sexuality, and psychosocial adaptation in women with congenital adrenal hyperplasia due to CYP21A2 deficiency.
Level 4 - case-series / case-control
Case-control study comparing patients with congenital adrenal hyperplasia to matched controls
PubMed 19567521 · doi:10.1210/jc.2009-0636
What was done
Sixty-two Swedish women with congenital adrenal hyperplasia (CAH) due to CYP21A2 deficiency and age-matched female controls completed a 120-item questionnaire and the Psychological General Well-Being (PGWB) inventory. Patients were stratified into four CYP21A2 genotype groups to assess correlations with health-related, psychosexual, and psychosocial parameters.
What was found
Women with CAH had higher rates of male-dominated occupations compared to controls (30% vs. 13%, P = 0.04), which was highest in the null genotype group (55%, P = 0.006). Patients also showed greater interest in rough sports (74% vs. 50%, P = 0.007) and motor vehicles (14% vs. 0%, P = 0.002). Non-heterosexual orientation was reported by 19% of women with CAH versus controls (P = 0.005), including 50% in the null genotype group (P = 0.0001), 30% in the I2 splice group (not significant), and 5% in the I172N group (not significant). Total PGWB scores did not differ significantly between patients and controls.
Why it matters
The findings demonstrate a genotype-related gradient in gender role behavior and sexual orientation in women with CAH, supporting the role of prenatal androgen exposure in brain development, while showing that general psychological quality of life is maintained.
Limits
The abstract does not state the number of control participants. All behavioral and psychosexual outcomes were derived from self-reported questionnaires. Subgroup analyses across the four genotype groups involved small sample sizes, limiting statistical power for intermediate severity groups.
Cited by
- supports Women with congenital adrenal hyperplasia are more likely to report same-sex sexual attraction than the general population, with the reported percentage of lesbian orientation increasing with age.