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Influence of genotype and hyperandrogenism on sexual function, gender role and sexual preference in 35 females with congenital adrenal hyperplasia

Schernthaner-Reiter, MH1; Baumgartner-Parzer, S1; Stabel, H1; Fölhs, K1; Vytiska-Binstorfer, E1; Margreiter, M1; Egarter, HC1; Krebs, M1; Luger, A1; Gessl, A1Bayerle-Eder, M1

1: Medical University of Vienna, Austria

Objectives: Depending on the underlying CYP21A2 mutations, congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency leads to a spectrum of different biochemical (hyperandrogenism, hypocortisolism and hypoaldosteronism) and phenotypic (virilisation, hirsutism) disease severities and could influence sexual function and identity. We studied sexual function, gender role and sexual preference in women with classic and nonclassic CAH.

Materials and Methods: Depending on their phenotype and genotype, 35 females with CAH were divided into two groups: classic CAH (salt-wasting or simple virilizing, n=17) and nonclassic CAH (mild phenotype, n=18). Sexual function and sexual distress, subjective assessment of gender role and sexual satisfaction were assessed using established questionnaires (FSFI, FSDS, BSRI). Phenotype (as defined by signs of hyperandrogenism) was assessed clinically (Ferriman-Gallwey score) as well as with the ovulatory function index.

Results: Diagnosis was earlier (0.05 vs 21.9 years, p<0.001) and menarche was later (15.8 vs 12.8 years, p=0.009) in women with classic CAH compared to women with nonclassic CAH. Concerning sexual function, women with nonclassic CAH had lower orgasm scores as well as a trend towards lower sexual function in all FSFI-domains with higher sexual distress. Women with nonclassic CAH had biochemical evidence of hyperandrogenism (higher DHEA-S, lower SHBG) as well as a trend towards more clinical signs of hyperandrogenism (acne, hirsutism) compared to those with classic CAH. The presence of acne was associated with lower sexual function, sexual activity, sexual satisfaction and with higher sexual distress. More women with classic CAH identified as homosexual (p=0.062).

Conclusions: Women with nonclassic CAH as well as women with clinical signs of hyperandrogenism demonstrated higher distress in relation to different aspects of sexual function. These data underline the importance of early diagnosis and therapy initiation especially in patients with nonclassic CAH.

M.H.S.-R. and S.B.-P. contributed equally to this work.


Work supported by industry: no.

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