Endocrine Abstracts

Background: Congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH) is associated with ACTH-driven adrenal androgen excess. In women with classic CAH, this regularly causes prenatal virilisation of the external genitalia, commonly corrected by genital surgery during the first years of life. This practice, however, has been questioned and is discussed highly controversial. The aim of this study was to retrospectively assess the perspective of affected patients and their parents on genital surgery in CAH.

Methods: Adult female patients with classic CAH and their parents were enrolled in this single-center, cross-sectional, survey study. The patient’s questionnaire included the female Sexual Function Index (fSFI; score 0-36) and female Sexual Quality of Life (SQOL-F; score 8-108) questionnaire, whilst the parent’s questionnaire contained the Decision Regret Scale (DRS; score 0-100), with higher scores indicating better sexual function, better sexual quality of life or higher levels of regret.

Results: A total of 46 females with a mean age of 34.9 years (18-66) and 22 parents with a mean age of 60.5 years (47-80) were included in this study. All patients had classic CAH, 29 (63.0%) salt-wasting (SW), 17 (37.0%) simple-virilizing (SV) CAH. About half of the patients (45.7%) had undergone one genital surgery in their life, 52.2 % more than one. Most surgeries (60.9%) were performed up to the age of 5 years, 9.4% at 6-11 years, 21.9% at 12-17 years and 7.9% at 18 years and older. According to the patients, in 67.2% of cases, the decision to undergo surgery had been made by parents, in 3.8% of cases by the patients and in 19.2% of cases together. The fSFI was completed by 25 patients with a total median (IQR) score of 20.2 (5.7) the SQOL-F with a median (IQR) score of 93.0 (31.0) by 31 patients. There were no significant statistical differences between SW and SV patients in fSFI (18.4 (6.8) vs. 20.3 (4.5); P=.177) or SQOL-F (93.0 (52.6) vs. 94.0 (29.4); P=.435). Concerning the parents, 72.2 % showed no to mild regret concerning the decision of surgery (DRS 0-25) and 27.8% showed moderate to strong regret (DRS >26).

Conclusion: Female patients with classic CAH often undergo genital surgery at a young age, with their parents mostly responsible for treatment decisions. As adults, they present with sexual dysfunction whilst showing good sexual quality of life. Most parents have few or no regrets about the decision to have genital surgery performed on their children.