ESPE Yearbook of Paediatric Endocrinology

J Endocr Soc. 2025 Feb 19;9(3):bvaf014. doi: 10.1210/jendso/bvaf014

Brief summary: This retrospective cohort study evaluated long-term outcomes in 60 DSD patients who underwent feminizing genitoplasty in Brazil between 1965 and 2016. The cohort included 36 with CAH and 24 with non-CAH etiologies. The median follow-up age was 25 years, with a median follow-up duration of 12 years.

This study assessed genital morphology, sensation, sexual function, and satisfaction of the participants. Most patients had a visible clitoris (91%) and 2 separate perineal openings (85%), with 80% requiring no further surgery. Surgical complications, including persistent urogenital sinus, vaginal stenosis, and clitoromegaly, were relatively uncommon, and reoperation was needed in 18%. Advances in surgical technique, such as dorsal neurovascular bundle (DNVB) preservation and refined urogenital sinus repair, contributed to improved outcomes.

Sensory testing showed that genital sensitivity was largely preserved. While non-CAH patients had slightly lower clitoral touch sensitivity, this did not impact overall function. Sexual function scores were within the normal range, and successful intercourse and pregnancies were reported among CAH patients. High satisfaction rates were observed among both patients and parents, with many favouring early surgery. Notably, better vaginal, rather than clitoral, sensitivitycorrelated more strongly with sexual satisfaction, highlighting its importance in this cohort. While limitations include the retrospective nature of surgical data and variability in techniques over time, this study’s long follow-up and consistent evaluations strengthen its conclusions.

The study emphasizes the value of individualized, multidisciplinary care integrating surgery, endocrinology, and psychological support. Despite overall positive outcomes, the optimal timing of surgery remains debated. The dsd-LIFE study, a large multicenter analysis of 174 women with classical CAH, reported dissatisfaction and complications in a subset of cases who undergone early FGS. It stressed the importance of fully informing families about potential risks and supporting the option to delay surgery (2).

In summary, FGS can offer favourable long-term results in selected cases when performed by experienced teams using modern techniques, but careful case-by-case decision-making and family counselling remain essential.

References: 1. Baskin LS, Erol A, Li YW, Liu WH, Kurzrock E, Cunha GR. Anatomical studies of the human clitoris. J Urol. 1999 Sep;162(3 Pt 2):1015-20. PMID: 10458423.

2. Krege S, Falhammar H, Lax H, Roehle R, Claahsen-van der Grinten H, Kortmann B, Duranteau L, Nordenskjöld A; dsd-LIFE group. Long-Term Results of Surgical Treatment and Patient-Reported Outcomes in Congenital Adrenal Hyperplasia-A Multicenter European Registry Study. J Clin Med. 2022 Aug 8;11(15):4629. PMID: 35956243.