46. Genital differences with Congenital Adrenal Hyperplasia- adolescent choices. A retrospective review of new patients seen in a specialist multi-disciplinary service between 2018-2024.

Abstract

Background

Congenital Adrenal Hyperplasia(CAH) is associated with genital differences including urogenital sinus anomalies and clitoral enlargement. Surgery in childhood is criticised as non-consensual genital surgery associated with risks and without functional indication in children. In adolescent and adult services surgery can be considered in mature individuals. There is limited data on the decisions of patients in these services considering genitoplasty. This project aimed to describe the decisions of patients with CAH referred to a specialist multi-disciplinary service for genital differences.

Methods

A 6-year retrospective review of new adolescent patients(aged 10-25) referred with genital differences associated with CAH to a specialist multi-disciplinary clinic with gynaecology, psychology, clinical nurse specialist and endocrinology. Data was extracted from electronic patient records on demographics, medical history and clinic outcomes. The data was analysed on Excel.

Results

Fifty-eight patients were identified with a median age at first appointment of 17years (10-25years). There was no issue with menstrual obstruction or recurrent urinary tract infections in any patients. The majority (34/58 58%) of patients had undergone genital surgery in infancy: 24/58 vaginal and clitoral surgery, 6/58 vaginoplasty, 2/58 clitoral reduction. Of these, three had had repeat procedures in childhood on either their vagina (2/3) or clitoris (1/3). There were 8/34 who were unaware, and 8/34 unsure,of what genital surgery they had previously had. One third of patients (23/58 39%) did not want to proceed with review of their genital differences preferring to defer the option of examination. 8/23 of these young people had not previously undergone surgery (with 1/8 late onset). Of those wanting to explore genital differences, 22/35 were planned for examination under anaesthesia (11/22 also having psychology input to support them considering clitoral concerns and options). There were 7/35 patients with clitoral issues and raised testosterone were planned for psychology and endocrinology input ahead of further gynaecology review. Six (6/635) patients following examination in clinic were offered vaginal dilation therapy, 4/35 felt ready to start this.

Conclusions

Genital differences with CAH, can be explored with the support of a specialised MDT service, at a time that is led by the individual affected.