Perception of women with classic congenital adrenal hyperplasia and their parents on genital surgery and a diagnosis of differences of sex development: a retrospective survey

TL;DR

This study explores the perspectives of women with classic congenital adrenal hyperplasia and their parents regarding early genital surgery and the use of the term DSD.

Contribution

The study provides new insights into patient and parental perspectives on early genital surgery and terminology preferences in classic CAH.

Findings

Most patients and parents found the term 'DSD' inappropriate for CAH.

Parents made the surgical decision in 95.5% of cases.

Despite sexual dysfunction, patients reported good sexual quality of life.

Abstract

Classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency leads to adrenal androgen excess, regularly causing prenatal virilisation of the external genitalia in affected females, commonly corrected by early genital surgery. As this practice is controversial, this study retrospectively assessed patients’ and parents’ perspective on this matter.

Adult female patients with classic CAH who had undergone genital surgery and their parents participated in this single-centre, cross-sectional survey study. Patients completed the female Sexual Function Index (fSFI) and female Sexual Quality of Life (SQOL-F), while parents completed the Decision Regret Scale (DRS).

Among 46 patients, 45.7% had one genital surgery, while 54.3% had multiple procedures. Most (80.4%) had their first surgery by the age of five, of which seven had a second surgery by the age of five. In 95.5% of cases, the surgical decision was made by parents. Median (IQR) fSFI score was 20.3 (5.3) and the median (IQR) SQOL-F score was 97.0 (32.5). Among 22 parents, 70.5% showed no or mild regret concerning the decision for surgery, while 29.4% reported moderate to strong regret. Most patients (63.0%) and parents (86.4%) found the term “DSD” inappropriate for CAH.

Women with classic CAH often undergo early genital surgery, with their parents being mostly responsible for treatment decisions. Despite sexual dysfunction, patients show good sexual quality of life. Most patients and parents have few or no regrets about the decision to have early genital surgery performed and are largely critical of CAH being labelled as DSD.

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