Reconstructive surgery for females with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: A review from the Prince of Wales Hospital

Abstract

Objectives: To present the results of feminising genitoplasty done in female patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Design: Case series. Setting: A tertiary referral centre in Hong Kong. Patients: Female patients with congenital adrenal hyperplasia undergoing corrective surgery for virilisation between 1993 and 2012. Conclusions: Nearly three quarters of our cohort (n=17) presented with classic virilising form of 21-hydroxylase deficiency. Only four (25%) patients experienced a salt-losing crisis. Female gender assignment at birth was maintained for all individuals in this group. ‘Good’ and ‘satisfactory’ outcomes of surgery were reported in nearly all participants. Main outcome measures: The operative result was judged with a scoring system (1-3) for four areas: appearance of clitoris, labia and vagina, plus requirement for revision surgery. Results: A total of 23 female patients with congenital adrenal hyperplasia with a median age of 17.5 (range, 1.5-33.8) years were identified. Of these individuals, 17 presented in the neonatal period and early infancy, of which four had an additional salt-losing crisis. Six patients—including four migrants from mainland China—were late presenters at a median age of 2 (range, 0.5-14) years. Twenty-two patients had corrective surgery at a median age of 2 (range, 1-14) years. Clitoral reduction was performed in all, and further surgery in 21 patients. The additional surgery was flap vaginoplasty in 10 patients, a modified Passerini procedure in six, and a labial reconstruction in five; one patient with prominent clitoris was for observation only. Minor revision surgery (eg mucosal trimming) was required in three patients; a revision vaginoplasty was done in one individual. Of the 23 patients, 18 (78%) with a median age of 20 (range, 9.3- 33.8) years participated in the outcome evaluation: a ‘good’ outcome (4 points) was seen in 12 patients and a ‘satisfactory’ (5-9 points) result in five patients.