Disorders of sex development in Tunisian children: 15-year experience of a paediatric endocrinology unit

Abstract

The aim of this study was to describe clinical characteristics and aetiological diagnosis in children with disorders of sex development (DSD) presenting to the pediatric service of Béchir Hamza hospital. This is a retrospective descriptive study reviewing records of patients diagnosed with DSD over 15 years (2005-2020). Forty-five cases were included: 19 had 46,XX DSD and 20 had 46,XY DSD. The mean age at diagnosis was 2.4 years. Consanguinity was reported in 35%. The most common presenting symptom was ambiguous genitalia (76%). Congenital adrenal hyperplasia was the most frequent cause of 46,XX DSD. Seven children needed sex reassignment. Management requires a multidisciplinary team.