A guide to differences/disorders of sex development/intersex in children and adolescents.

BACKGROUND: Differences/disorders of sex development (DSD) or 'intersex' encompass a broad range of congenital variations in the complex pathways involved in the development of sex characteristics. Components of these pathways include sex chromosomes, genes involved in gonadal development, hormone production and action, and the development of internal and external genital structures. Many variations are rare, and some (eg congenital adrenal hyperplasia) are associated with urgent medical needs. People born with variations in sex characteristics may present in the neonatal period with atypical genitalia, during childhood and adolescence with atypical pubertal development or in adulthood with hormone imbalance, fertility issues and/or sexual health concerns.

OBJECTIVE: An overview of DSD is presented in relation to presenting features and management challenges in the paediatric population.

DISCUSSION: An experienced multidisciplinary team that uses a shared decision-making approach with a medical, surgical, ethical, psychological and human rights framework is required to maximise long-term positive outcomes for people born with variations in sex characteristics.