Differences of sex development (DSD) comprise a heterogeneous group of congenital conditions affecting urogenital and reproductive development. Variations in sex determination can cause a mismatch between chromosomal, gonadal and phenotypic sex, leading to atypical internal and/or external genitalia. Presentations are varied and most commonly occur in the newborn period and during adolescence. Clinical care is complex and diagnostic pathways may be protracted. Decisions around sex assignment carry ethical considerations and can place a considerable psychological burden on families. This 15-minute guide summarises a practical, stepwise approach for general paediatric and neonatal teams: when to suspect DSD, how to examine and communicate, the first-line investigations to initiate, when/how to escalate to the multidisciplinary DSD service, and how to support families.
Eddy et al. (Tue,) studied this question.