Endocrine Abstracts

Disorders of sex development (DSD) are a collection of rare congenital conditions with diverse features and pathophysiology. Patients usually present at birth with atypical genitalia or with delayed puberty in adolescence. Biochemical and cytogenetic investigations may provide guidance on the underlying cause, however molecular genetic analysis is usually required to provide a definitive diagnosis and allows for personalised management of the patient. The current diagnostic se...