Endocrine Abstracts

Introduction: Differences/Disorders in Sex Development (DSD) represent a diverse range of conditions that present at various stages of life. A multidisciplinary team (MDT) approach is required to reach a specific diagnosis and management plan, but few large single centre studies of the range and prevalence of diagnoses have been undertaken.Method: Medical records of all children with DSD discussed at a single MDT between 1-Jan-1996 and 31-Dec-2015 (n...

Introduction: 5-alpha reductase deficiency (5aRD) is a rare cause of 46XY DSD, that affects sex development before birth and during puberty. The incidence is unknown; affected individuals have been described from all around the world, particularly in small communities or where consanguinity is common.Methods: A 20-year retrospective review of presenting features, biochemical data and genetic analysis of all patients presenting to a single multidisciplina...