Searchable abstracts of presentations at key conferences in endocrinology

ea0033oc5.1 | Oral Communications 5 | BSPED2013

Joint BPSU-CAPSS Surveillance Study of Childhood Gender Identity Disorder

Khadr Sophie , Carmichael Polly , Holt Victoria , Roche Edna , Viner Russell

Aims: The incidence of childhood/adolescent gender identity disorder (GID) is unknown. GID is an important condition where gender identity differs from biological sex. It is associated with significant distress, particularly with puberty, with much controversy internationally over the optimal timing of hormonal treatment. We examine the incidence and clinical presentation in UK/Irish children and adolescents.Methods: Study population: UK/Irish children/a...

ea0045p45 | Gonadal, DSD and reproduction | BSPED2016

5-alpha reductase deficiency: insights into the diagnosis and management of a rare condition

Monti Elena , Man Elim , Torpiano John , Rumsby Gill , Carmichael Polly , Storr Helen , Brain Caroline , Buchanan Charles , Conway Gerard , Spoudeas Helen , Mushtaq Imran , Hussain Khalid , Hughes Ieuan , Greening James , Achermann John , Dattani Mehul

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...