ea0045p45 | Gonadal, DSD and reproduction | BSPED2016
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...