Searchable abstracts of presentations at key conferences in endocrinology

ea0023p29 | (1) | BSPED2009

46, XY DSD: A case of clinical and biochemical conflict

Myers Aisling , Hughes Ieuan , Achermann John , Lynch Sally Ann , Roche Edna , Hoey Hilary

Introduction: We describe a case of 17- beta hydroxysteroid dehyrogenase Type III (17-╬▓HSD3) deficiency in a girl from the travelling community. This case demonstrates how the clinical picture may not correlate with the biochemical results.Case: A 4.7 year old girl presented for elective hernia repair. Intraoperatively, what was felt to be a testis was palpated. Investigations revealed a 46, XY karyotype. Pelvic ultrasound demonstrated absence of mu...