ea0039ep72 | Gonadal, DSD and reproduction | BSPED2015
Webb Emma A
, Saraff Vrinda
, Hughes Lowri
, Allen S
, Cole Tim
, Dattani M T
, Hughes I A
, Kirk J M W
, Fews G
, Krone N P
Background: Accurate genetic diagnosis is essential in disorders of sex development (DSD), guiding medical management and enabling optimal personalized care delivery.Case presentation: Two siblings (I and II) with a family history of 17β-hydroxysteroid dehydroxygenase (17β-HSD3) deficiency presented postnatally with isolated labial swelling. Karyotype was 46,XY and urinary steroid profile (USP) normal. HCG-stimulated testosterone/androstenedion...