ea0045p44 | Gonadal, DSD and reproduction | BSPED2016
Giri Dinesh
, Viseras Irene
, Bockenhauer Detlef
, Deshpande Charu
, Achermann John
, Taylor Norman
, Rumsby Gill
, Senniappan Senthil
, Ajzensztejn Michal
Introduction: We present a patient with co-existence of 3β-Hydroxysteroid dehydrogenase type 2 deficiency (HSD3B2) the rarest form of Congenital Adrenal Hyperplasia (CAH) and Bartter Syndrome (hypokalaemic alkalosis secondary to hyperaldosteronism), a unique dual combination of opposing pathologies that has never been reported in the literature.Case Report: A female infant (46XX) born at 34/40 weeks gestation, weighing 2.67 Kg (−1.54 SDS) to n...