hrp0086p1-p14 | Adrenal P1 | ESPE2016

A Unique Case of Dual Opposing Pathologies

Viseras Irene Fernandez , Giri Dinesh , Bockenhauer Detlef , Deshpande Charu , Achermann John , Taylor Norman , Rumsby Gill , Senniappan Senthil , Ajzensztejn Michal

Background: We present a patient with co-existence of two rare conditions 3β-Hydroxysteroid dehydrogenase type 2 deficiency (HSD3B2) the rarest form of Congenital Adrenal Hyperplasia (CAH) and Bartter’s Syndrome (hypokalaemic alkalosis secondary to hyperaldosteronism).Case Report: A female infant (46XX) born at 34/40 weeks weighing 2.67 kg to non-consanguineous parents presented on day four of life with significant weight loss. Subsequent inves...