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ea0045p44 | Gonadal, DSD and reproduction | BSPED2016

Co-existence of congenital adrenal hyperplasia and bartter’s syndrome due to maternal uniparental isodisomy of HSD3B2 and CLCNKB mutations

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...

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Endocrine Abstracts

Co-existence of congenital adrenal hyperplasia and bartter’s syndrome due to maternal uniparental isodisomy of HSD3B2 and CLCNKB mutations

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