Co-Existence of Congenital Adrenal Hyperplasia and Bartter Syndrome due to Maternal Uniparental Isodisomy of <b><i>HSD3B2</i></b> and <b><i>CLCNKB</i></b> Mutations
Abstract
<b><i>Introduction:</i></b> We present a patient with co-existence of 3β-hydroxysteroid dehydrogenase type 2 (HSD3B2) deficiency and Bartter syndrome, a unique dual combination of opposing pathologies that has not been reported previously in the literature. <b><i>Case:</i></b> A female infant (46,XX) born at 34/40 weeks’ gestation, weighing 2.67 kg (−1.54 standard deviation score) to...
Paper Details
Title
Co-Existence of Congenital Adrenal Hyperplasia and Bartter Syndrome due to Maternal Uniparental Isodisomy of <b><i>HSD3B2</i></b> and <b><i>CLCNKB</i></b> Mutations
Published Date
Jan 1, 2020
Volume
93
Issue
2
Pages
137 - 142
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