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Co-Existence of Congenital Adrenal Hyperplasia and Bartter Syndrome due to Maternal Uniparental Isodisomy of HSD3B2 and CLCNKB Mutations.

Hormone research in paediatrics - 1 Jan 2020

Giri Dinesh, Bockenhauer Detlef, Deshpande Charu, Achermann John C, Taylor Norman F, Rumsby Gill, Morgan Henry, Senniappan Senthil, Ajzensztejn Michal

Abstract excerpt

INTRODUCTION: 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. CASE: A female infant (46,XX) born at 34/40 weeks' gestation, weighing 2.67 kg (-1.54 standard deviation score) to non-consanguineous parents presented on day 4 of life...

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Source

Identifiers

PMID: 32506065
DOI: 10.1159/000507577

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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