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Article

Severe Salt-Losing 3β-Hydroxysteroid Dehydrogenase Deficiency: Treatment and Outcomes of HSD3B2 c.35G>A Homozygotes.

The Journal of clinical endocrinology and metabolism - 1 Aug 2015

Benkert Abigail R, Young Millie, Robinson Donna, Hendrickson Christine, Lee Peter A, Strauss Kevin A

Abstract excerpt

CONTEXT: 3-β-hydroxysteroid dehydrogenase (HSD3B2) deficiency accounts for less than 5% of congenital adrenal hyperplasia worldwide, but is relatively common among the Old Order Amish of North America due to a HSD3B2 c.35G>A founder mutation. OBJECTIVE: We review clinical presentation, disease course, treatment, and outcomes of a genetically homogenous population of HSD3B2-deficient patients. DESIGN AND...

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PMID: 26079780
DOI: 10.1210/jc.2015-2098

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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