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Article

Salt-Losing 21-Hydroxylase Deficiency Caused by Double Homozygosity for Two "Mild" Mutations.

The Journal of clinical endocrinology and metabolism - 23 Jan 2021

Ilany Jacob, Liu Jiayan, Welsch Christoph, Reznik-Wolf Haike, Levy-Lahad Ephrat, Auchus Richard J

Abstract excerpt

CONTEXT: Congenital adrenal hyperplasia due to 21-hydroxylase deficiency presents with different severities that correlate with the genotype. The salt-losing phenotype requires 2 alleles with "severe" mutations. CASE DESCRIPTION: We present a case of salt-losing 21-hydroxylase deficiency that was found to be homozygous for 2 "mild" pathogenic variants: V281L and S301Y. Both in silico and heterologous expression...

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Identifiers

PMID: 33245778
DOI: 10.1210/clinem/dgaa875

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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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