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Article

Clinical and functional effects of mutations in the DAX-1 gene in patients with adrenal hypoplasia congenita.

The Journal of clinical endocrinology and metabolism - 1 Feb 1999

Reutens A T, Achermann J C, Ito M, Ito M, Gu W X, Habiby R L, Donohoue P A, Pang S, Hindmarsh P C, Jameson J L

Abstract excerpt

Adrenal hypoplasia congenita (AHC) is an X-linked disorder caused by mutations in a gene referred to as DAX-1. AHC is characterized by adrenal insufficiency and failure to undergo puberty because of hypogonadotropic hypogonadism. The DAX-1 protein is structurally related to orphan nuclear receptors, although it lacks the characteristic zinc finger DNA-binding domain that is highly conserved in other members of...

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Identifiers

PMID: 10022408
DOI: 10.1210/jcem.84.2.5468

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Clinical and functional effects of mutations in the DAX-1 gene in patients with adrenal hypoplasia congenita.PMID 10022408Read ↗

Clinical and Functional Effects of Mutations in the DAX-1 Gene in Patients with Adrenal Hypoplasia CongenitaSemantic proximity Read ↗

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A novel mutation in DAX1 causes delayed-onset adrenal insufficiency and incomplete hypogonadotropic hypogonadism.Semantic proximity Read ↗

Seven novel DAX1 mutations with loss of function identified in Chinese patients with congenital adrenal hypoplasia.Semantic proximity Read ↗

Delayed-onset adrenal hypoplasia congenita and hypogonadotropic hypogonadism caused by a novel mutation in DAX1.Semantic proximity Read ↗

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