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Article

Novel mutations in DAX1 of X-linked adrenal hypoplasia congenita over several generations in one family.

Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists - 1 Jan 2000

Xu Xiao-qin, Feng Yue-ying, Yuan Wen-xia, Huang Ke, Liang Li, Fu Jun-fen

Abstract excerpt

OBJECTIVE: X-linked adrenal hypoplasia congenital (AHC) is a rare disorder caused by mutations in DAX1 gene. We report a case of X-linked AHC in a large family to analyze the pathogenesis of this rare disease and to add to our clinical knowledge of it. METHODS: We describe 3-year-old boy's clinical features and laboratory test results, as well as the patient's nuclear family members' clinical symptoms, especially...

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PMID: 23512386
DOI: 10.4158/EP12368.CR

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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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