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Article

A new DAX-1 mutation in a family with a case of neonatal adrenal insufficiency and a sibling with adrenal hypoplasia and sudden death at 3 years of age.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Sept 2007

Mericq Verónica, Ciaccio Marta, Marino Roxana, Lamoglia Juan Javier, Viterbo Gisella, Rivarola Marco A, Belgorosky Alicia

Abstract excerpt

Adrenal hypoplasia congenita (AHC) is a hereditary disorder that leads to adrenal insufficiency and hypogonadotropic hypogonadism (HHG) in childhood. The gene responsible for the X-linked form of AHC, DAX1 (dosage-sensitive sex-reversal, AHC, on the X-chromosome, gene 1)/NR0B1, encodes for a nuclear factor which lacks the characteristic zinc finger DNA-binding domain that is highly conserved in nuclear receptors....

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Identifiers

PMID: 18038713
DOI: 10.1515/jpem.2007.20.9.1039

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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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