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Article

Novel non-stop variant of the NR0B1 gene in two siblings with adrenal hypoplasia congenita.

Journal of pediatric endocrinology & metabolism : JPEM - 27 Sept 2022

Ota Tomoko, Katsumata Noriyuki, Naiki Yasuhiro, Horikawa Reiko

Abstract excerpt

OBJECTIVES: Mutations in the dosage-sensitive sex reversal-AHC critical region on the X chromosome, gene 1 (DAX-1, officially NR0B1), cause X-linked adrenal hypoplasia congenita (AHC) and hypogonadotropic hypogonadism (HHG). Salt-losing adrenal insufficiency usually occurs during the neonatal period or early childhood. We report a novel non-stop variant of NR0B1 in two siblings and their unusual clinical course....

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Identifiers

PMID: 35848959
DOI: 10.1515/jpem-2022-0120

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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