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Article

Late-onset X-linked adrenal hypoplasia (DAX-1, NR0B1): two new adult-onset cases from a single center.

Pituitary - 1 Oct 2017

Kyriakakis Nikolaos, Shonibare Tolulope, Kyaw-Tun Julie, Lynch Julie, Lagos Carlos F, Achermann John C, Murray Robert D

Abstract excerpt

PURPOSE: DAX-1 (NR0B1) is an orphan nuclear receptor, which plays a critical role in development and regulation of the adrenal gland and hypothalamo-pituitary-gonadal axis. Mutations in NR0B1 lead to adrenal hypoplasia congenita (AHC), hypogonadotropic hypogonadism (HH) and azoospermia in men. Presentation is typically with adrenal insufficiency (AI) during infancy or childhood. To date only eight cases/kindreds...

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Identifiers

PMID: 28741070
DOI: 10.1007/s11102-017-0822-x
PMCID: PMC5606946

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