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Article

Clinical and genetic heterogeneity of congenital adrenal hypoplasia due to <i>NR0B1</i> gene mutations

8 Jun 2009

Abstract excerpt

INTRODUCTION: X-linked adrenal hypoplasia congenita (AHC) is a rare disorder caused by mutations or complete deletion of the NR0B1 gene that encodes the DAX-1 protein, an orphan member of the nuclear receptor superfamily. AHC is characterized by adrenal insufficiency in infancy and early childhood. Later, hypogonadotropic hypogonadism (HH) manifests as pubertal failure. PATIENTS AND METHODS: We evaluated the...

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PMID: 19508677
DOI: 10.1111/j.1365-2265.2009.03652.x

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