Congenital adrenal hypoplasia and DAX-1 gene mutations.

A Tabarin

Journal: Annales d'endocrinologie 2001;62(2):202-6

PMID: 11353895

Full Text on Masson (France) View on PubMed

Abstract

DAX-1 is a member of the orphan nuclear hormone receptor family. Its mutations cause X-linked adrenal hypoplasia congenita, a disease characterized by adrenal insufficiency due to impaired organogenesis of the adrenal cortex and hypogonadotrophic hypogonadism. We review herein the pathologic and clinical features of the disease and describe some recent advances in the clinical expression of X-linked adrenal hypoplasia congenita.

Address: Département d'Endocrinologie et Maladies Métaboliques. CHU de Bordeaux, Hôpital du Haut Lévêque, 33604 Pessac, France.

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MeSH Terms: Adrenal Insufficiency, DAX-1 Orphan Nuclear Receptor, DNA-Binding Proteins, Female, Genetic Linkage, Humans, Male, Mutation, Phenotype, Receptors, Retinoic Acid, Repressor Proteins, Transcription Factors, X Chromosome