title: Congenital adrenal hypoplasia and DAX-1 gene mutations.
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.
authors.affiliation: Département d'Endocrinologie et Maladies Métaboliques. CHU de Bordeaux, Hôpital du Haut Lévêque, 33604 Pessac, France.
authors.forename: A
authors.initials: A
authors.lastname: Tabarin
mesh_terms: D000309:Adrenal Insufficiency / Q000151:congenital / Q000235:genetics*; D057137:DAX-1 Orphan Nuclear Receptor; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D009154:Mutation; D010641:Phenotype; D018168:Receptors, Retinoic Acid / Q000235:genetics*; D012097:Repressor Proteins; D014157:Transcription Factors / Q000235:genetics*; D014960:X Chromosome
chemical_list: D057137:DAX-1 Orphan Nuclear Receptor; D004268:DNA-Binding Proteins; C539965:NR0B1 protein, human; D018168:Receptors, Retinoic Acid; D012097:Repressor Proteins; D014157:Transcription Factors