Article
Congenital adrenal hypoplasia and DAX-1 gene mutations.
Annales d'endocrinologie - 1 Apr 2001
Tabarin A
Abstract excerpt
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...
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