Congenital adrenal hypoplasia and DAX-1 gene mutations |
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Authors: | Tabarin A |
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Affiliation: | Département d'Endocrinologie et Maladies Métaboliques. CHU de Bordeaux, H?pital du Haut Lévêque, 33604 Pessac, France. |
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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. |
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