Article
A novel mutation in DAX1 causes delayed-onset adrenal insufficiency and incomplete hypogonadotropic hypogonadism.
The Journal of clinical investigation - 1 Feb 2000
Tabarin A, Achermann J C, Recan D, Bex V, Bertagna X, Christin-Maitre S, Ito M, Jameson J L, Bouchard P
Abstract excerpt
Mutations in the DAX1 gene cause X-linked adrenal hypoplasia congenita (AHC) and hypogonadotropic hypogonadism (HHG). In affected boys, primary adrenal insufficiency occurs soon after birth or during early childhood; HHG is recognized at the expected time of puberty. In this report, we describe the novel phenotype of a man who presented with apparently isolated adrenal insufficiency at 28 years of age....
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