" /> X-Linked Adrenal Hypoplasia Congenita - CISMeF





Preferred Label : X-Linked Adrenal Hypoplasia Congenita;

NCIt synonyms : Adrenal Hypoplasia Congenita;

NCIt definition : A X-linked condition characterized by underdevelopment of the adrenal gland and adrenal insufficiency caused by mutation(s) in the NR0B1 gene, resulting in decreased activity of the nuclear receptor protein DAX1, which may be associated with hypogonadotropic hypogonadism.;

Alternative definition : NICHD: An X-linked condition present at birth characterized by underdevelopment of the adrenal gland and adrenal insufficiency.;

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30/07/2025


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