Also Known As
AHCadrenal hypoplasia congenitaX-linked adrenal hypoplasia congenitaX-linked congenital adrenal hypoplasiaadrenal hypoplasia, congenital, X-linked recessivecongenital adrenal hypoplasiaAHC with HHGAHC with isolated gonadotropin deficiencyAddison disease, X-linkedX-linked AHCadrenal hypoplasia, congenitaladrenal hypoplasia, congenital, with hypogonadotropic hypogonadismadrenal hypoplasia, congenital, with precocious pubertyadrenal insufficiency, progressive, and hypogonadotropic hypogonadismcytomegalic adrenocortical hypoplasiacytomegalic congenital adrenal hypoplasiamineralocorticoid deficiency, isolated
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.