X-Linked Adrenal Hypoplasia Congenita

**Semantic type:** Disease or Syndrome

**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.

**Synonyms:** - Adrenal Hypoplasia Congenita