Identification and Functional Analysis of Six Mutations in Patients With X-Linked Adrenal Hypoplasia Congenita.

Context: () mutations cause X-linked adrenal hypoplasia congenita (AHC) and hypogonadotropic hypogonadism (HH) in affected male patients. Affected individuals typically present with early-onset adrenal insufficiency and develop HH during puberty. Rare cases can present with late-onset adrenal insufficiency or other unusual phenotypes.