Adrenal hypoplasia congenital (AHC) is an inherited disorder of the adrenal cortex commonly manifested as an early onset adrenal insufficiency syndrome. AHC includes X-linked form, a rare autosomal recessive form [DS:H02316], and IMAGE syndrome [DS:H02319]. If untreated, adrenal insufficiency is rapidly lethal as a result of hyperkalemia, acidosis, hypoglycemia, and shock. A constant feature of the X-linked AHC is the association with hypogonadotropic hypogonadism (HHG). Affected males typically have delayed puberty or arrested puberty caused by HHG. Mutations in the DAX-1 (NR0B1) gene are responsible for X-linked AHC.
Category
Endocrine and metabolic disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Structural developmental anomalies primarily affecting one body system
Structural developmental anomalies of the adrenal glands
LC80 Congenital adrenal hypoplasia
H01772 Adrenal hypoplasia, congenital
Pathway-based classification of diseases [BR:br08402]
Endocrine system
nt06310 CRH-ACTH-cortisol signaling
H01772 Adrenal hypoplasia, congenital
