X-linked adrenal hypoplasia congenital

Pathology

• developmental disorder of the adrenal gland
• absence of permanent zone of the adrenal cortex & by a structural disorganization of the glands.

Genetics

• X-linked
• associated with defects in NR0B1

Clinical manifestations

• profound hormonal deficiencies
• hypogonadotropic hypogonadism frequently associated
  • abnormally decreased gonadal function
  • retardation of growth & sexual development

Complications

lethal if untreated

Management

• see primary adrenal failure

More general terms

• Addison's disease (primary adrenal failure)
• X-linked disease
• genetic disease of the endocrine system
• congenital anomaly (birth defect)

Database

• OMIM: https://mirror.omim.org/entry/300200