X-linked adrenal hypoplasia congenita

info · Genetic

An adrenal cortical hypofunction that is characterized by a reduction in adrenal gland function resulting from incomplete development of the adrenal cortex and has_material_basis_in the nuclear receptor NR0B1 (DAX1) gene.

Signs and symptoms

Oligozoospermia
Hypogonadotropic hypogonadism
Muscular dystrophy
Decreased circulating cortisol level
Precocious puberty
Failure to thrive
Absence of pubertal development
Hyponatremia
Dehydration
Adrenal insufficiency

Also known as: congenital adrenal hypoplasia