Congenital Adrenal Hypoplasia, X-linked (NR0B1)
Congenital adrenal hypoplasia (NR0B1-related) is an X-linked recessive disease caused by pathogenic variants in the gene NR0B1. This disorder is primarily characterized by adrenal insufficiency and/or hypogonadotropic hypogonadism. Adrenal insufficiency typically begins in infancy or childhood. Symptoms can include hypoglycemia, dehydration, underdeveloped reproductive tissues, delayed puberty, cryptorchidism in males, absence of menstruation in females, and infertility. Although this is an X-linked condition, heterozygous females may occasionally present with adrenal insufficiency or HH. Reduction of life expectancy due to the increasing severity of symptoms or complications of primary adrenal failure during early infancy may occur.
For information about carrier frequency and residual risk, please see the residual risk table.