X-linked adrenal hypoplasia congenita

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Disease Overview

X-linked adrenal hypoplasia congenita is an inherited disorder that mainly affects males. It involves many hormone-producing (endocrine) tissues in the body, particularly a pair of small glands on top of each kidney called the adrenal glands. These glands produce a variety of hormones that regulate many essential functions in the body. Congenital adrenal hypoplasia is characterized by adrenal insufficiency, which may be life threatening, and hypogonadotropic hypogonadism. Congenital adrenal hypoplasia is caused by mutations in the NR0B1 gene. It is inherited in an X-linked recessive pattern.[5396]


Synonyms

  • X-linked congenital adrenal hypoplasia
  • X-linked AHC
  • Adrenal hypoplasia congenita
  • Congenital adrenal hypoplasia

For more information, visit GARD.

National Organization for Rare Disorders