Congenital Adrenal Hyperplasia by CheckRare Staff| Updated on: Jul 1, 2026

https://checkrare.com/congenital-adrenal-hyperplasia/ Congenital adrenal hyperplasia (CAH) is a group of rare autosomal, recessive genetic disorders that impair production of cortisol (also known as hydrocortisone).[1,2] The hypothalmus and pituitary gland are prompted to overproduce corticotropin-releasing hormone (CRH) and adrenocorticotrophic hormone (ACTH), causing an abnormal enlargement of the adrenal gland and accumulation of cortisol precursors produced by the adrenal gland.[1] With the inability to convert these precursors to cortisol, the body converts them to androgens (i.e., male hormones) instead, resulting in excess androgen concentrations.[3]