Non-Classic Congenital Adrenal Hyperplasia

In 2013, a review was conducted on Non-classic congenital adrenal hyperplasia (NCAH), a common disorder due to 21-hydroxylase deficiency, with a prevalence of 1 in 1000. The disorder often presents with symptoms of androgen excess, including hirsutism, acne, androgenic alopecia, anovulation, menstrual dysfunction, and infertility. The disorder is caused by mutations in the CYP21A2 gene and is typically diagnosed via an acute ACTH stimulation test. The review emphasized that clinical features should guide management, not just hormonal and molecular findings. Women with NCAH often experience subfertility due to excessive adrenal and ovarian androgen secretion, elevated 17-OHP and progesterone concentrations, and poor self-esteem. The review suggested preconception genetic counseling and glucocorticoids to decrease miscarriage risk. It also mentioned a case where a couple with NCAH achieved pregnancy after 40 days of hydrocortisone treatment. The review also discussed the risk of having a child with CAH, prenatal treatment, and complications such as adrenal tumors and testicular adrenal rest tumors (TARTs).