Congenital adrenal hyperplasia (CYP21OHA/B: P30L, V282L, Q319X, IVS2-13 A/C, 707-714 8bp del, I173N) (6)

Adrenogenital syndrome is a pathological hereditary condition caused by a congenital dysfunction of the adrenal cortex, usually accompanied by a lack of glucocorticoids in the body and an excess of androgens. The most severe salt-wasting form manifests itself in a violation of salt metabolism (lack of mineralocorticoids) and is characterized by a complete deficiency of the enzyme. Due to the fact that the production of excess hormones affects an already sexually mature fetus, the changes in primary and secondary sexual characteristics are all the more pronounced the earlier the increased function of the adrenal cortex develops during fetal development.