Inborn errors of steroid metabolism

An inborn error of steroid metabolism is an inborn error of metabolism due to defects in steroid metabolism. == Types == A variety of conditions of abnormal steroidogenesis exist due to genetic mutations in the steroidogenic enzymes involved in the process, of which include: === Generalized === 20,22-Desmolase (P450scc) deficiency: blocks production of all steroid hormones from cholesterol 3β-Hydroxysteroid dehydrogenase 2 deficiency: impairs progestogen and androgen metabolism; prevents the synthesis of estrogens, glucocorticoids, and mineralocorticoids; causes androgen deficiency in males and androgen excess in females Combined 17α-hydroxylase/17,20-lyase deficiency: impairs progestogen metabolism; prevents androgen, estrogen, and glucocorticoid synthesis; causes mineralocorticoid excess Cytochrome P450 oxidoreductase deficiency: prevents production of numerous but not all sex steroids, as well as other metabolic reactions === Androgen- and estrogen-specific === Isolated 17,20-lyase deficiency: prevents androgen and estrogen synthesis.

Source: Wikipedia — Inborn errors of steroid metabolism (CC BY-SA 4.0)