CYP17A1

(redirected from 17-hydroxylase)

CYP17A1

A gene on chromosome 10q24.3 that encodes a member of the cytochrome P450 superfamily of enzymes, which catalyse reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. CYP17A1 localises to the endoplasmic reticulum and has 17 alpha-hydroxylase and 17, 20-lyase activities; it is a key enzyme in the steroidogenic pathway that produces progestins, mineralocorticoids, glucocorticoids, androgens and oestrogens.

Molecular pathology
CYP17A1 mutations are associated with isolated steroid-17 alpha-hydroxylase deficiency, 17-alpha-hydroxylase/17, 20-lyase deficiency, pseudohermaphroditism and adrenal hyperplasia.
References in periodicals archive ?
17-hydroxylase deficiency (17OHD) is a rare form of congenital adrenal hyperplasia (CAH).
Two Prevalent CYP17 Mutations and Genotype-Phenotype Correlations in 24 Brazilian Patients with 17-Hydroxylase Deficiency.
Indeed, it carries out two enzymatic activities: the 17-hydroxylase and the 17,20-lyase activity.
This picture confirms that both the 17-hydroxylase and the 17,20-lyase activity are essential for gonadal steroidogenesis [21].
As a result of the examinations, she was diagnosed with "male pseudohermaphroditism (17-hydroxylase deficiency)." During this period, prednisolone 5 mg/day was administered due to adrenal insufficiency, and she has been followed-up in the clinic at regular intervals.
(3,5) These associated adrenal pathologic conditions include adrenocortical hyperplasia, (3) adrenocortical adenomas, (3,5) adrenocortical carcinomas, (5) and endocrinologic dysfunctions, including Addison disease, (4) Conn syndrome, (5) 21-hydroxylase deficiency, (3) 17-hydroxylase deficiency, (6) and ectopic corticotropin production.
17-hydroxylase deficiency (17OHD) is a very rare disorder characterized by glucocorticoid deficiency, hypergonadotropic hypogonadism, hypertension, and hypopotassemia.
17-hydroxylase deficiency (17-OHD), a rare cause of congenital adrenal hyperplasia, is associated with hypertension and remarkable hypokalemia.