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.

A Rare Cause of Congenital Adrenal Hyperplasia: Clinical and Genetic Findings and Follow-up Characteristics of Six Patients with 17-Hydroxylase Deficiency Including Two Novel Mutations

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].

46,XY Disorder of Sex Development Caused by 17[alpha]-Hydroxylase/17,20-Lyase Deficiency due to Homozygous Mutation of CYP17A1 Gene: Consequences of Late Diagnosis

Adrenal myelolipoma in a woman with congenital 17-hydroxylase deficiency.

Seventeen alpha-hydroxylase deficiency associated with absent gonads and myelolipoma: a case report and review of literature

Distinctive profile of the 17-hydroxylase and 17,20-lyase activities revealed by urinary steroid metabolomes of patients with CYP17 deficiency.

Delayed puberty from 17alpha-hydroxylase/17,-20-lyase deficiency: Case report/Puberdade tardia por deficiencia de 17alfa-hidroxilase/17-20 liase: Relato de caso/Pubertad tardia por deficiencia de 17 alfa-hidroxilasa 17-20 liasa: Caso clinico

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.

The phenomenology of delusions in a patient with disorders of sex development

Congenital adrenal hyperplasia secondary to 17-hydroxylase deficiency.

Congenital adrenal hyperplasia due to 17-alpha-hydoxylase/17,20-lyase deficiency presenting with hypertension and pseudohermaphroditism: first case report from Oman

Diagnosis and treatment of 17-hydroxylase deficiency.

Two cousins with 17-alpha hydroxylase deficiency/ 17 alfa hidroksilaz eksikligi Olan Akraba iki Olgu

(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.

Myelolipoma associated with adrenal ganglioneuroma

17-hydroxylase deficiency (17OHD) is a very rare disorder characterized by glucocorticoid deficiency, hypergonadotropic hypogonadism, hypertension, and hypopotassemia.

17-Hydroxylase Deficiency: Rare Cause of Delayed Puberty

17-hydroxylase deficiency (17-OHD), a rare cause of congenital adrenal hyperplasia, is associated with hypertension and remarkable hypokalemia.

Delayed Diagnosis of a 17-Hydroxylase/17,20-Lyase Deficient Patient Presenting as a 46,XY Female: A Low Normal Potassium Level Can Be an Alerting Diagnostic Sign