CYP17 Gene ∞ Area

CYP17 Gene

Meaning

The CYP17 gene directs synthesis of cytochrome P450c17, an enzyme crucial for steroid hormone production. This enzyme exhibits 17-alpha-hydroxylase and 17,20-lyase activities, essential for creating glucocorticoids, mineralocorticoids, and sex steroids. Its proper function ensures physiological hormonal balance.

Context

This gene primarily functions within adrenal glands and gonads (testes and ovaries). It holds a central position in the steroidogenesis pathway, converting cholesterol into various steroid hormones. The CYP17 gene’s influence within this pathway determines the body’s production of cortisol, androgens, and estrogens.

Significance

Genetic variations or dysregulation of the CYP17 gene profoundly affect endocrine health, leading to clinical conditions. Its activity is directly relevant to diagnosing and managing disorders such as congenital adrenal hyperplasia (CAH), polycystic ovary syndrome (PCOS), and specific forms of hypertension. Understanding its role guides clinicians in interpreting hormone profiles and developing targeted treatment plans.

Mechanism

The enzyme encoded by CYP17, CYP17A1, performs two sequential catalytic actions. Its 17-alpha-hydroxylase activity converts pregnenolone and progesterone into their 17-hydroxy derivatives. Subsequently, the 17,20-lyase activity transforms these 17-hydroxylated precursors into dehydroepiandrosterone (DHEA) and androstenedione. These precursors are vital for testosterone and estrogen synthesis.

Application

Clinical understanding of the CYP17 gene supports genetic testing for individuals suspected of specific congenital adrenal hyperplasia forms, particularly 17-alpha-hydroxylase deficiency. Pharmacological inhibitors of CYP17 activity treat hormone-sensitive cancers, like metastatic prostate cancer, by reducing androgen production. It is also considered in reproductive health concerns linked to androgen excess.

Metric

The functional status of the CYP17 gene is typically assessed indirectly by measuring specific steroid hormone levels. In suspected CYP17 deficiency, clinicians evaluate serum levels of 17-hydroxyprogesterone, DHEA, androstenedione, and cortisol. Elevated precursor steroids and diminished end-product hormones can indicate enzymatic dysfunction. Genetic sequencing identifies gene mutations.

Risk

Dysfunction of the CYP17 gene presents distinct clinical risks. Deficiency in its activity, known as 17-alpha-hydroxylase deficiency, impairs sex steroid and cortisol production, leading to primary amenorrhea, sexual infantilism, and hypertension from excessive mineralocorticoid synthesis. Conversely, altered CYP17 activity may contribute to androgen excess conditions. Pharmacological inhibition, while therapeutic, can induce adrenal insufficiency and mineralocorticoid excess, requiring vigilant patient monitoring.

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HRTioAugust 1, 2025

CYP17 Gene

Meaning

Context

Significance

Mechanism

Application

Metric

Risk

Are There Genetic Factors Influencing Lifestyle’s Effect on Testosterone?

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