CYP17A1 : cytochrome P450 family 17 subfamily A member 1

The CYP17A1 Gene: A Key Player in Hormone Production

Description

The CYP17A1 gene encodes an enzyme that plays a crucial role in the synthesis of steroid hormones, essential for various physiological processes. Steroid hormones, including testosterone, estrogen, mineralocorticoids, and glucocorticoids, regulate sexual development, reproduction, salt and water balance, and glucose metabolism. The CYP17A1 enzyme catalyzes two important reactions in the hormone synthesis pathway: 17 alpha (α)-hydroxylase activity and 17,20-lyase activity.

Associated Diseases

Mutations in the CYP17A1 gene can lead to several disorders:

• Congenital Adrenal Hyperplasia (CAH): A group of inherited conditions where the adrenal glands fail to produce enough steroid hormones, resulting in abnormal sexual development, electrolyte imbalances, and elevated blood pressure.
• Polycystic Ovary Syndrome (PCOS): A hormonal disorder in women characterized by irregular menstrual cycles, elevated levels of androgen hormones, and the presence of cysts on the ovaries.
• Premature Adrenarche: The early onset of adrenal hormone production in children, which can lead to precocious puberty.

Did you Know ?

In females with PCOS, approximately 80% have an underlying mutation in the CYP17A1 gene. This suggests a significant genetic contribution to the development of PCOS.