What does CYP17A1 do?
The CYP17A1 gene provides instructions for making a member of the cytochrome P450 enzyme family. Like other cytochrome P450 enzymes, CYP17A1 is involved in the formation (synthesis) of steroid hormones.
What is the function of 17 alpha hydroxylase?
The enzyme has 17 alpha(α)-hydroxylase activity, which is important for production of glucocorticoids and sex hormones. CYP17A1 also has 17,20-lyase activity, which is integral to the production of sex hormones. 17α-hydroxylase/17,20-lyase deficiency results from a shortage (deficiency) of both enzyme activities.
What is the CYP17 gene?
Abstract. The cytochrome P-450c17alpha (CYP17 ) gene, located on chromosome 10q24. 3, encodes the enzyme cytochrome P-450c17alpha, which functions at key branch points in steroid hormone biosynthesis.
What is P450c17 enzyme deficiency?
Context: The characteristics of P450c17 deficiency include 46,XY disorder of sex development, hypertension, hypokalemia, and lack of pubertal development. Objective: To better understand this rare enzymatic deficiency, we analyzed the CYP17A1 gene in six affected patients.
What does low hydroxyprogesterone mean?
Normal 17-OHP results mean that it is likely that the person tested does not have CAH due to a 21-hydroxylase deficiency. Low or decreasing concentrations in a person with CAH indicate a response to treatment. High or increasing levels may indicate that changes in treatment are required.
What causes low hydroxyprogesterone levels?
Low values of 17-OHP are found in adrenal hypofunction, whether of adrenal or hypothalamic/pituitary origin. The most frequent cause of a low 17-OHP concentration is suppression of the pituitary–adrenal axis by synthetic glucocorticoids given therapeutically.
What are the symptoms of low progesterone?
Here are some signs that you might have low progesterone:
- Abdominal pain.
- Breasts that are often sore.
- Spotting between periods.
- Vaginal dryness.
- Depression, anxiety, or mood swings.
- Low libido.
- Low blood sugar.
- Headaches or migraines.
Can CAH be cured?
In people who have CAH , a genetic problem results in a lack of one of the enzymes needed to make these hormones. Although there is no cure, with proper treatment, most people who have congenital adrenal hyperplasia can lead normal lives.
What causes CAH syndrome?
Congenital adrenal hyperplasia is an inherited condition caused by mutations in genes that code for enzymes involved in making steroid hormones in the adrenal glands. The most common enzyme defect, 21-hydroxylase deficiency, leads to excess amounts of male hormones being produced by the adrenal glands.