17-Hydroxyprogesterone (17-OHP) is a steroid hormone involved in the synthesis of cortisol.
- Cortisol synthesis requires multiple enzymes, and if one or more of these enzymes is deficient or dysfunctional, cortisol production is impaired, leading to congenital adrenal hyperplasia (CAH).
- The most common cause of CAH is a partial or complete deficiency of the enzyme 21-hydroxylase.
Pathophysiology of 17-OHP in CAH
- When 21-hydroxylase is absent, cortisol cannot be synthesized in sufficient amounts.
- Due to negative feedback, the pituitary gland stimulates adrenal gland growth (adrenal hyperplasia).
- However, enlarging the adrenal glands does not compensate for the cortisol synthesis block.
- Instead, other steroid precursors that do not require the defective enzyme, such as 17-OHP and androgens, accumulate excessively.
- The analysis is performed on a blood sample drawn from a vein.
- The test should be taken after 8–14 hours of fasting.
- Before the test, avoid:
- Physical and emotional stress
- If not otherwise specified by a doctor, women should take the test on days 2–4 of their menstrual cycle.
Suspected Congenital Adrenal Hyperplasia (CAH)
In Women:
- Hirsutism (excessive hair growth)
- Irregular menstrual cycles
- Development of secondary male sexual characteristics
- Infertility
In Men:
- Precocious (early) puberty
- Infertility
Elevated 17-OHP levels indicate congenital adrenal hyperplasia (CAH).
High 17-OHP levels correlate with the severity of ischemic heart disease (IHD).
Normal 17-OHP levels suggest the absence of IHD due to 21-hydroxylase deficiency.
A decrease in 17-OHP levels in patients with CAH under medical supervision indicates a positive response to treatment.