PREGNENOLONE LC/MS/MS

PREGNENOLONE

Pregnenolone is a chemical substance that is a precursor to all steroid hormones. This test measures the amount of pregnenolone in the blood in order to help detect rare forms of congenital adrenal hyperplasia (CAH).

CAH is a group of inherited disorders associated with deficiencies in the enzymes required for the production of the steroid hormones. CAH may be due to:

• 21-hydroxylase deficiency, the most common cause of CAH (about 90% of cases)
• 11-beta-hydroxylase deficiency (about 5-8% of cases)
• 3-beta-hydroxysteroid dehydrogenase and 17-alpha-hydroxylase deficiencies, two rare forms of the disease
• Lipoid CAH, also very rare, is most often due to a defect in the StAR gene, which codes for the Steroidogenic acute regulatory protein, which, in turn, regulates the conversion of cholesterol to pregnenolone.

For normal steroid hormone production, cholesterol is converted into pregnenolone in the adrenal glands and then several enzymes complete the production of multiple hormones, including:

• Cortisol, which helps metabolize proteins, lipids, and carbohydrates, maintain blood pressure, and regulate the immune system
• Aldosterone, which maintains normal sodium and potassium levels in the blood and helps control blood volume and pressure
• Sex steroid hormones – including androgens, the “male hormones” such as testosterone, and “female” hormones including estrogen and progesterone, which are responsible for the development and maintenance of male and female secondary sexual characteristics