The Pregnenolone, LC/MS/MS test contains 1 test with 1 biomarker.
Description: A pregnenolone test is used to measure the amount of pregnenolone in the blood. This is used to detect a rare genetic condition that affects the production of steroid hormones.
Also Known As: Pregnenolone blood Test
Collection Method: Blood Draw
Specimen Type: Serum
Test Preparation: No preparation required
When is a Pregnenolone test ordered?
When an infant's outward sex organs are not obviously male or female, as well as indicators of adrenal insufficiency, excessive sodium and fluid loss, or high blood pressure, pregnenolone is prescribed. It's frequently requested after 17-OHP testing.
This test is typically given when a doctor suspects or wants to rule out a CAH other than 21-hydroxylase deficit or 11-beta-hydroxylase deficiency as the cause of symptoms. Among the indications and symptoms that an affected individual may experience are:
Both males and females may show indications of adrenal insufficiency and "salt wasting" when they have 3-beta-hydroxysteroid dehydrogenase deficiency.
What does a Pregnenolone blood test check for?
Pregnenolone is a molecule that serves as a precursor to all steroid hormones. This test detects rare forms of congenital adrenal hyperplasia by measuring the amount of pregnenolone in the blood.
CAH is a set of hereditary illnesses characterized by enzyme defects in the steroid hormone synthesis process. CAH can be caused by a variety of factors, including:
The most frequent cause of CAH is a 21-hydroxylase deficiency.
Deficiency of 11-beta-hydroxylase
Two rare manifestations of the condition are 3-beta-hydroxysteroid dehydrogenase and 17-alpha-hydroxylase deficits.
Cholesterol is converted to pregnenolone in the adrenal glands for regular steroid hormone production, and subsequently many enzymes finish the creation of several hormones, including:
Cortisol is a hormone that aids in the metabolism of proteins, fats, and carbohydrates, as well as maintaining blood pressure and immune system regulation.
Aldosterone helps regulate blood pressure and volume by keeping normal levels of sodium and potassium in the circulation.
The growth and upkeep of male and female secondary sexual characteristics are regulated by steroid hormones known as androgens, or "male hormones," such as testosterone, and estrogens, or "female hormones," such as estrogen and progesterone.
One or more enzymes are defective or malfunctioning in congenital adrenal hyperplasia, resulting in insufficient levels of one or more end products. The adrenal gland grows in size as the level of a pituitary hormone that encourages adrenal growth and hormone production rises due to a low cortisol level. The increased size and activity, however, are insufficient to overcome the cortisol production bottleneck. Other compounds will be created in excess that do not require the faulty enzyme.
The enzyme deficit in CAH can result in a drop in cortisol and/or aldosterone, as well as an increase or decrease in androgens in rare situations. Androgen deficiency can result in male neonates having external sex organs that aren't unmistakably male or female, as well as affecting the development of secondary sexual characteristics in both males and females during puberty.
Laboratory testing can assess pregnenolone, various intermediate precursors, and one or more steroid hormones to determine which enzyme is inadequate or malfunctioning, based on which products have been created and how much.
If both 21- and 11-hydroxylase defects have been ruled out, pregnenolone analyses, as well as testing for other precursors, may be utilized to assist determine if the patient has 3-beta-hydrosteroid dehydrogenase or 17-alpha-hydroxylase deficit.
Lab tests often ordered with Pregnenolone test:
Conditions where a Pregnenolone test is recommended:
- Adrenal Insufficiency
- Endocrine Syndromes
- Congenital Adrenal Hyperplasia
How does my health care provider use a Pregnenolone test?
Pregnenolone is usually ordered as part of a panel of tests to diagnose, monitor, and/or rule out two of the more uncommon forms of congenital adrenal hyperplasia. After the more prevalent causes of CAH have been ruled out, the test is usually used.
CAH is a category of hereditary illnesses caused by a defect in one of the enzymes involved in steroid hormone synthesis. The following are two of the most common causes of CAH:
- Deficiency of the enzyme 21-hydroxylase
- Deficiency of 11-beta-hydroxylase
CAH comes in two types, both of which are extremely rare:
- Deficiency of 3-beta-hydroxysteroid dehydrogenase
- Deficiency of 17-alpha-hydroxylase
A test that evaluates 17-hydroxyprogesterone is used to screen all neonates for the most prevalent cause of CAH. If the results of this test are aberrant, ACTH testing may be performed, followed by groups or panels of precursors and hormones to determine which enzyme deficits are present. To assist diagnose 11-beta-hydroxylase deficiency, 11-deoxycorticosterone and 11-deoxycortisol tests are used.
If the two most frequent types of CAH have been ruled out, particularly if a baby's external sex organs aren't obviously male or female, the following tests may be requested to rule out the rare variants as the origin of a person's symptoms:
What do my pregnenolone test results mean?
In general, if an enzyme deficit occurs somewhere in the steroid hormone synthesis process, pregnenolone levels will rise mildly to significantly. The extent of the rise is determined on the enzyme deficiency and the severity of the deficiency. Pregnenolone results must be read in conjunction with those of other precursors and hormones.
Pregnenolone, 17-hydroxypregnenolone, and DHEA are frequently high in 3-beta-hydroxysteroid dehydrogenase insufficiency, and 17-OHP may also be elevated. Cortisol and aldosterone levels are likely to be low if they are measured.
Pregnenolone and progesterone, as well as 11-deoxycorticosterone, may be high in 17-alpha-hydroxylase deficiency. Other hormones and precursors, if measured, could be low, including:
We advise having your results reviewed by a licensed medical healthcare professional for proper interpretation of your results.