Pregnenolone
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At a Glance
Why Get Tested?
To help detect and monitor treatment for rare types of genetic conditions that affect production of steroid hormones; some of these are called congenital adrenal hyperplasia (CAH). In addition, pregnenolone tests may be ordered by health care practitioners to help rule out other conditions.
When To Get Tested?
When an infant has external sex organs that are not clearly male or female (ambiguous genitalia) and/or has low or high blood pressure, low blood potassium (hypokalemia), or signs of excess loss of salt (salt wasting); when the most common cause for CAH, a 21-hydroxylase deficiency, has been ruled out; when a teen fails to develop secondary sexual characteristics and/or has delayed puberty
Sample Required?
A blood sample drawn from a vein
Test Preparation Needed?
The healthcare practitioner may or may not request a morning sample and may or may not give an injection such as ACTH to stimulate steroid hormone release.
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The reference ranges for your tests can be found on your laboratory report. They are typically found to the right of your results.
If you do not have your lab report, consult your healthcare provider or the laboratory that performed the test(s) to obtain the reference range.
Laboratory test results are not meaningful by themselves. Their meaning comes from comparison to reference ranges. Reference ranges are the values expected for a healthy person. They are sometimes called “normal” values. By comparing your test results with reference values, you and your healthcare provider can see if any of your test results fall outside the range of expected values. Values that are outside expected ranges can provide clues to help identify possible conditions or diseases.
While accuracy of laboratory testing has significantly evolved over the past few decades, some lab-to-lab variability can occur due to differences in testing equipment, chemical reagents, and techniques. This is a reason why so few reference ranges are provided on this site. It is important to know that you must use the range supplied by the laboratory that performed your test to evaluate whether your results are “within normal limits.”
For more information, please read the article Reference Ranges and What They Mean.
What is being tested?
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
Because a low level of cortisol causes the level of a pituitary hormone that stimulates adrenal growth and hormone production (adrenocorticotropic hormone, or ACTH) to become elevated, the adrenal gland increases in size. However, the increased size and activity cannot overcome the block in cortisol production. Other substances (such as pregnenolone) that do not need the defective enzyme will be produced in excess.
With CAH, the enzyme deficiency can cause a decrease in cortisol and/or aldosterone and, in some cases, an increase or decrease in androgens. Deficient androgens can cause male newborns to be born with external sex organs that are not clearly male or female (ambiguous genitalia) and can affect the development of secondary sexual characteristics of both males and females at puberty.
Pregnenolone, several of the intermediate precursors, and one or more of the steroid hormones can be measured by laboratory tests to determine which step is deficient or defective, based upon which products have been produced and how much and which precursors are in excess.
If both 21- and 11-hydroxylase deficiencies have been ruled out (the most common forms of CAH), then analysis of pregnenolone, along with tests for other precursors, may be used to help establish a diagnosis of 3-beta-hydrosteroid dehydrogenase or 17-alpha-hydroxylase or StAR deficiency.
Common Questions
View Sources
Sources Used in Current Review
2019 review performed by Donald Walt Chandler, PhD, Endocrinology Discipline Director, LabCorp and Endocrine Sciences.
Manna PR, Stetson CL, Slominski AT, Pruitt K. Role of the steroidogenic acute regulatory protein in health and disease. Endocrine. 2016 Jan;51(1):7-21. doi:10.1007/s12020-015-0715-6. Epub 2015 Aug 14. Review. PubMed PMID: 26271515; PubMed Central PMCID: PMC4707056.
Miller WL. Steroid hormone synthesis in mitochondria. Mol Cell Endocrinol. 2013 Oct 15;379(1-2):62-73. doi: 10.1016/j.mce.2013.04.014. Epub 2013 Apr 28. PubMed PMID: 23628605.
Katsumata N. Genetic defects in pregnenolone synthesis. Pediatr Endocrinol Rev. 2012 Oct;10 Suppl 1:98-109. Review. PubMed PMID: 23330251.
Weng JH, Chung BC. Nongenomic actions of neurosteroid pregnenolone and its metabolites. Steroids. 2016 Jul;111:54-59. doi: 10.1016/j.steroids.2016.01.017. Epub 2016 Feb 1. Review. PubMed PMID: 26844377.
Marx CE, Lee J, Subramaniam M, Rapisarda A, Bautista DC, Chan E, Kilts JD, Buchanan RW, Wai EP, Verma S, Sim K, Hariram J, Jacob R, Keefe RS, Chong SA. Proof-of-concept randomized controlled trial of pregnenolone in schizophrenia. Psychopharmacology (Berl). 2014 Sep;231(17):3647-62. doi: 10.1007/s00213-014-3673-4. Epub 2014 Jul 17. PubMed PMID: 25030803.
Sripada RK, Marx CE, King AP, Rampton JC, Ho SS, Liberzon I. Allopregnanolone elevations following pregnenolone administration are associated with enhanced activation of emotion regulation neurocircuits. Biol Psychiatry. 2013 Jun 1;73(11):1045-53. doi: 10.1016/j.biopsych.2012.12.008. Epub 2013 Jan 21. PubMed PMID: 23348009; PubMed Central PMCID: PMC3648625.
Sources Used in Previous Reviews
Frindik, J. P. (Updated 2012 May 10). 17-Hydroxylase Deficiency Syndrome. Medscape Reference [On-line information]. Available online at http://emedicine.medscape.com/article/920532-overview. Accessed June 2013.
(© 1995–2013). Pregnenolone, Serum. Mayo Clinic Mayo Medical Laboratories [On-line information]. Available online at http://www.mayomedicallaboratories.com/test-catalog/Overview/88645. Accessed June 2013.
Morley, J. (Revised 2013 February). Endocrine Disorders. Merck Manual for Healthcare Professionals [On-line information]. Available online through http://www.merckmanuals.com. Accessed June 2013.
Meikle, A. W. (2011 May). Adrenal Steroids Panel: High Specificity Lc-Ms/Ms Test For 11-Deoxycortisol, 17-Hydroxyprogesterone, 17-Hydroxypregnenolone, And Pregnenolone In Serum. ARUP Technical Information [On-line information]. Available online at http://www.aruplab.com/guides/ug/tests/iconpdf_25.pdf. Accessed June 2013.
Meikle, A. W. (Updated 2013 January). Congenital Adrenal Hyperplasia – CAH. ARUP Consult [On-line information]. Available online at http://www.arupconsult.com/Topics/CAH.html?client_ID=LTD. Accessed June 2013.
Wilson, T. (Updated 2013 June 13). Congenital Adrenal Hyperplasia. Medscape Reference [On-line information]. Available online at http://emedicine.medscape.com/article/919218-overview. Accessed May 2013.
Frindik, J. P. (Updated 2012 May 30). 3-Beta-Hydroxysteroid Dehydrogenase Deficiency. Medscape Reference [On-line information]. Available online at http://emedicine.medscape.com/article/920621-overview. Accessed June 2013.
(Reviewed 2010 February). 3-beta-hydroxysteroid dehydrogenase deficiency. Genetics Home Reference [On-line information]. Available online at http://ghr.nlm.nih.gov/condition/3-beta-hydroxysteroid-dehydrogenase-deficiency. Accessed June 2013.
Miller, W. (2012 January). The Syndrome of 17,20 Lyase Deficiency. J Clin Endocrinol Metab v 97(1):59–67. [On-line information]. Available online at http://jcem.endojournals.org/content/97/1/59.full.pdf. Accessed June 2013.
A.D.A.M. Health Solutions (Updated 2012 May 8). Congenital Adrenal Hyperplasia. MedlinePlus Medical Encyclopedia [On-line information]. Available online at http://www.nlm.nih.gov/medlineplus/ency/article/000411.htm. Accessed June 2013.
Scott, H. et. al. (2009 December 1). Steroidogenesis in the Fetal Testis and Its Susceptibility to Disruption by Exogenous Compounds. Endocrine Reviews v 30 (7) 883-925 [On-line information]. Available online at http://edrv.endojournals.org/content/30/7/883.full. Accessed June 2013.
Kushnir, M. et. al. (2006 August) Development and Performance Evaluation of a Tandem Mass Spectrometry Assay for 4 Adrenal Steroids. Clinical Chemistry v 52 (8) 1559-1567 [On-line information]. Available online at http://www.clinchem.org/content/52/8/1559.full.pdf+html?sid=9d621d7c-9a8b-42c2-85f5-a0df3a464b7a. Accessed June 2013.
Strushkevich, N. et. al. (2011 June 21). Structural basis for pregnenolone biosynthesis by the mitochondrial monooxygenase system. Proc Natl Acad Sci U S A. v 108 (25): 10139–10143. [On-line information]. Available online at http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3121847/. Accessed June 2013.
Haider, S. (2007 June 1). Leydig Cell Steroidogenesis: Unmasking the Functional Importance of Mitochondria. Endocrinology v 148 (6) 2581-2582 http://endo.endojournals.org/content/148/6/2581.full. Accessed June 2013.
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