What is pregnenolone? It is a chemical substance that is a precursor to every steroid hormone. When it is present in the blood, it can help medical providers be able to diagnose rare forms of CAH (Congenital Adrenal Hyperplasia). CAH is a genetic disorder that creates deficiencies in the enzymes that are produced by the body for the steroid hormones. Cholesterol is converted into pregnenolone and then enzymes are used to create hormones like cortisol, testosterone, and estrogen.
This is a required screening test for all newborns in the United States. A positive test may result in further testing to determine which specific enzyme deficiencies are present. It is also ordered if a child is born as intersex or if there is high blood pressure present for the infant. Teen boys who have delayed puberty or breast enlargement may also have this test ordered, as will girls who display male hormone traits, accelerated growth, for may have ovarian cysts that are filled with fluid.
What Do the Test Results Mean?
A positive test result indicates that there is an enzyme deficiency present somewhere in the production process of steroid hormones. Any deficiency will typically create an increase in pregnenolone. The test results are often compared with other testing that is being conducted to determine a specific cause so a treatment plan may be developed.
If the test results indicate that CAH may be present, then a regular replacement of the missing hormone will usually be necessary. This may occur for a prolonged period of time and may involve the replacement of multiple hormones. Because this is an autosomal recessive disorder, both parents must be carriers for a child to be born with the condition. Even then, there is a 3 in 4 chance that the child will not have it.
Pregnenolone cannot be tested in the doctor’s office. Many medical providers do not even offer this blood test. Many patients find that their provider must send out the blood sample in order to have the results measured, which means it could take several weeks for the results to become available.
For children who are intersex, karyotyping may also be performed to determine if the newborn has XY or XX chromosomes. Treatment options will then be evaluated after all test results are received based on the severity of the condition.
The natural aging process does limit the levels of pregnenolone that the body is able to create. Around the age of 75, for example, a person’s body will produce up to 60% less of this hormone when compared to someone at the age of 35. It is considered a biomarker of aging, so improving results can actually lead to an improved quality of life, especially if the reduced production of the hormone is occurring early on in life.
Here’s What You Need To Know
In many ways pregnenolone is a base hormone. From it, many other hormones can be produced. If there is a deficiency in this hormone, then there will be other deficiencies that filter down through the enzyme chain. This hormone is also needed for children to have proper brain development, including mood regulation, short- and long-term memory recall, and cognition functions.
It is not necessary to fast for this blood test if it has been ordered. Unless told to stop by a medical provider, keep taking all medications.
Women who are taking birth control pills may need to stop taking them because of the increased levels of hormones that are typically present in the product. Any other supplemental hormones should be taken at least 2 hours before the blood draw occurs for the pregnenolone test so that the results are not invalidated.
Sometimes the pregnenolone blood test may show elevated hormone levels instead of low levels. One of the most important factors that creates this issue is the presence of chronic stress. Cortisol is produced when there are high stress levels and this hormone can have a devastating effect on the body. In order for more cortisol to be created, the body may need to produce more pregnenolone so that the enzymes can be converted.
Most people who have the pregnenolone blood test will have normal results. This is a fairly uncommon blood test for adults, but may be ordered under specific circumstances if CAH is suspected, but remains undiagnosed. For children and teens who receive this test, the results will help to dictate what an effective treatment plan should be.