Question 1

What is congenital adrenal hyperplasia?

Accepted Answer

Congenital adrenal hyperplasia (CAH) is a group of inherited disorders that affect the adrenal glands' ability to produce cortisol and aldosterone hormones. It is caused by genetic mutations in enzymes needed for steroid hormone production, most commonly 21-hydroxylase deficiency. The Testosterone, Free, Bioavailable and Total, LC/MS/MS test is the most important test for diagnosis because elevated testosterone levels directly indicate excess androgen production from the blocked cortisol pathway.

Question 2

What causes congenital adrenal hyperplasia?

Accepted Answer

Congenital adrenal hyperplasia is caused by inherited genetic mutations that affect enzymes responsible for producing cortisol and aldosterone in the adrenal glands. The most common cause is 21-hydroxylase enzyme deficiency, which accounts for about 95% of all CAH cases. When this enzyme is missing or deficient, the body cannot properly convert cholesterol into cortisol, causing precursor hormones to accumulate and convert into excess androgens like testosterone instead.

Question 3

What is the best test for congenital adrenal hyperplasia?

Accepted Answer

The Testosterone, Free, Bioavailable and Total, LC/MS/MS test is the most important test for congenital adrenal hyperplasia because it detects elevated androgen levels that result from blocked cortisol production. This comprehensive test measures all forms of testosterone using advanced mass spectrometry technology for precise results. The Estrone, LC/MS/MS test is also essential as a supporting test because CAH disrupts multiple hormone pathways, causing abnormal estrone levels that help confirm the diagnosis. Together, these hormone tests reveal the characteristic pattern of excess androgens and disrupted steroid production that defines CAH.

Question 4

When should I get tested for congenital adrenal hyperplasia?

Accepted Answer

You should get tested if you have symptoms like irregular periods, excessive body hair growth, severe acne, early puberty in children, or unexplained infertility. Testing is also important if you have a family history of CAH or if you experienced ambiguous genitalia at birth. Adults with unexplained fatigue, low blood pressure, salt cravings, or difficulty managing stress should also consider testing, as these symptoms may indicate undiagnosed mild or late-onset CAH.

Question 5

What are the symptoms of congenital adrenal hyperplasia?

Accepted Answer

Symptoms of congenital adrenal hyperplasia vary depending on severity and the specific enzyme deficiency. Classic CAH in newborns can cause ambiguous genitalia in females, salt-wasting crises with vomiting and dehydration, and life-threatening adrenal insufficiency. Late-onset CAH in adolescents and adults causes irregular menstrual periods, excess facial and body hair, severe acne, early pubic hair development, short adult height, and fertility problems. Both forms can cause fatigue, low blood pressure, and difficulty handling physical stress.

Question 6

Who is at risk for congenital adrenal hyperplasia?

Accepted Answer

Anyone with parents who both carry the CAH gene mutation is at risk, as the condition is inherited in an autosomal recessive pattern. CAH is more common in certain ethnic groups, including people of Ashkenazi Jewish, Hispanic, Mediterranean, and Slavic descent. If you have a sibling with CAH, you have a 25% chance of also having the condition if both parents are carriers. Family history of unexplained infant death, ambiguous genitalia, or hormonal disorders increases risk.

Question 7

What happens if congenital adrenal hyperplasia is left untreated?

Accepted Answer

Untreated congenital adrenal hyperplasia can lead to life-threatening adrenal crises with severe dehydration, dangerously low blood pressure, and electrolyte imbalances that can cause shock and death. Long-term complications include severely stunted growth in children, permanent infertility in both men and women, development of benign adrenal tumors, and increased cardiovascular disease risk. Women with untreated CAH may experience complete cessation of menstrual periods, while men may develop testicular adrenal rest tumors that damage fertility.

Question 8

Can congenital adrenal hyperplasia be diagnosed with a blood test?

Accepted Answer

Yes, congenital adrenal hyperplasia can be diagnosed with blood tests that measure hormone levels including testosterone, 17-hydroxyprogesterone, cortisol, ACTH, and estrone. The most diagnostic finding is elevated 17-hydroxyprogesterone combined with high testosterone levels, which indicates the characteristic enzyme blockage. Blood tests are typically done in the morning when hormone levels are highest, and an ACTH stimulation test may be performed to confirm the diagnosis by showing how your adrenal glands respond to hormonal stimulation.

Question 9

How is congenital adrenal hyperplasia treated?

Accepted Answer

Congenital adrenal hyperplasia is treated with daily hormone replacement therapy to replace the deficient cortisol and sometimes aldosterone. Most patients take hydrocortisone or other glucocorticoid medications multiple times daily to mimic the body's natural cortisol rhythm. Those with salt-wasting forms also take fludrocortisone to replace aldosterone and maintain proper sodium and potassium balance. Stress dosing with higher medication amounts is necessary during illness, injury, or surgery to prevent adrenal crisis, and regular blood tests monitor hormone levels to adjust treatment.

Question 10

How can I prevent congenital adrenal hyperplasia?

Accepted Answer

Congenital adrenal hyperplasia cannot be prevented because it is an inherited genetic condition present from birth. However, genetic counseling before pregnancy can help identify carrier status if you have a family history of CAH, allowing you to understand your risk of having an affected child. Newborn screening programs in all U.S. states detect CAH early so treatment can begin immediately, preventing serious complications. Prenatal diagnosis through chorionic villus sampling or amniocentesis can identify CAH before birth in high-risk pregnancies.

Question 11

What can I do at home to manage congenital adrenal hyperplasia?

Accepted Answer

Managing congenital adrenal hyperplasia at home requires taking all prescribed medications exactly as directed and never skipping doses, as this can trigger dangerous adrenal crises. Always carry an emergency injection kit of hydrocortisone and wear a medical alert bracelet identifying your condition. Increase your medication dose during illness, injury, or stress as instructed by your doctor, and add extra salt to your diet if you have the salt-wasting form. Keep detailed records of symptoms, stress levels, and medication doses to share with your healthcare provider for treatment optimization.

Question 12

How’s this work?

Accepted Answer

Getting your blood test with us is easy, private & backed by the power of science.Long story short:
            
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                When you’re ready, visit one of our 4,000 locations. Just bring your ID – no printing or faxing of your lab order is needed, as your order and details will already be in the lab system.
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Question 13

How do I know which test to get?

Accepted Answer

In the test options, find the test you want.
            If you’re not sure which test to get, we can lend a hand in finding the right option.
            Just text or call us at 754-799-7833, email us at support@privatemdlabs.com, and we'll gladly help you. We've got your back and reply quickly.

Question 14

When will my lab results be available?

Accepted Answer

Most test results will be available within 1–3 business days. Once they're ready, we'll send an email and text message to let you know.
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            If you have any further questions, please text us at 754-799-7833 or email support@privatemdlabs.com, and we'll gladly help you.

Question 15

Is it possible to make changes to my lab order if I made a mistake with the name, date of birth, or any other details?

Accepted Answer

Absolutely! We totally understand that errors can happen. No worries, we're here to help you.
            Just reach out to us via text at 754-799-7833 or shoot us an email at
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            There are no changes necessary if your address is wrong on the requisition though. We don’t mail anything out.
            Our lab requires an address to be listed to generate an order.

Question 16

Do you accept health insurance?

Accepted Answer

Only HSA & FSA is accepted.
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Question 17

Can I cancel my order?

Accepted Answer

Yes.
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            As long as your samples haven’t been collected yet, we’re happy to help you cancel your order.
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Question 18

How can I find a lab location near me?

Accepted Answer

During the ordering process, you’ll be able to select a specific lab near you, with no strings attached!
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            If you have any questions, please text us at 754-799-7833 or email support@privatemdlabs.com and we'll gladly help you.

Congenital Adrenal Hyperplasia Blood Test

What is Congenital adrenal hyperplasia?

What causes congenital adrenal hyperplasia?

What is the best test for congenital adrenal hyperplasia?

When should I get tested for congenital adrenal hyperplasia?

References

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