Question 1

What is Congenital Adrenal Hyperplasia (CAH)?

Accepted Answer

Congenital Adrenal Hyperplasia (CAH) is a group of inherited genetic disorders affecting the adrenal glands ability to produce cortisol and aldosterone hormones. It is caused by enzyme deficiencies, most commonly 21-hydroxylase deficiency, leading to excess androgen production including DHEA and DHEA-S. The DHEA-S Sulfate blood test is the most important test for diagnosis because it detects elevated androgen levels characteristic of CAH.

Question 2

What causes Congenital Adrenal Hyperplasia?

Accepted Answer

Congenital Adrenal Hyperplasia is caused by inherited genetic mutations affecting enzymes in the adrenal glands, with 21-hydroxylase deficiency accounting for about 90-95% of cases. These enzyme deficiencies prevent the adrenal glands from converting cholesterol into cortisol and sometimes aldosterone, causing hormone precursors to accumulate and divert into androgen production pathways. The result is dangerously low cortisol levels combined with excess androgens like DHEA, DHEA-S, and testosterone, which can cause ambiguous genitalia in newborn girls and early puberty in children.

Question 3

What is the best test for Congenital Adrenal Hyperplasia?

Accepted Answer

The DHEA-S Sulfate test is the most important test for Congenital Adrenal Hyperplasia because it detects elevated androgen levels that result from enzyme deficiencies blocking normal cortisol production. In CAH, the adrenal glands overproduce DHEA-S as hormone precursors are diverted away from cortisol synthesis, making this test a key diagnostic indicator. The DHEA Unconjugated test using LC/MS/MS provides additional confirmation by measuring free DHEA levels with advanced laboratory precision, which is particularly valuable for assessing severe forms of CAH and monitoring treatment response. Together, these tests reveal the characteristic hormone imbalances that define this genetic condition.

Question 4

When should I get tested for Congenital Adrenal Hyperplasia?

Accepted Answer

You should get tested if you have a family history of CAH, experienced ambiguous genitalia at birth, or notice symptoms like early puberty in children, excessive body hair growth, severe acne, irregular menstrual periods in women, or infertility. Adults with unexplained fatigue, low blood pressure, salt cravings, or darkening skin should also consider testing, as these may indicate cortisol deficiency. Testing is particularly urgent for newborns with salt-wasting symptoms like vomiting, dehydration, or failure to thrive, as untreated CAH can be life-threatening in infancy.

Question 5

What are the symptoms of Congenital Adrenal Hyperplasia?

Accepted Answer

Symptoms vary by severity and age of onset, ranging from ambiguous genitalia in newborn girls to early development of pubic hair and rapid growth in young children. Classic CAH causes salt-wasting with vomiting, dehydration, low blood pressure, and potentially fatal adrenal crisis in newborns. Non-classic or late-onset CAH presents in adolescence or adulthood with irregular periods, infertility, severe acne, excessive facial or body hair, and male-pattern baldness in women. Both forms can cause chronic fatigue, muscle weakness, and hyperpigmentation due to cortisol deficiency.

Question 6

Who is at risk for Congenital Adrenal Hyperplasia?

Accepted Answer

CAH risk is highest in individuals with a family history of the disorder, as it follows an autosomal recessive inheritance pattern requiring two copies of the mutated gene. Certain ethnic groups have higher carrier rates, including Ashkenazi Jews, Hispanic populations, Italians, and people from the former Yugoslavia. If both parents are carriers, each child has a 25% chance of having CAH and a 50% chance of being a carrier. Newborn screening programs in most states detect classic CAH at birth, but non-classic forms may go undiagnosed until adolescence or adulthood.

Question 7

What happens if Congenital Adrenal Hyperplasia is left untreated?

Accepted Answer

Untreated classic CAH can cause life-threatening adrenal crisis in infancy, with severe dehydration, electrolyte imbalances, shock, and death occurring within weeks of birth. Children with unmanaged CAH experience premature puberty, accelerated bone age leading to short adult height, and psychosocial challenges from virilization. Long-term complications include infertility, osteoporosis from chronic cortisol deficiency, cardiovascular disease, metabolic syndrome, and increased risk of adrenal tumors. Women with untreated non-classic CAH often struggle with polycystic ovary-like symptoms, menstrual irregularities, and difficulty conceiving, significantly impacting quality of life.

Question 8

Can Congenital Adrenal Hyperplasia be diagnosed with a blood test?

Accepted Answer

Yes, CAH is primarily diagnosed through blood tests measuring adrenal hormones and their precursors, with elevated DHEA-S and DHEA levels being key diagnostic markers. A 17-hydroxyprogesterone test is typically the first screening test, as this hormone precursor accumulates when 21-hydroxylase enzyme is deficient. ACTH stimulation testing may be performed to confirm diagnosis by measuring how hormone levels respond to synthetic ACTH administration. Genetic testing can identify specific mutations and is particularly useful for carrier screening, prenatal diagnosis, and differentiating CAH types when hormone results are ambiguous.

Question 9

How is Congenital Adrenal Hyperplasia treated?

Accepted Answer

CAH is treated with lifelong hormone replacement therapy, primarily using hydrocortisone or other glucocorticoids to replace missing cortisol and suppress excess androgen production. Patients with salt-wasting CAH also require fludrocortisone to replace aldosterone and maintain proper sodium and potassium balance. Stress dosing with increased glucocorticoid amounts is critical during illness, injury, or surgery to prevent adrenal crisis. Some females born with virilized genitalia may undergo reconstructive surgery, while regular monitoring of hormone levels, growth, bone age, and blood pressure ensures optimal treatment adjustment throughout life.

Question 10

How can I prevent Congenital Adrenal Hyperplasia?

Accepted Answer

CAH cannot be prevented as it is an inherited genetic condition, but genetic counseling and carrier screening help families understand their risk before conception. If both parents are known carriers, prenatal diagnosis through chorionic villus sampling or amniocentesis with genetic testing allows early detection. Experimental prenatal dexamethasone treatment started in the first trimester may reduce genital virilization in affected female fetuses, though this remains controversial due to potential side effects. Preimplantation genetic diagnosis during in vitro fertilization allows selection of embryos without CAH mutations, offering carrier couples an option to have unaffected children.

Question 11

What can I do at home to manage Congenital Adrenal Hyperplasia?

Accepted Answer

At home, wear a medical alert bracelet indicating CAH and cortisol dependency, and keep an emergency injection kit of hydrocortisone or dexamethasone for adrenal crisis situations. Maintain consistent medication schedules, increase cortisol doses during illness or stress as directed by your doctor, and monitor for signs of adrenal insufficiency like persistent fatigue, nausea, or dizziness. Adequate salt intake is important for those with salt-wasting CAH, while stress management techniques like meditation and regular sleep patterns help minimize cortisol demands. Keep regular follow-up appointments to monitor hormone levels and adjust treatment, as proper management prevents complications and supports normal growth and development.

Question 12

How’s this work?

Accepted Answer

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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.
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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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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.
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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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Question 18

How can I find a lab location near me?

Accepted Answer

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Congenital Adrenal Hyperplasia Blood Test

What is Congenital Adrenal Hyperplasia (CAH)?

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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