Understanding Lab Tests for Congenital Adrenal Hyperplasia (CAH)
Written by Private MD Labs Medical Writing Team • Last Updated: September 8, 2025
Congenital Adrenal Hyperplasia (CAH) is a group of inherited genetic disorders that affect the adrenal glands' ability to produce certain hormones properly. These conditions can lead to an overproduction of androgens (male hormones) and a deficiency in cortisol and sometimes aldosterone. Early diagnosis through specialized blood tests is crucial for proper management and treatment.
Top Recommended Test
Dehydroepiandrosterone (DHEA-s) Sulfate
This test measures DHEA-S levels in the blood. In CAH, the adrenal glands often overproduce this hormone due to enzyme deficiencies that prevent normal cortisol production. Elevated DHEA-S levels can be a key indicator of CAH, particularly in diagnosing and monitoring the condition's severity.
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How Blood Tests Diagnose CAH
CAH is diagnosed through specific hormone blood tests that measure the levels of various adrenal hormones and their precursors. Because the adrenal glands cannot properly convert certain hormones due to enzyme deficiencies, characteristic patterns of elevated and decreased hormone levels can be detected in the blood, allowing for accurate diagnosis of this genetic condition.
Other Relevant Tests
DHEA (Dehydroepiandrosterone), Unconjugated, LC/MS/MS
This highly sensitive test measures unconjugated DHEA levels using advanced laboratory techniques. In severe forms of CAH, the body typically overproduces DHEA along with other androgens due to impaired cortisol synthesis. Elevated DHEA levels provide crucial diagnostic information for confirming CAH and assessing treatment effectiveness.
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Understanding Your Results
Elevated levels of DHEA and DHEA-S often indicate that the adrenal glands are overproducing these hormones, which is characteristic of CAH. However, interpretation of results should always be done in conjunction with clinical symptoms and family history. Additional testing may be recommended based on initial results.
Important Considerations
The information here is for educational purposes only and is not a substitute for professional medical advice. CAH requires specialized medical management, and treatment decisions should always be made in consultation with an endocrinologist or other qualified healthcare provider.
