Understanding Lab Tests for Congenital Adrenal Hyperplasia
Written by Private MD Labs Medical Writing Team • Last Updated: September 8, 2025
Congenital adrenal hyperplasia (CAH) is a group of inherited disorders that affect the adrenal glands' ability to produce certain hormones. This condition disrupts normal hormone production, leading to abnormal levels of various hormones including androgens and estrogens. Blood tests measuring specific hormone levels are essential for diagnosing CAH.
Top Recommended Test
Testosterone, Free, Bioavailable and Total, LC/MS/MS
This comprehensive testosterone test measures all forms of testosterone in the blood. High levels of free testosterone can indicate congenital adrenal hyperplasia, as the enzyme deficiencies characteristic of CAH often lead to excessive androgen production. This test provides precise measurements using advanced LC/MS/MS technology for accurate diagnosis.
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Diagnosing Congenital Adrenal Hyperplasia
CAH is diagnosed through blood tests that measure hormone levels. Due to enzyme deficiencies in the adrenal glands, individuals with CAH typically have elevated levels of certain hormones as the body attempts to compensate for the blocked hormone production pathways. Early and accurate diagnosis is crucial for proper treatment and management.
Other Relevant Tests
Estrone, LC/MS/MS
This test measures estrone levels in the blood using sensitive LC/MS/MS methodology. Congenital adrenal hyperplasia can result in elevated levels of estrone due to the disrupted hormone production pathways in the adrenal glands. Abnormal estrone levels can help confirm the diagnosis of this inherited disorder.
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Understanding Your Results
Elevated hormone levels, particularly testosterone and estrone, may indicate CAH. However, hormone levels can be affected by various factors including age, sex, medications, and other medical conditions. A healthcare provider will interpret your results in the context of your symptoms, family history, and other clinical findings.
Important Considerations
The information here is for educational purposes only and is not a substitute for professional medical advice. Always consult with a healthcare provider for diagnosis and treatment. CAH requires specialized medical management and ongoing monitoring.
