Understanding Lab Tests for Androgen Insensitivity Syndrome
Written by Private MD Labs Medical Writing Team • Last Updated: September 8, 2025
Androgen Insensitivity Syndrome (AIS) is a rare genetic disorder where individuals with male chromosomes (XY) are resistant to the effects of male hormones (androgens), despite having normal or even elevated hormone levels. This condition affects sexual development and can result in varying degrees of female physical characteristics in genetically male individuals.
Top Recommended Test
Testosterone, Total, Male, IA (MALES ONLY)
This test measures total testosterone levels in genetically male individuals. In AIS, testosterone levels are typically normal or even elevated, but the body cannot respond to the hormone properly due to genetic resistance, leading to female physical traits despite male genetics.
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Role of Blood Testing in Diagnosing AIS
While the definitive diagnosis of AIS requires genetic testing and clinical evaluation, blood tests measuring androgen levels are fundamental for the diagnostic process. These tests help identify the characteristic pattern of normal or elevated male hormones in individuals who show resistance to their effects, providing crucial evidence to support the diagnosis.
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Testosterone Total LC/MS/MS
This highly accurate test uses advanced LC/MS/MS technology to measure testosterone levels. It helps identify the characteristic pattern in AIS where testosterone levels may be normal or elevated, but the body's resistance prevents proper hormonal response and normal male sexual development.
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Testosterone, Free and Total, LC/MS/MS
This comprehensive test measures both free and total testosterone levels, providing a complete picture of androgen status. High levels of free testosterone combined with female physical characteristics or underdeveloped male traits can be a strong indicator of AIS.
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Dihydrotestosterone, (DHT) LC/MS/MS
DHT is a potent androgen crucial for male sexual development. This test measures DHT levels, which may be normal in AIS patients, but the body's inability to respond to this hormone leads to various developmental issues, from underdeveloped male genitals to complete female physical appearance despite male genetics.
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Understanding Test Results in AIS
In Androgen Insensitivity Syndrome, the key diagnostic finding is the paradox of normal or elevated androgen levels (testosterone and DHT) in individuals who display female physical characteristics or incomplete male sexual development. This pattern suggests that while the hormones are being produced normally, the body's cells cannot respond to them due to genetic mutations affecting androgen receptors.
Important Considerations
The information here is for educational purposes only and is not a substitute for professional medical advice. AIS diagnosis requires comprehensive evaluation including genetic testing, clinical assessment, and hormone testing. Always consult with a healthcare provider or genetic counselor for proper diagnosis and treatment planning.
