Androgen Insensitivity Syndrome (AIS) is a rare genetic disorder where individuals with XY chromosomes are resistant to male hormones despite having normal or elevated testosterone levels. It is caused by mutations in the androgen receptor gene that prevent cells from responding to testosterone and dihydrotestosterone (DHT). The Testosterone, Free and Total, LC/MS/MS test is the most important test for diagnosis because it reveals the characteristic pattern of normal or high testosterone in individuals with female physical characteristics.
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Androgen Insensitivity Syndrome is caused by mutations in the AR gene located on the X chromosome that provides instructions for making androgen receptors. These receptors allow cells to respond to testosterone and dihydrotestosterone (DHT), which are essential for male sexual development. When the AR gene is mutated, cells cannot detect or respond to these male hormones, even when they are present at normal or elevated levels in the bloodstream, resulting in the development of female or ambiguous physical characteristics in individuals with XY chromosomes.
The Testosterone, Free and Total, LC/MS/MS test is the most important test for Androgen Insensitivity Syndrome because it measures both free and total testosterone levels, revealing the characteristic pattern of normal or elevated male hormones in individuals with female physical traits. This comprehensive hormone panel helps identify the paradox that defines AIS: high testosterone that the body cannot use. The Dihydrotestosterone (DHT) LC/MS/MS test is also essential because DHT is the most potent androgen for male development, and normal DHT levels combined with female characteristics strongly suggest androgen resistance. These blood tests, combined with genetic testing of the AR gene, provide the complete diagnostic picture for AIS.
You should get tested if you are a genetically male individual (XY chromosomes) with female physical characteristics, underdeveloped male genitals, or if you have not started puberty as expected. Testing is also important if you are a young woman who has not started menstruating by age 16, have normal breast development but no periods, or discover you have testes instead of ovaries during medical imaging. Additionally, if you have a family history of AIS or androgen receptor gene mutations, early testing can help with diagnosis and appropriate medical planning for sexual development and fertility concerns.
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What this means
Your testosterone level is slightly below the optimal range. While not severely low, this may contribute to occasional fatigue, reduced motivation, difficulty building muscle, or lower sex drive. Many men in this range benefit from lifestyle modifications to naturally boost their levels.
Recommended actions
Increase resistance training and compound exercises like squats and deadlifts
Prioritize 7-8 hours of quality sleep per night and manage stress levels
Include zinc and magnesium-rich foods like shellfish, beef, pumpkin seeds, and spinach
Consider retesting in 3-6 months after implementing lifestyle changes
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