Question 1

What is Androgen Insensitivity Syndrome?

Accepted Answer

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.

Question 2

What causes Androgen Insensitivity Syndrome?

Accepted Answer

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.

Question 3

What is the best test for Androgen Insensitivity Syndrome?

Accepted Answer

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.

Question 4

When should I get tested for Androgen Insensitivity Syndrome?

Accepted Answer

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.

Question 5

What are the symptoms of Androgen Insensitivity Syndrome?

Accepted Answer

The symptoms of Androgen Insensitivity Syndrome vary depending on whether you have complete or partial AIS. In complete AIS, individuals with XY chromosomes have completely female external genitals, develop breasts at puberty, but never menstruate and have little or no pubic and underarm hair. In partial AIS, symptoms range from ambiguous genitals at birth to slightly underdeveloped male characteristics, such as a smaller penis, undescended testes, or reduced facial and body hair. Some individuals with mild AIS may appear fully male but experience infertility or breast development during puberty.

Question 6

Who is at risk for Androgen Insensitivity Syndrome?

Accepted Answer

Androgen Insensitivity Syndrome affects individuals with XY chromosomes who inherit a mutated AR gene from their mother. Since the AR gene is located on the X chromosome, mothers who carry the mutation have a 50% chance of passing it to their XY children. The condition occurs in approximately 1 in 20,000 to 64,000 genetically male births. Families with a history of AIS, unexplained infertility in males, or women with absent periods and no uterus have higher risk and should consider genetic counseling and testing.

Question 7

What happens if Androgen Insensitivity Syndrome is left untreated?

Accepted Answer

If Androgen Insensitivity Syndrome is left untreated or undiagnosed, individuals face several serious health risks. Undescended testes that remain in the abdomen have a 3-5% risk of developing testicular cancer, particularly after puberty, so surgical removal is often recommended. Without diagnosis, individuals may experience psychological distress from unexpected physical development, infertility issues without understanding why, and delayed treatment for gender identity concerns. Additionally, without proper hormone replacement therapy after testes removal, individuals can develop osteoporosis and other complications from hormone deficiency. Early diagnosis allows for proper cancer screening, psychological support, and informed decisions about gender identity and medical management.

Question 8

Can Androgen Insensitivity Syndrome be diagnosed with a blood test?

Accepted Answer

Androgen Insensitivity Syndrome can be strongly suspected through blood tests that measure testosterone and DHT levels, but definitive diagnosis requires genetic testing. Blood tests showing normal or elevated testosterone and DHT levels in an individual with female or ambiguous physical characteristics provide crucial diagnostic evidence of androgen resistance. However, genetic testing of the AR gene is necessary to confirm the specific mutation causing the androgen receptor malfunction. Blood tests are the essential first step that reveal the hormonal paradox characteristic of AIS and guide further genetic evaluation for complete diagnosis.

Question 9

How is Androgen Insensitivity Syndrome treated?

Accepted Answer

Androgen Insensitivity Syndrome is treated through a multidisciplinary approach that includes hormone therapy, surgical interventions, and psychological support. For individuals with complete AIS raised as females, treatment often involves surgical removal of undescended testes after puberty to prevent cancer risk, followed by estrogen replacement therapy to maintain bone health and female characteristics. For partial AIS, treatment is individualized based on the degree of androgen sensitivity and the individual's gender identity, which may include hormone supplementation, genital reconstruction surgery, or fertility preservation options. Psychological counseling and support groups help individuals and families navigate the complex medical and emotional aspects of living with AIS.

Question 10

How can I prevent Androgen Insensitivity Syndrome?

Accepted Answer

Androgen Insensitivity Syndrome cannot be prevented because it is an inherited genetic condition caused by mutations in the AR gene. However, families with a history of AIS can benefit from genetic counseling before having children to understand their risk of passing the mutation to offspring. Prenatal genetic testing through amniocentesis or chorionic villus sampling can detect AR gene mutations in developing fetuses if parents are known carriers. While prevention is not possible, early diagnosis through newborn screening or testing in childhood allows for better medical management, cancer prevention through testes removal, appropriate hormone therapy, and psychological support to improve quality of life for affected individuals.

Question 11

What can I do at home for Androgen Insensitivity Syndrome?

Accepted Answer

At home, individuals with Androgen Insensitivity Syndrome can focus on overall health through balanced nutrition rich in calcium and vitamin D to support bone health, especially after testes removal and during hormone therapy. Regular weight-bearing exercise helps maintain bone density and reduces osteoporosis risk. Connecting with AIS support groups and online communities provides emotional support and practical advice from others with similar experiences. Keeping detailed medical records, tracking hormone replacement therapy schedules, and maintaining open communication with your healthcare team ensures comprehensive care. While medical treatment is essential, creating a supportive home environment that validates gender identity and provides education about the condition helps individuals with AIS thrive emotionally and physically.

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

During the ordering process, you’ll be able to select a specific lab near you, with no strings attached!
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Androgen Insensitivity Syndrome Blood Test

What is Androgen Insensitivity Syndrome?

What causes Androgen Insensitivity Syndrome?

What is the best test for Androgen Insensitivity Syndrome?

When should I get tested for Androgen Insensitivity Syndrome?

References

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