Advertisement

How is androgen insensitivity syndrome diagnosed?

Androgen insensitivity syndrome may be diagnosed using several tests. Diagnosis usually begins with a blood test to check levels of certain hormones. Genetic testing may also be done. In some cases, an ultrasound of the pelvis may be performed to look for internal testes. Complete androgen insensitivity syndrome usually isn't diagnosed till puberty because it often doesn't cause any noticeable symptoms till then. In partial androgen insensitivity syndrome, the physical symptoms (ambiguous genitals, or both female and male physical characteristics) will be visible very early on. In those cases, doctors will perform tests early in childhood.

Continue Learning about Metabolic Disorders

Treatment for Porphyria
Treatment for Porphyria
Porphyrias are rare metabolic disorders that impact the body’s ability to produce heme. Heme is a natural compound needed to make red blood cells, tra...
Read More
Do You Have Porphyria? Know the Symptoms
Do You Have Porphyria? Know the Symptoms
Porphyrias are a group of rare metabolic disorders that can cause a wide range of symptoms, ranging from severe blistering when exposed to sunlight, t...
Read More
What is amyloidosis?
Penn MedicinePenn Medicine
Amyloidosis is a rare and potentially life threatening disease which occurs when toxic amyloid prote...
More Answers
What are the treatment options for amyloidosis?
Penn MedicinePenn Medicine
As amyloidosis is both rare and complex, seeking a proper diagnosis is important, and may require se...
More Answers

Important: This content reflects information from various individuals and organizations and may offer alternative or opposing points of view. It should not be used for medical advice, diagnosis or treatment. As always, you should consult with your healthcare provider about your specific health needs.