How is Androgen Insensitivity Syndrome diagnosed?
See how Androgen Insensitivity Syndrome is diagnosed. Which specialists are essential to meet, what tests are needed and other useful information for the diagnosis of Androgen Insensitivity Syndrome
Androgen Insensitivity Syndrome (AIS) is a genetic condition that affects sexual development in individuals with XY chromosomes. It is characterized by the body's inability to respond to male sex hormones called androgens. AIS is typically diagnosed through a combination of medical history, physical examination, hormone testing, and genetic testing.
Medical history: The first step in diagnosing AIS involves gathering a detailed medical history of the individual. This includes information about their sexual development, any previous surgeries or medical interventions, and any symptoms or concerns they may have.
Physical examination: A physical examination is conducted to assess the individual's external genitalia and secondary sexual characteristics. In individuals with AIS, the external genitalia may appear female or ambiguous, despite having XY chromosomes. The presence of undescended testes or absence of a uterus and ovaries may also be observed.
Hormone testing: Hormone testing is crucial in diagnosing AIS. Blood tests are performed to measure the levels of various hormones, including testosterone, luteinizing hormone (LH), follicle-stimulating hormone (FSH), and anti-Müllerian hormone (AMH). In individuals with AIS, testosterone levels are typically elevated, while LH and FSH levels may be within the normal range. AMH levels are usually low or undetectable.
Genetic testing: Genetic testing is the definitive method for diagnosing AIS. It involves analyzing the individual's DNA to identify any mutations or alterations in the androgen receptor gene (AR gene). The AR gene is responsible for producing the androgen receptor protein, which is essential for the body's response to androgens. Mutations in this gene can lead to AIS. Genetic testing can be done through a blood sample or buccal swab.
Karyotype analysis: In addition to genetic testing, a karyotype analysis may be performed to examine the individual's chromosomes. This helps confirm the presence of XY chromosomes, which is a characteristic feature of AIS.
Additional tests: Depending on the specific presentation and symptoms, additional tests may be conducted to evaluate the individual's overall health and assess any associated conditions. These may include imaging studies, bone density scans, and hormone stimulation tests.
It is important to note that the diagnosis of AIS requires a multidisciplinary approach involving endocrinologists, geneticists, and other healthcare professionals. The process may vary depending on the individual's age, symptoms, and available resources. A timely and accurate diagnosis of AIS is crucial for appropriate management and support.
