Androgen insensitivity syndrome Save
ICD-10 code: E34.5
Chapter: Endocrine, nutritional and metabolic diseases
Understanding Androgen Insensitivity Syndrome
Androgen Insensitivity Syndrome (AIS) is a rare genetic disorder that affects the development of sexual characteristics in people with XY chromosomes. People with AIS have a mutation in the androgen receptor gene, which prevents the body from responding to male sex hormones called androgens.
AIS is a spectrum disorder, meaning that symptoms can vary widely depending on the severity of the mutation. Some people with AIS have a complete inability to respond to androgens, while others have a partial response. As a result, people with AIS can have a range of physical characteristics, including ambiguous genitalia, less body hair, and breast development.
Symptoms of Androgen Insensitivity Syndrome
The symptoms of AIS can be difficult to detect, as some people with the disorder may appear to have typical female characteristics. However, there are some signs that may indicate AIS, including:
- Absence of menstruation
- Undescended testes
- Less body hair than expected for a male
- Underdeveloped or absent male genitalia
- Feminine body shape
If you or someone you know is experiencing these symptoms, it is important to seek medical attention as soon as possible. A doctor can perform a physical exam and genetic testing to diagnose AIS.
Treatment for Androgen Insensitivity Syndrome
There is no cure for AIS, but there are treatments available to manage symptoms and improve quality of life. Hormone replacement therapy can be used to promote breast development and prevent osteoporosis. Surgery may also be an option to reconstruct genitalia for people with incomplete AIS.
It is important for people with AIS to receive appropriate medical care and support, as the condition can have significant psychological and social impacts. Counseling and support groups can be helpful for people with AIS and their families.
Conclusion
Androgen Insensitivity Syndrome is a rare genetic disorder that affects sexual development. Although there is no cure, there are treatments available to manage symptoms and improve quality of life. If you or someone you know is experiencing symptoms of AIS, it is important to seek medical attention and support.