Androgen insensitivity syndrome (AIS) is a condition that affects sexual development in people with XY chromosomes (male chromosomes). People with AIS have some or all of the physical characteristics of females, despite having the male XY chromosomes.
What Causes Androgen Insensitivity Syndrome?
AIS is caused by mutations in a gene called the androgen receptor gene. This gene is responsible for the normal development of male reproductive organs and sexual characteristics. When the gene is mutated, it can cause AIS.
Who Can Get Androgen Insensitivity Syndrome?
AIS can occur in people of any gender or sex. AIS is most commonly found in people with XY chromosomes, but it can also occur in people with XX chromosomes (female chromosomes). It is estimated that 1 in 20,000 people have AIS.
What Are The Symptoms of Androgen Insensitivity Syndrome?
The symptoms of AIS vary depending on the severity of the mutation. Common symptoms include:
• Underdeveloped male reproductive organs
• Partial or complete lack of facial and body hair
• Infertility
• Female-appearing external genitalia
• Delayed or incomplete puberty
• Abnormal breast development
• Atypical body proportions
• Short stature
• Weak bones
• Reduced muscle strength
• Abnormal body fat distribution
• Atypical sex hormones
• Low libido
• Increased risk of infertility
How Is Androgen Insensitivity Syndrome Diagnosed?
AIS is typically diagnosed during childhood, when symptoms begin to appear. Diagnosis usually involves a physical examination, blood tests, and genetic testing.
How Is Androgen Insensitivity Syndrome Treated?
Treatment for AIS depends on the severity of the condition. Treatment may include hormone therapy, surgery, and psychological support.