Mild androgen insensitivity syndrome (MAIS) is a genetic condition caused by a genetic mutation in the androgen receptor gene. This mutation results in a partial or complete lack of response to androgens, the male sex hormones. People with MAIS may have a variety of signs and symptoms including abnormal or incomplete physical development, infertility, and lack of sexual characteristics.
MAIS is caused by a change in the androgen receptor gene, which is responsible for controlling the body’s response to androgens. This change may be inherited from a parent or may be a spontaneous mutation. In some cases, the mutation may be so mild that it is not detected until later in life.
The signs and symptoms of MAIS vary widely depending on the degree of androgen resistance. Individuals with mild androgen insensitivity may have normal male genitalia, normal secondary sexual characteristics, and normal fertility. However, they may have incomplete physical development, such as underdeveloped muscles or a small penis. They may also experience delayed puberty or have difficulty producing normal sperm.
In more severe cases, individuals with MAIS may have ambiguous genitalia, incomplete development of secondary sexual characteristics, and infertility. Treatment for MAIS typically involves hormone replacement therapy and counseling to help individuals cope with the physical and emotional effects of the condition. In some cases, surgery may be necessary to correct the physical abnormalities caused by MAIS.
MAIS is a rare condition, but it is important to be aware of the signs and symptoms so that individuals can seek prompt treatment. Early diagnosis and treatment can help improve life expectancy and quality of life for individuals with MAIS.