Partial androgen insensitivity syndrome (PAIS) is an X-linked recessive disorder caused by a mutation in the androgen receptor gene. The clinical features of PAIS vary depending on the severity of the mutation, but generally involve a combination of male and female physical characteristics.
The most common feature of PAIS is ambiguous genitalia at birth, which may present as a combination of male and female genitalia. In milder cases, the external genitalia may appear normal, but upon further examination, the presence of testes, uterus, or both may be discovered. Other physical features associated with PAIS include a lack of pubic hair, a partial or complete absence of the penis, an undersized penis, an enlarged clitoris, and/or undescended testes.
In addition to physical characteristics, individuals with PAIS may experience infertility due to impaired sperm production or low levels of androgens. They may also experience abnormal development of secondary sexual characteristics, such as a lack of beard growth in males, and an inability to menstruate in females.
Psychological and social implications of PAIS can vary depending on the individual and their level of comfort with their physical appearance. Individuals with PAIS may feel isolated due to the physical differences between themselves and their peers, which can lead to psychological distress. It is important for individuals affected by PAIS to receive appropriate psychological and social support to help them through this difficult time.