An androgen insensitivity syndrome affects sexual development before and during puberty and is a rare genetic condition. It is caused by the fact that people with AIS have male sex chromosomes (XY), but their bodies do not respond properly to androgens (male sex hormones). This may result in external genitals with female or ambiguous characteristics, or male genitals with reduced fertility.
On the X chromosome, the androgen receptor (AR) gene is mutated to cause AIS. When the AR gene is mutated, the protein does not function correctly or is not produced at all, allowing androgens to exert their effects on the body. AIS is caused by mutations in the AR gene. As a result, the body cannot respond to androgens, which are essential for the development of male sexual characteristics.
AIS is inherited from the mother, who is typically a carrier of the mutation. A carrier mother is 50% likely to pass along the mutated gene to each of her children if she has one normal copy of the AR gene and one mutated copy of the AR gene. If a child inherits the mutated gene, the severity of AIS depends on the type and location of the mutation, in addition to other genetic and environmental factors.
There are three main types of AIS: complete, partial, and mild. The type and symptoms of AIS depend on how much the body can respond to androgens.
It is characterized by female external genitals and shallow vaginal walls, no uterus, fallopian tubes, or ovaries, but undescended testes within their abdomen or groin. Infertile and at increased risk of developing testicular cancer, they are usually raised as girls and identify as female. During puberty, they don't experience periods or puberty-related changes, such as breast development or pubic hair growth.
The external genitals of individuals with PAIS are either unclear male or female or partially developed male genitals. They may have a small penis, a large clitoris, a urethra that opens on the underside of the penis or clitoris, or a combination of these features. They may also have a vagina, a scrotum, or both. The testes may be undescended or partially descended, or the reproductive organs may be normal or abnormal. They may be raised as boys or girls, depending on the appearance of their genitals and their gender identity. According to their hormone levels, they may undergo puberty-related changes, such as voice deepening or breast development. They may have reduced fertility or be infertile.
There is a possibility that people with mild androgen insensitivity syndrome (MAIS) will have normal male external genitals, but may have small testes and a low sperm count. They are usually raised as boys and identify as male. As a result of their hormone levels, they may experience normal or delayed puberty. Fertility may be normal or diminished.
It is usually diagnosed at birth, during puberty, or when trying to conceive. A physical examination of the genitals, blood hormone levels, AR gene testing, and imaging tests of the reproductive organs are used to make the diagnosis.
The treatment of AIS depends on the type and severity of the condition, the age and gender identity of the person, and their personal preferences. The treatment options may include:
An operation aimed at removing, relocating, or reconstructing genital or internal reproductive organs. As well as preventing or treating testicular cancer, which is more common in people with AIS, surgery may also be performed in childhood, adulthood, or infancy, depending on the patient's medical and psychological needs.
Induce or maintain puberty, prevent osteoporosis, or improve sexual function and well-being with hormone therapy.
A person with AIS may benefit from psychological counseling to cope with the emotional and social aspects of living with AIS. This may include providing information and support, addressing issues of gender identity and sexual orientation, and facilitating communication with family and friends.
AIS cannot be prevented, as it is a genetic condition that is present from birth. However, genetic counseling may be offered to people with AIS and their families to help them understand inheritance and its implications. For pregnant women carrying the AR gene mutation, prenatal testing is also possible.
Based on the severity and type of the condition, the treatment received, and personal and social factors involved, people with AIS have varying outlooks. In addition to having satisfying sexual and romantic relationships, with or without biological children, individuals with AIS can live healthy and fulfilling lives as long as they receive appropriate medical care and psychological support.
