AIS

AIS or Androgen Insensitivity Syndrome is a condition that affects sexual development before birth and during puberty. People with this condition are genetically male, with one X and one Y chromosome in each cell, because they have male gonads, either testes or ovaries. However, they typically have female external genitalia that appear normal, although they can range from typical male to typical female. The condition is categorized into three types: complete, partial, and mild.

Etymology

The term "Androgen Insensitivity Syndrome" is derived from the Greek words "andro" meaning male, "gen" meaning producing, "insensitivity" meaning lack of response, and "syndrome" indicating a group of symptoms that consistently occur together.

Types of AIS

Complete Androgen Insensitivity Syndrome (CAIS)

Individuals with CAIS have the physical traits of women, but do not have a uterus and therefore do not menstruate and are unable to conceive a child (infertile). They are typically raised as females and have a female gender identity.

Partial Androgen Insensitivity Syndrome (PAIS)

PAIS results in genital ambiguity, with a continuum of phenotypes ranging from a nearly typical male appearance to a nearly typical female appearance. Individuals with PAIS may be raised as males or females, and may have a male or female gender identity.

Mild Androgen Insensitivity Syndrome (MAIS)

MAIS is the least understood form of AIS. Individuals with this form of the condition have male physical traits, but may experience impotence, infertility, and breast enlargement.

Causes

AIS is caused by mutations in the AR gene, which provides instructions for making a protein called an androgen receptor. Androgens (male hormones) control the development of male traits by binding to androgen receptors. Mutations in the AR gene prevent androgen receptors from working properly, which makes cells less responsive to androgens or prevents cells from using these hormones at all. As a result, male sexual development does not occur as expected.

Treatment

Treatment for AIS may include hormone replacement therapy and psychological support. Surgery may be performed to correct undescended testes or ambiguous genitalia, but this is a controversial issue.

See also

• Intersex
• Sexual differentiation
• 5-alpha-reductase deficiency
• Gonadal dysgenesis

References

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