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  1. Androgen insensitivity syndrome (AIS) is a condition involving the inability to respond to androgens, typically due to androgen receptor dysfunction. [ 1 ] It affects 1 in 20,000 to 64,000 XY ( karyotypically male) births.

    • What Is Androgen Insensitivity Syndrome?
    • Are There Different Types of Androgen Insensitivity Syndrome?
    • Who Gets Androgen Insensitivity Syndrome?
    • How Common Is Androgen Insensitivity Syndrome?

    Androgen insensitivity syndrome (AIS) occurs when someone is genetically male but is insensitive to androgens (male sex hormones). This means the person has male sex chromosomes (one X and one Y chromosome) but may have female genitals. AIS is a disorder of sex differentiation. It was previously called testicular feminization syndrome. It affects m...

    There are three types of AIS: 1. Complete androgen insensitivity syndrome (CAIS):A person’s external genital appears female. But they don’t have female sex organs (no ovaries, fallopian tubes or uterus). People with CAIS are often raised as girls. 2. Partial androgen insensitivity syndrome (PAIS):A person’s external genitals may appear partially (n...

    Males who inherit an abnormal gene, called the androgen receptor (AR) gene, from their mothers have a 1 in 4 chance of developing AIS. Females can also inherit and carry the gene, but they won’t develop AIS.

    Androgen insensitivity syndrome is rare. About 1 in 99,000 male infants are born with partial androgen insensitivity syndrome and 2 to 5 per 100,000 are born with complete androgen insensitivity syndrome.

  2. Oct 24, 2023 · Men with mild androgen insensitivity often develop normally in childhood and adolescence. However, they may experience gynecomastia —male breast growth. They may also have reduced fertility.

  3. Mar 15, 2021 · Androgen insensitivity syndrome (AIS) is an X-linked recessive genetic syndrome that occurs as result of an androgen receptor mutation; it affects the normal masculinization process in chromosomal male patients. More than 900 androgen receptor mutations that can lead to AIS have been identified.

    • 10.5114/aoms/125584
    • 2022
    • Arch Med Sci. 2022; 18(4): 881-889.
  4. Mar 23, 2018 · Androgenic insensitivity syndrome is the most common cause of disorders of sexual differentiation in 46,XY individuals. It results from alterations in the androgen receptor gene, leading to a frame of hormonal resistance, which may present clinically under 3 phenotypes: complete (CAIS), partial (PAIS) or mild (MAIS).

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  6. Feb 28, 2023 · Androgen insensitivity syndrome is the result of profound resistance of the androgen receptor towards the action of androgen. Various studies done in women established the androgen receptor (AR) dysfunction with no detectable androgen receptor binding, leading to resistance to the virilization effect of the exogenous androgen.