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  1. In men, disease states are associated with extremes in polyglutamine tract length; prostate cancer, hepatocellular carcinoma, and intellectual disability are associated with too few repetitions, while spinal and bulbar muscular atrophy (SBMA) is associated with a CAG repetition length of 40 or more.

    • 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. Male pseudohermaphrodites are persons with a Y-chromosome whose external genitalia fail to develop as expected for normal males. Causes of male pseudohermaphroditism include cytogenetic abnormalities, teratogenic causes, defects in testosterone biosynthesis, and defects in androgen action.

  3. Jul 1, 2003 · Androgen insensitivity syndrome (AIS) is caused by mutations in the androgen receptor gene and is associated with a variety of phenotypes in 46,XY individuals, ranging from phenotypic women [complete form (CAIS)] to men with minor degrees of undervirilization or infertility [partial form (PAIS)].

    • Karla F. S. Melo, Berenice B. Mendonca, Ana Elisa C. Billerbeck, Elaine M. F. Costa, Marlene Inácio,...
    • 2003
  4. Oct 24, 2023 · Androgen insensitivity is an umbrella term for a number of genetic conditions where the body does not respond appropriately to testosterone and other androgens. There are multiple causes of androgen insensitivity syndromes (AIS). However, these conditions can broadly be divided into partial androgen insensitivity syndromes (PAIS) and complete ...

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  6. Because their bodies are unable to respond to certain male sex hormones (called androgens), they may have some physical traits of a woman. Androgen insensitivity syndrome is caused by genetic changes in the AR gene and is inherited in an X-linked recessive pattern.