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  1. The AR protein (pictured) mediates the effects of androgens in the human body. 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 · 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 ...

  3. Summary. Androgen insensitivity syndrome (AIS) is a rare genetic disorder that affects the development of the male reproductive system in individuals with a 46,XY karyotype. In addition to physical impacts, patients with AIS may face psychological distress and social challenges related to gender identity and acceptance.

    • 10.5582/irdr.2023.01024
    • 2023/05
  4. Feb 28, 2023 · This activity reviews the evaluation and treatment of androgen insensitivity syndrome (AIS) and highlights the role of the interprofessional team in evaluating and treating patients with this condition.

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  6. 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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