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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.
Androgen insensitivity syndrome is a genetic disorder, in which a person with an XY genotype - genetically a male – is “insensitive” or doesn’t respond to androgens, which are male sex hormones.
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Androgen insensitivity syndrome (AIS) affects the development of a person's genitals and reproductive organs. The 2 types of AIS are called complete androgen insensitivity syndrome (CAIS) and partial androgen insensitivity syndrome (PAIS). The genitals of a person with CAIS appear female.
- 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.
Jan 27, 2021 · Abstract. Complete androgen insensitivity syndrome (CAIS) is due to complete resistance to the action of androgens, determining a female phenotype in persons with a 46,XY karyotype and functioning testes. CAIS is caused by inactivating mutations in the androgen receptor gene (AR).
- Nina Tyutyusheva, Ilaria Mancini, Giampiero Igli Baroncelli, Sofia D'Elios, Diego Peroni, Maria Cris...
- 10.3390/ijms22031264
- 2021
- Int J Mol Sci. 2021 Feb; 22(3): 1264.
Jan 16, 2023 · Androgen insensitivity syndrome, or AIS, is a variation of sex development that causes intersex traits in males. AIS can cause changes in the way a person’s external genitals appear, as well...
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What is androgen insensitivity syndrome (AIS)?
3 days ago · Androgen insensitivity syndrome (AIS), formerly known as testicular feminization, is an X-linked recessive condition resulting in a failure of normal masculinization of the external genitalia...
