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Friday, December 27, 2013

Androgen insensitivity syndrome

"Androgen insensitivity syndrome
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Androgen insensitivity syndrome (AIS) is when a person who is genetically male (who has one X and one Y chromosome) is resistant to male hormones (called androgens). As a result, the person has some or all of the physical traits of a woman, but the genetic makeup of a man....

Causes

Androgen insensitivity syndrome (AIS) is caused by genetic defects on the X chromosome. These defects make the body unable to respond to the hormones that produce a male appearance.

The syndrome is divided into two main categories:

    Complete AIS
    Incomplete AIS

Complete androgen insensitivity prevents the penis and other male body parts from developing. At birth, the child looks like a girl. The complete form of the syndrome occurs in as many as 1 in 20,000 live births.

How many male traits people have differ in incomplete AIS.

Incomplete AIS can include other disorders, such as:

    Failure of one or both testes to descend into the scrotum after birth
    Hypospadias, a condition in which the opening of the urethra is on the underside, instead of at the tip, of the penis
    Reifenstein syndrome (also known as Gilbert-Dreyfus syndrome or Lubs syndrome)

Infertile male syndrome is also considered to be part of incomplete AIS.

Symptoms

A person with complete AIS appears to be female but has no uterus, and has very little armpit and pubic hair. At puberty, female sex characteristics (such as breasts) develop. However, the person does not menstruate and become fertile.

Persons with incomplete AIS may have both male and female physical characteristics. Many have partial closing of the outer vaginal lips, an enlarged clitoris, and a short vagina.

There may be:

    A vagina but no cervix or uterus
    Inguinal hernia with testes that can be felt during a physical exam
    Normal female breasts
    Testes in the abdomen or other unusual places in the body"

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More info...

Intersex Society of North America
Androgen insensitivity syndrome  @NHS
Genetics Home Reference