Geneticists--Can someone tell me about the gene mutation that causes androgen insensitivity syndrome?

Question

Androgen Insensitivity Syndrome is also sometimes called testicular feminization. This is for a genetics paper I'm working on, and I know it's a frame shift or a point mutation on a gene that blocks it from binding to the androgen receptor, thus causing the female characteristics with the XY chromosome. But, I'm looking for something more in depth, and also the symptoms of this disorder. If anyone can provide any information in addition to the little that I already know, it would be much appreciated.

Answer 1

Androgen insensitivity syndrome is a condition that affects sexual development before birth and during puberty. People with this condition are genetically male, with one X and one Y chromosome. Because their bodies are unable to respond to certain hormones (called androgens), they may have mostly female sexual characteristics or signs of both male and female sexual development (hermaphroditism).

Complete androgen insensitivity syndrome occurs when the body cannot use androgens at all. Partial or mild androgen insensitivity syndrome results when tissues are partially sensitive to the effects of androgens. People with partial androgen insensitivity (also called Reifenstein syndrome) can have normal female sexual characteristics, both male and female sexual characteristics, or normal male sexual characteristics. People with mild androgen insensitivity appear male, but are often infertile and tend to develop female breasts at puberty.

In its classic form (complete androgen resistance), the person appears to be female but has no uterus, and has sparse armpit and pubic hair. At puberty, female secondary sex characteristics (e.g., breasts) develop, but menstruation and fertility do not.

Complete AIS is rarely discovered during childhood, unless a mass is felt in the abdomen or groin that turns out to be a testicle when it is explored surgically. Most with this condition are not diagnosed until they fail to menstruate or they try to become pregnant and find that they are infertile.

Incomplete AIS, however, is often discovered during childhood because a person may have both male and female physical characteristics. Many have partial fusion of the outer vaginal lips, an enlarged clitoris, and a short, blind-ending vagina.

The individual is often diagnosed because of ambiguous genitalia. Sometimes, though, the person has primarily male characteristics and the only symptom is a low sperm count as an adult, perhaps with breast enlargement.

Complete androgen insensitivity syndrome affects 2 to 5 per 100,000 live male births. Partial androgen insensitivity is at least as common as complete androgen insensitivity. Mild androgen insensitivity is much less common.

Mutations in the AR gene cause androgen insensitivity syndrome.

The AR gene provides instructions to make a protein called an androgen receptor. This protein allows cells to respond to androgens, which are hormones (such as testosterone) that direct male sexual development. Androgens and androgen receptors also have other important functions in both males and females, such as regulating hair growth and sex drive. Mutations in the AR gene prevent the androgen receptor from working properly, which makes cells less responsive to androgens or prevents cells from using these hormones at all. Depending on the level of androgen insensitivity, an affected person's sexual characteristics can vary from mostly female to mostly male.

Androgen insensitivity syndrome (AIS) can be subdivided into three phenotypes: complete androgen insensitivity syndrome (CAIS), partial androgen insensitivity syndrome (PAIS), and mild androgen insensitivity syndrome (MAIS) (Table 1).

The clinical findings that permit a presumptive diagnosis of AIS include the following:

* Absence of extragenital abnormalities
* Two nondysplastic testes
* Absent or rudimentary müllerian structures (i.e., fallopian tubes, uterus, and cervix) and the presence of a short vagina
* Undermasculinization of the external genitalia at birth
* Impaired spermatogenesis and/or somatic virilization at puberty

Answer 2

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Answer 3

http://www.geneclinics.org/profiles/androgen/details.html
I thing it helps.