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Definition of «Androgen insensitivity syndrome, complete»

Androgen insensitivity syndrome, complete

Androgen insensitivity syndrome, complete: A genetic disorder that makes XY fetuses insensitive (unresponsive) to androgens (male hormones). Instead, they are born looking externally like normal girls. Internally, there is a short blind-pouch vagina and no uterus, fallopian tubes or ovaries. There are testes in the abdomen or the inguinal canal.

The complete androgen insensitivity syndrome is usually detected at puberty when a girl should but does not begin to menstruate. Many of the girls with the syndrome have no pubic or axillary (armpit) hair. They have luxuriant scalp hair without temporal (male-pattern) balding. They are sterile and cannot bear children. They are at high risk for osteoporosis and so should take estrogen replacement therapy.

The gene for the syndrome is on the X chromosome in band Xq11-q12. The gene codes for the androgen receptor (also called the dihydrotestosterone receptor). This gene is mutant in the complete androgen insensitivity syndrome. Because of the mutation, the cells cannot respond to androgen. If a woman has the mutation on one of her X chromosomes, the risk for each of her XY offspring to receive the gene and have the syndrome is one-half (50%).

There are also partial androgen insensitivity syndromes. They usually result in micropenis with hypospadias and gynecomastia (male breast development). These conditions (which include a disorder called Reifenstein syndrome) are also due to mutations in the androgen receptor gene.

The complete androgen insensitivity syndrome was once referred to as testicular feminization (TFM). The name "complete androgen insensitivity syndrome" is scientifically accurate and is more satisfactory to patients and their families.

For More Information «Androgen insensitivity syndrome, complete»

  • Androgen insensitivity syndrome - Genetics Home Reference

    People with complete androgen insensitivity syndrome also have sparse or absent hair in the pubic area and under the arms. The partial and mild forms of ...

  • BSPED |

    COMPLETE ANDROGEN INSENSITIVITY SYNDROME (CAIS) CAIS is a rare inherited condition in which babies with male sex chromosomes develop as girls because their bodies are ...

  • Androgen insensitivity syndrome - PubMed Health

    The syndrome is divided into two main categories: Complete AIS. Incomplete AIS. Complete androgen insensitivity prevents the development of the penis and other male ...

  • Androgen insensitivity syndrome, complete

    Androgen insensitivity syndrome, complete ORDR lists rare diseases for information purposes only and does not guarantee that a condition is rare.

  • Androgen Insensitivity Syndrome

    Androgen insensitivity syndrome, either complete or partial, has little medical morbidity or mortality. Over time, untreated patients have a theoretical risk ...

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