Syndrome, testicular feminization
Now more appropriately called the complete androgen insensitivity syndrome, this is 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.

Medical dictionary. 2011.

Look at other dictionaries:

  • testicular feminization — n a genetic defect characterized by the presence in a phenotypically female individual of the normal X and Y chromosomes of a male, undeveloped and undescended testes, and functional sterility called also testicular feminization syndrome * * *… …   Medical dictionary

  • Testicular feminization syndrome — Now more appropriately called the complete androgen insensitivity syndrome, this is a genetic disorder that makes XY fetuses insensitive (unresponsive) to androgens (male hormones). Instead, they are born looking externally like normal girls.… …   Medical dictionary

  • testicular feminization syndrome — see androgen insensitivity syndrome …   The new mediacal dictionary

  • testicular feminization incomplete — partial androgen insensitivity syndrome …   Medical dictionary

  • syndrome — The aggregate of symptoms and signs associated with any morbid process, and constituting together the picture of the disease. SEE ALSO: disease. [G. s., a running together, tumultuous concourse; (in med.) a concurrence of symptoms, fr. syn,… …   Medical dictionary

  • Syndrome, androgen insensitivity — Also known as complete androgen insensitivity syndrome. This is 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… …   Medical dictionary

  • Syndrome, complete androgen insensitivity — 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… …   Medical dictionary

  • feminization — Development of what are superficially external female characteristics by a male. testicular f. SYN: complete androgen insensitivity syndrome.testicular f. syndrome. * * * n. the development of female secondary sexual characteristics (enlargement… …   Medical dictionary

  • Androgen insensitivity syndrome — Classification and external resources AIS results when the function of the androgen receptor (AR) is impaired. The AR protein (pictured) mediates the effects of androgens in the human body. ICD 10 E …   Wikipedia

  • Complete androgen insensitivity syndrome — Classification and external resources AIS results when the function of the androgen receptor (AR) is impaired. The AR protein (pictured) mediates the effects of androgens in the human body. ICD 10 …   Wikipedia

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