testicular feminization syndrome


testicular

 [tes-tik´u-lar] pertaining to the testis.testicular feminization syndrome complete resistance" >androgen resistance.

tes·tic·u·lar fem·i·ni·za·tion syn·drome

[MIM*313700] a type of male pseudohermaphroditism characterized by female external genitalia (may be ambiguous if the syndrome is incomplete), incompletely developed vagina often with rudimentary uterus and fallopian tubes, female habitus at puberty with normal size breasts but with scanty or absent axillary and pubic hair and amenorrhea, and testes present within the abdomen or in the inguinal canals or labia majora; epididymis and vas deferens are usually present; androgens and estrogens are formed, but target tissues are largely unresponsive to androgens; individuals have a normal male karyotype; X-linked recessive inheritance, caused by mutation in the androgen receptor gene (AR) on chromosome Xq.
See also: complete androgen insensitivity syndrome.

tes·tic·u·lar fem·i·ni·za·tion syn·drome

[MIM*313700] a type of male pseudohermaphroditism characterized by female external genitalia (may be ambiguous if the syndrome is incomplete), incompletely developed vagina often with rudimentary uterus and fallopian tubes, female habitus at puberty with normal size breasts but with scanty or absent axillary and pubic hair and amenorrhea, and testes present within the abdomen or in the inguinal canals or labia majora; epididymis and vas deferens are usually present; androgens and estrogens are formed, but target tissues are largely unresponsive to androgens; individuals have a normal male karyotype; X-linked recessive inheritance, caused by mutation in the androgen receptor gene (AR) on chromosome Xq.
See also: complete androgen insensitivity syndrome.

tes·tic·u·lar fem·i·ni·za·tion syn·drome

(tes-tik'yū-lăr fem'i-nī-zā'shŭn sin'drōm) A type of male pseudohermaphroditism characterized by female external genitalia, incompletely developed vagina (often with rudimentary uterus and uterine tubes), female habitus at puberty but with scanty or absent axillary and pubic hair and amenorrhea, and testes present within the abdomen or in the inguinal canalsor labia majora; epididymis and vas deferens are usually present; androgens and estrogens are formed, but target tissues are largely unresponsive to androgens; affected people are sex chromatin-negative and have a normal male karyotype; there is a defect in the androgen receptor protein.
Synonym(s): complete androgen insensitivity syndrome.

testicular feminization syndrome

A rare X-linked, genetically induced defect of the male sex hormone receptors on the surface of body cells in men. Male hormones are thus unable to act and normal male characteristics cannot develop. There is male PSEUDOHERMAPHRODITISM. The testicles are present, but undescended, the penis is rudimentary and there is a short, blind-ended vagina. The breasts may be well developed. It is usual to removed the testicles and give female sex hormones to promote full development of the nominal female sex.