complete androgen insensitivity syndrome


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complete androgen insensitivity syndrome

a lack of testosterone receptors in a genotypically male infant causes it to appear phenotypically female; the infant has estes but also the distal third of the vagina, a clitoris, and the labia major and minor, but no uterus or fallopian tubes.
See also: testicular feminization 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.
References in periodicals archive ?
DISCUSSION: Complete Androgen insensitivity syndrome (CAIS) was initially described in 1953 and has an incidence of 1: 2000 to 1: 64,000(2) and accounts for 10% of cases of primary amenorrhoea (3).They present either with inguinal hernias, or labial masses, primary amenorrhoea during adolescence, primary infertility after marriage.
TORONTO-- Teenagers with complete androgen insensitivity syndrome need to be told that they are at high risk for sexual dysfunction, Dr.
Mutations in AR gene disrupt function of Androgen receptor, such as missense amino acid substitutions, leading to diminished spermatogenesis and enhanced feminization of individual, resulting in complete androgen insensitivity syndrome.4
In Complete Androgen Insensitivity syndrome (CAIS) the complete female appearance at birth usually masks the condition completely and the infants are raised without any doubt as girls.

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