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testicular feminization syndrome


Definition: 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

Further information

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.