TESTICULAR FEMINISING SYNDROME
Journal Title: Journal of Evolution of Medical and Dental Sciences - Year 2014, Vol 3, Issue 13
Abstract
Testicular feminization syndrome is a form of pseudohermaphroditism where phenotypic female has male gonads and is genotypically male. Androgen insensitivity syndrome (AIS), also known as testicular feminization, encompasses a wide range of phenotypes that are caused by numerous different mutations in the androgen receptor gene. AIS is an X-linked recessive disorder that is classified as complete, partial based on the phenotypic presentation. The clinical findings include a female type of external genitalia, 46-XY karyotype, absence of Mullerian structures, presence of Wolffian structures to various degrees, and normal to high testosterone and gonadotropin levels. The syndrome is illustrated by a 24-year-old phenotypic female who presented with a primary amenorrhea, female-type external genitalia, an absent uterus and ovaries, and bilateral testes at the level of the internal inguinal ring. Management includes counseling, gonadectomy to prevent primary malignancy in undescended gonad, and hormone replacement. The karyotyping of family members is advocated because of known familial tendencies.
Authors and Affiliations
Vijay Kumar, Prema Pradhudev, Kalyani C
Keywords
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- EP ID EP95589
- DOI 10.14260/jemds/2014/2285
- Views 108
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