Downloading: Testicular Feminising Syndrome
International Journal of Science and Research (IJSR)

International Journal of Science and Research (IJSR)
www.ijsr.net | Open Access | Fully Refereed | Peer Reviewed International Journal

ISSN: 2319-7064



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Testicular Feminising Syndrome

Jayalakshmi Murupuri, B. Anjaiah

Abstract: Testicular feminization syndrome is a form of pseudo hermaphroditism 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 15-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 (bilateral orchidectomy) to prevent primary malignancy in undescended gonad, and hormone replacement. The karyotyping of family members is advocated because of known familial tendencies.

Keywords: testicular feminising syndrome, orchidectomy,



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