International Journal of Science and Research (IJSR)

International Journal of Science and Research (IJSR)
Since Year 2012 | Open Access | Double Blind Reviewed

ISSN: 2319-7064




Downloads: 107

Case Studies | Paediatrics | India | Volume 9 Issue 1, January 2020


Testicular Feminising Syndrome

Jayalakshmi Murupuri | B. Anjaiah [2]


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,


Edition: Volume 9 Issue 1, January 2020,


Pages: 971 - 972


How to Cite this Article?

Jayalakshmi Murupuri, B. Anjaiah, "Testicular Feminising Syndrome", International Journal of Science and Research (IJSR), Volume 9 Issue 1, January 2020, pp. 971-972, https://www.ijsr.net/get_abstract.php?paper_id=ART20204218

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