Coexistence of gonadal dysgenesis and Mayer-Rokitansky-Kuster-Hauser syndrome in 46, XX female: A case report and review of literature

• Main Authors: Viral N Shah, Parth J Ganatra, Rajni Parikh, Panna Kamdar, Seema Baxi, Nishit Shah
• Format: Article
• Language: English
• Published: Wolters Kluwer Medknow Publications 2013-01-01
• Series: Indian Journal of Endocrinology and Metabolism
• Subjects: Gonadal dysgenesis; Mayer-Rokitansky-Kuster-Hauser syndrome; hypogonadism; primary amenorrhea
• Online Access: http://www.ijem.in/article.asp?issn=2230-8210;year=2013;volume=17;issue=7;spage=274;epage=277;aulast=Shah
• ISSN: 2230-8210; 2230-9500

The association of gonadal dysgenesis and Mayer-Rokitansky-Kuster-Hauser syndrome is very rare. We report a 21-year-old phenotypical female who presented with primary amenorrhea and underdeveloped secondary sexual characteristics. Hormonal evaluation revealed hypergonadotropic hypogonadism. Her karyotype was 46XX. Laparoscopy of pelvis revealed absent uterus, normal fallopian tubes and bilateral streak ovaries, which were biopsied and histopathology was consistent with the findings of gonadal dysgenesis. We searched PubMed for similar reports in the literature and details of all the cases were analyzed and reported here.