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

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 kary...

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Detalles Bibliográficos
Autores principales: Shah, Viral N., Ganatra, Parth J., Parikh, Rajni, Kamdar, Panna, Baxi, Seema, Shah, Nishit
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2013
Materias:
Brief Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3830331/
https://www.ncbi.nlm.nih.gov/pubmed/24251185
http://dx.doi.org/10.4103/2230-8210.119605
Descripción
Sumario: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.

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