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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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
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author Shah, Viral N.
Ganatra, Parth J.
Parikh, Rajni
Kamdar, Panna
Baxi, Seema
Shah, Nishit
author_facet Shah, Viral N.
Ganatra, Parth J.
Parikh, Rajni
Kamdar, Panna
Baxi, Seema
Shah, Nishit
author_sort Shah, Viral N.
collection PubMed
description 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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spelling pubmed-38303312013-11-18 Coexistence of gonadal dysgenesis and Mayer-Rokitansky-Kuster-Hauser syndrome in 46, XX female: A case report and review of literature Shah, Viral N. Ganatra, Parth J. Parikh, Rajni Kamdar, Panna Baxi, Seema Shah, Nishit Indian J Endocrinol Metab Brief Communication 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. Medknow Publications & Media Pvt Ltd 2013-10 /pmc/articles/PMC3830331/ /pubmed/24251185 http://dx.doi.org/10.4103/2230-8210.119605 Text en Copyright: © Indian Journal of Endocrinology and Metabolism http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Brief Communication
Shah, Viral N.
Ganatra, Parth J.
Parikh, Rajni
Kamdar, Panna
Baxi, Seema
Shah, Nishit
Coexistence of gonadal dysgenesis and Mayer-Rokitansky-Kuster-Hauser syndrome in 46, XX female: A case report and review of literature
title Coexistence of gonadal dysgenesis and Mayer-Rokitansky-Kuster-Hauser syndrome in 46, XX female: A case report and review of literature
title_full Coexistence of gonadal dysgenesis and Mayer-Rokitansky-Kuster-Hauser syndrome in 46, XX female: A case report and review of literature
title_fullStr Coexistence of gonadal dysgenesis and Mayer-Rokitansky-Kuster-Hauser syndrome in 46, XX female: A case report and review of literature
title_full_unstemmed Coexistence of gonadal dysgenesis and Mayer-Rokitansky-Kuster-Hauser syndrome in 46, XX female: A case report and review of literature
title_short Coexistence of gonadal dysgenesis and Mayer-Rokitansky-Kuster-Hauser syndrome in 46, XX female: A case report and review of literature
title_sort coexistence of gonadal dysgenesis and mayer-rokitansky-kuster-hauser syndrome in 46, xx female: a case report and review of literature
topic Brief Communication
url 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
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