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Coexistence of Gonadal Dysgenesis and Mullerian Agenesis in a Female with 46,XX Karyotype: A Case Report

Gonadal dysgenesis is a rare genetically heterogeneous disorder characterized by underdeveloped ovaries with consequent, impuberism, primary amenorrhea, and hypergonadotropic hypogonadism. Mullerian agenesis or Mayer Rokitansky Kuster Hauser syndrome is characterized by congenital aplasia of the ute...

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Autores principales: Jha, Santosh Kumar, Manandhar, Rosina, Shrivastava, Veena Rani
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Journal of the Nepal Medical Association 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8827577/
https://www.ncbi.nlm.nih.gov/pubmed/31477946
http://dx.doi.org/10.31729/jnma.4287
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author Jha, Santosh Kumar
Manandhar, Rosina
Shrivastava, Veena Rani
author_facet Jha, Santosh Kumar
Manandhar, Rosina
Shrivastava, Veena Rani
author_sort Jha, Santosh Kumar
collection PubMed
description Gonadal dysgenesis is a rare genetically heterogeneous disorder characterized by underdeveloped ovaries with consequent, impuberism, primary amenorrhea, and hypergonadotropic hypogonadism. Mullerian agenesis or Mayer Rokitansky Kuster Hauser syndrome is characterized by congenital aplasia of the uterus and the upper part (2/3) of the vagina in a woman with normal development of secondary sexual characteristics and a normal 46,XX karyotype. The association of gonadal dysgenesis and Mayer-Rokitansky-Kuster-Hauser syndrome is very rare and appears to be coincidental. We report a case of a 24 year old woman who presented with primary amenorrhea. The endocrine study revealed hypergonadotrophic hypogonadism. The karyotype was normal, 46,XX. Internal genitalia could not be identified on pelvic ultrasound and pelvic MRI. There were no other morphological malformations.
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spelling pubmed-88275772022-03-01 Coexistence of Gonadal Dysgenesis and Mullerian Agenesis in a Female with 46,XX Karyotype: A Case Report Jha, Santosh Kumar Manandhar, Rosina Shrivastava, Veena Rani JNMA J Nepal Med Assoc Case Report Gonadal dysgenesis is a rare genetically heterogeneous disorder characterized by underdeveloped ovaries with consequent, impuberism, primary amenorrhea, and hypergonadotropic hypogonadism. Mullerian agenesis or Mayer Rokitansky Kuster Hauser syndrome is characterized by congenital aplasia of the uterus and the upper part (2/3) of the vagina in a woman with normal development of secondary sexual characteristics and a normal 46,XX karyotype. The association of gonadal dysgenesis and Mayer-Rokitansky-Kuster-Hauser syndrome is very rare and appears to be coincidental. We report a case of a 24 year old woman who presented with primary amenorrhea. The endocrine study revealed hypergonadotrophic hypogonadism. The karyotype was normal, 46,XX. Internal genitalia could not be identified on pelvic ultrasound and pelvic MRI. There were no other morphological malformations. Journal of the Nepal Medical Association 2019-04 2019-04-30 /pmc/articles/PMC8827577/ /pubmed/31477946 http://dx.doi.org/10.31729/jnma.4287 Text en © The Author(s) 2018. https://creativecommons.org/licenses/by/4.0/This is an Open-Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0) which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Jha, Santosh Kumar
Manandhar, Rosina
Shrivastava, Veena Rani
Coexistence of Gonadal Dysgenesis and Mullerian Agenesis in a Female with 46,XX Karyotype: A Case Report
title Coexistence of Gonadal Dysgenesis and Mullerian Agenesis in a Female with 46,XX Karyotype: A Case Report
title_full Coexistence of Gonadal Dysgenesis and Mullerian Agenesis in a Female with 46,XX Karyotype: A Case Report
title_fullStr Coexistence of Gonadal Dysgenesis and Mullerian Agenesis in a Female with 46,XX Karyotype: A Case Report
title_full_unstemmed Coexistence of Gonadal Dysgenesis and Mullerian Agenesis in a Female with 46,XX Karyotype: A Case Report
title_short Coexistence of Gonadal Dysgenesis and Mullerian Agenesis in a Female with 46,XX Karyotype: A Case Report
title_sort coexistence of gonadal dysgenesis and mullerian agenesis in a female with 46,xx karyotype: a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8827577/
https://www.ncbi.nlm.nih.gov/pubmed/31477946
http://dx.doi.org/10.31729/jnma.4287
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