Literature DB >> 19646663

Discordance in Mayer-von Rokitansky-Küster-Hauser Syndrome noted in monozygotic twins.

Ugonna A Duru1, Marc R Laufer.   

Abstract

BACKGROUND: We report a case of monochorionic, monoamniotic female twins with discordant congenital reproductive tract anomalies. CASE: We present the case of a 17-year-old monochorionic-monoamniotic female twin with Mayer-von Rokitansky-Küster-Hauser Syndrome (MRKH) and her twin sister, who had with normal female reproductive system. Monozygosity is investigated by the complete history, physical, and imaging data, antenatal and birth reports of both the patient and her monozygotic twin sister. Examination of these documents proves monozygosity of the sisters, and imaging studies demonstrate MRKH in one twin and normal female genitalia in the other. SUMMARY AND
CONCLUSION: This case is presented as proof of MRKH discordance in monozygotic twins.

Entities:  

Mesh:

Year:  2009        PMID: 19646663     DOI: 10.1016/j.jpag.2008.07.012

Source DB:  PubMed          Journal:  J Pediatr Adolesc Gynecol        ISSN: 1083-3188            Impact factor:   1.814


  10 in total

1.  Gene expression profile of patients with Mayer-Rokitansky-Küster-Hauser syndrome: new insights into the potential role of developmental pathways.

Authors:  Cristina Nodale; Simona Ceccarelli; Mariateresa Giuliano; Marcella Cammarota; Sirio D'Amici; Enrica Vescarelli; Diana Maffucci; Filippo Bellati; Pierluigi Benedetti Panici; Ferdinando Romano; Antonio Angeloni; Cinzia Marchese
Journal:  PLoS One       Date:  2014-03-07       Impact factor: 3.240

2.  Genetic Syndromes and Genes Involved in the Development of the Female Reproductive Tract: A Possible Role for Gene Therapy.

Authors:  Mt Connell; Cm Owen; Jh Segars
Journal:  J Genet Syndr Gene Ther       Date:  2013

Review 3.  Vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association with Mayer-Rokitansky-Küster-Hauser syndrome in co-occurrence: two case reports and a review of the literature.

Authors:  Thomas Bjørsum-Meyer; Morten Herlin; Niels Qvist; Michael B Petersen
Journal:  J Med Case Rep       Date:  2016-12-21

4.  Copy number variation and regions of homozygosity analysis in patients with MÜLLERIAN aplasia.

Authors:  Durkadin Demir Eksi; Yiping Shen; Munire Erman; Lynn P Chorich; Megan E Sullivan; Meric Bilekdemir; Elanur Yılmaz; Guven Luleci; Hyung-Goo Kim; Ozgul M Alper; Lawrence C Layman
Journal:  Mol Cytogenet       Date:  2018-02-03       Impact factor: 2.009

Review 5.  The Embryological Landscape of Mayer-Rokitansky-Kuster-Hauser Syndrome: Genetics and Environmental Factors.

Authors:  Isaac Kyei-Barffour; Miranda Margetts; Alla Vash-Margita; Emanuele Pelosi
Journal:  Yale J Biol Med       Date:  2021-12-29

Review 6.  Identification of Genetic Causes in Mayer-Rokitansky-Küster-Hauser (MRKH) Syndrome: A Systematic Review of the Literature.

Authors:  Varvara Ermioni Triantafyllidi; Despoina Mavrogianni; Andreas Kalampalikis; Michael Litos; Stella Roidi; Lina Michala
Journal:  Children (Basel)       Date:  2022-06-27

7.  Altered Expression of Candidate Genes in Mayer-Rokitansky-Küster-Hauser Syndrome May Influence Vaginal Keratinocytes Biology: A Focus on Protein Kinase X.

Authors:  Paola Pontecorvi; Francesca Megiorni; Simona Camero; Simona Ceccarelli; Laura Bernardini; Anna Capalbo; Eleni Anastasiadou; Giulia Gerini; Elena Messina; Giorgia Perniola; Pierluigi Benedetti Panici; Paola Grammatico; Antonio Pizzuti; Cinzia Marchese
Journal:  Biology (Basel)       Date:  2021-05-21

Review 8.  Options for acquiring motherhood in absolute uterine factor infertility; adoption, surrogacy and uterine transplantation.

Authors:  Benjamin P Jones; Niccole Ranaei-Zamani; Saaliha Vali; Nicola Williams; Srdjan Saso; Meen-Yau Thum; Maya Al-Memar; Nuala Dixon; Gillian Rose; Giuliano Testa; Liza Johannesson; Joseph Yazbek; Stephen Wilkinson; J Richard Smith
Journal:  Obstet Gynaecol       Date:  2021-03-19

Review 9.  Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: a comprehensive update.

Authors:  Morten Krogh Herlin; Michael Bjørn Petersen; Mats Brännström
Journal:  Orphanet J Rare Dis       Date:  2020-08-20       Impact factor: 4.123

Review 10.  Studying Müllerian duct anomalies - from cataloguing phenotypes to discovering causation.

Authors:  Laura Santana González; Mara Artibani; Ahmed Ashour Ahmed
Journal:  Dis Model Mech       Date:  2021-06-23       Impact factor: 5.758

  10 in total

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