Literature DB >> 25260227

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: a historical perspective.

Sourav S Patnaik1, Bryn Brazile2, Vani Dandolu3, Peter L Ryan4, Jun Liao2.   

Abstract

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a congenital defect of the Müllerian ducts characterized by uterovaginal agenesis and underdeveloped female genital organs. This paper is a tribute to the contributors of this condition - August Franz Joseph Karl Mayer, Karl Freiherr von Rokitansky, Hermann Küster and Georges André Hauser. In addition to their contributions, we have discussed findings and reports of similar defects from other important scientists (Hippocrates, Albucasis, etc.) dating as far back as 460B.C. We have also discussed the disease types and different classification systems including VCUAM and AFS/ASRM among others. Even with several surgical and non-surgical treatment options, there are still many questions that remain unanswered and very little is known about the etiology or genetic predisposition of this condition.
Copyright © 2014 Elsevier B.V. All rights reserved.

Entities:  

Keywords:  August Franz Joseph Karl Mayer; Congenital defect; Developmental genes; Georges André Hauser; Hermann Küster; Karl Freiherr von Rokitansky; MRKH syndrome; Müllerian agenesis; Vaginal agenesis; Vaginoplasty

Mesh：

Year:  2014        PMID： 25260227     DOI： 10.1016/j.gene.2014.09.045

Source DB:  PubMed          Journal:  Gene        ISSN： 0378-1119            Impact factor:   3.688


  10 in total

1.  Low prevalence of male microchimerism in women with Mayer-Rokitansky-Küster-Hauser syndrome.

Authors:  H E Peters; B N Johnson; E A Ehli; D Micha; M O Verhoeven; G E Davies; J J M L Dekker; A Overbeek; M H van den Berg; E van Dulmen-den Broeder; F E van Leeuwen; V Mijatovic; D I Boomsma; C B Lambalk
Journal:  Hum Reprod       Date:  2019-06-04       Impact factor: 6.918

2.  Identifying digenic disease genes via machine learning in the Undiagnosed Diseases Network.

Authors:  Souhrid Mukherjee; Joy D Cogan; John H Newman; John A Phillips; Rizwan Hamid; Jens Meiler; John A Capra
Journal:  Am J Hum Genet       Date:  2021-09-15       Impact factor: 11.025

3.  Mayer-Rokitansky-Küster-Hauser Syndrome with Alopecia: A Rare Case Report with Review of Literature.

Authors:  Sanjiv V Choudhary; Uday V Choudhari
Journal:  Int J Trichology       Date:  2016 Jul-Sep

4.  Evaluation of Mayer-Rokitansky-Küster-Hauser syndrome with magnetic resonance imaging: Three patterns of uterine remnants and related anatomical features and clinical settings.

Authors:  Yue Wang; Jingjing Lu; Lan Zhu; Zhijing Sun; Bo Jiang; Feng Feng; Zhengyu Jin
Journal:  Eur Radiol       Date:  2017-07-03       Impact factor: 5.315

5.  Rare genital malformations in women's health research: sociodemographic, regional, and disease-related characteristics of patients with Mayer-Rokitansky-Küster-Hauser syndrome.

Authors:  Sara Yvonne Brucker; Leonie-Sophia Pösch; Joachim Graf; Alexander N Sokolov; Norbert Schaeffeler; Andrea Kronenthaler; Hanna Hiltner; Anke Wagner; Esther Ueding; Monika A Rieger; Dorit Schöller; Diana Stefanescu; Kristin Katharina Rall; Diethelm Wallwiener; Elisabeth Simoes
Journal:  BMC Womens Health       Date:  2020-06-29       Impact factor: 2.809

6.  Single-cell sequencing of neonatal uterus reveals an Misr2+ endometrial progenitor indispensable for fertility.

Authors:  Hatice Duygu Saatcioglu; Motohiro Kano; Heiko Horn; Lihua Zhang; Wesley Samore; Nicholas Nagykery; Marie-Charlotte Meinsohn; Minsuk Hyun; Rana Suliman; Joy Poulo; Jennifer Hsu; Caitlin Sacha; Dan Wang; Guangping Gao; Kasper Lage; Esther Oliva; Mary E Morris Sabatini; Patricia K Donahoe; David Pépin
Journal:  Elife       Date:  2019-06-24       Impact factor: 8.140

7.  Vaginal Reconstruction in Patients with Mayer-Rokitansky-Küster-Hauser Syndrome-One Centre Experience.

Authors:  Adelaida Avino; Laura Răducu; Adrian Tulin; Daniela-Elena Gheoca-Mutu; Andra-Elena Balcangiu-Stroescu; Cristina-Nicoleta Marina; Cristian-Radu Jecan
Journal:  Medicina (Kaunas)       Date:  2020-07-01       Impact factor: 2.430

8.  Evaluation and Management of Unexpected Functional Rudimentary Uteri in Mayer-Rokitansky-Küster-Hauser Syndrome of Chinese Women.

Authors:  Shan Deng; Lan Zhu; Qinjie Tian
Journal:  Biomed Res Int       Date:  2020-11-24       Impact factor: 3.411

Review 9.  Diagnosis and Management of Ovarian Tumor in Mayer-Rokitansky-Küster-Hauser (MRKH) Syndrome.

Authors:  Yali Miao; Jirui Wen; Liwei Huang; Jiang Wu; Zhiwei Zhao
Journal:  Biomed Res Int       Date:  2018-03-12       Impact factor: 3.411

10.  Transcriptional landscape of the embryonic chicken Müllerian duct.

Authors:  Zahida Yesmin Roly; Rasoul Godini; Martin A Estermann; Andrew T Major; Roger Pocock; Craig A Smith
Journal:  BMC Genomics       Date:  2020-10-02       Impact factor: 3.969
  10 in total

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