Results 31 to 40 of about 1,143,195 (179)

MAYER-ROKITANSKY-KUSTER-HAUSER (MRKH) SYNDROME TYPE 2: ATYPICAL PRESENTATION OF RARE CASE [PDF]

National Journal of Medical Research, 2013
Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is a congenital malformation characterized by an absence of the vagina associated with a variable abnormality of the uterus and the urinary tract but functional ovaries.
Ashok Nakum, Kesharmal Kumawat, Hiral Chauhan, Jayesh V Parikh   +3 more
doaj   +1 more source

Diagnosis and Management of Ovarian Tumor in Mayer-Rokitansky-Küster-Hauser (MRKH) Syndrome. [PDF]

Biomed Res Int, 2018
In the most recent publications on Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, the uterine remnants and ovaries in patients may develop uterine remnant leiomyoma, adenomyosis, or ovarian tumor, and this can lead to problems in differential diagnosis.
Miao Y, Wen J, Huang L, Wu J, Zhao Z.
europepmc   +2 more sources

Associations of Polymorphisms in WNT9B and PBX1 with Mayer-Rokitansky-Küster-Hauser Syndrome in Chinese Han. [PDF]

PLoS ONE, 2015
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a rare syndrome that is characterized by congenital aplasia of the uterus and the upper portion (2/3) of the vagina. Previous attempts to identify causal mutations of MRKH syndrome have primarily resulted
Wenqing Ma, Ya Li, Man Wang, Haixia Li, Tiefen Su, Yan Li, Shixuan Wang   +6 more
doaj   +1 more source

Dissociative disorder in Mayer Rokitansky Küster Hauser syndrome with pulmonary agenesis: a case report

The Egyptian Journal of Neurology, Psychiatry and Neurosurgery, 2022
Background The Mayer Rokitansky Küster Hauser (MRKH) syndrome is a rare congenital disorder characterized by the absence of uterus and vagina in a patient who is phenotypically a female, with 46 XX karyotypes.
Sulochana Joshi, Anup Raj Bhandari, Prashant Shrestha, Rabi Shakya   +3 more
doaj   +1 more source

Mayer-Rokitansky-Küster-Hauser syndrome with 22q11.21 microduplication: a case report

Journal of Medical Case Reports, 2021
Background Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome (Online Mendelian Inheritance in Man [OMIM] #277000) is a congenital condition characterized by the total or partial agenesis of vagina and uterus.
Domenico Dell’Edera, Arianna Allegretti, Mario Ventura, Ludovica Mercuri, Angela Mitidieri, Giacinto Cuscianna, Annunziata Anna Epifania, Elisena Morizio, Melissa Alfonsi, Paolo Guanciali-Franchi   +9 more
doaj   +1 more source

Torsion of a rudimentary uterine horn with multiple leiomyomas in a case of Mayer-Rokitansky-Küster-Hauser syndrome

Clinical and Experimental Obstetrics & Gynecology, 2020
The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is characterized by congenital hypoplasia or aplasia of the uterus and vaginal agenesis. A 53-year-old woman presented to the emergency department with severe abdominal pain.
M.S. Kim, E.D. Na, H.C. Kim, M. Kim, S.Y. Shin, M.H. Lee   +5 more
doaj   +1 more source

The impact of Mayer–Rokitansky–Küster–Hauser Syndrome on Psychology, Quality of Life, and Sexual Life of Patients: A Systematic Review

Children, 2022
Background: Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome is a rare congenital syndrome characterized by uterovaginal agenesis. Most patients are diagnosed during adolescence, when body image and sexual identity are shaped.
Ermioni Tsarna, Anna Eleftheriades, Makarios Eleftheriades, Emmanouil Kalampokas, Maria-Konstantina Liakopoulou, Panagiotis Christopoulos   +5 more
doaj   +1 more source

Rare variant enrichment analysis supports GREB1L as a contributory driver gene in the etiology of Mayer-Rokitansky-Küster-Hauser syndrome

HGG Advances, 2023
Summary: Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is characterized by aplasia of the female reproductive tract; the syndrome can include renal anomalies, absence or dysgenesis, and skeletal anomalies. While functional models have elucidated several
Angad Jolly, Haowei Du, Christelle Borel, Na Chen, Sen Zhao, Christopher M. Grochowski, Ruizhi Duan, Jawid M. Fatih, Moez Dawood, Sejal Salvi, Shalini N. Jhangiani, Donna M. Muzny, André Koch, Konstantinos Rouskas, Stavros Glentis, Efthymios Deligeoroglou, Flora Bacopoulou, Carol A. Wise, Jennifer E. Dietrich, Ignatia B. Van den Veyver, Antigone S. Dimas, Sara Brucker, V. Reid Sutton, Richard A. Gibbs, Stylianos E. Antonarakis, Nan Wu, Zeynep H. Coban-Akdemir, Lan Zhu, Jennifer E. Posey, James R. Lupski   +29 more
doaj   +1 more source

A UNIQUE CASE REPORT OF MRKH SYNDROME

International Journal of Medical and Biomedical Studies, 2021
Mullerian duct malformation occurs in various forms and each anomaly is distinctive. Cervical atresia or agenesis(AFS class 2B) is a rare anomaly and is associated with absence of a portion or whole of vagina. These patients present with primary amenorrhea and well developed secondary sexual characters and cyclical abdominal pain.
S. Qureshi, Neeta Karda, Rashi Hingankar, Abhishek Shukla, Faiz Khan   +4 more
openaire   +1 more source

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

Biology, 2021
Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome is a rare and complex disease defined by congenital aplasia of the vagina and uterus in 46,XX women, often associated with kidney and urinary tract anomalies.
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   +13 more
doaj   +1 more source