Results 51 to 60 of about 1,398,641 (158)

Mayer-Rokitansky-Küster-Hauser-Syndrom

Das Mayer-Rokitansky-Küster-Hauser-Syndrom (MRKH) ist eine einschneidende Diagnose für Jugendliche mit weitreichenden Konsequenzen. Das MRKH-Syndrom wird meist entdeckt durch das Ausbleiben der Menstruation in der Pubertät und wird in zwei Formen ...
Betschart, Cornelia; https://orcid.org/, Lange, Sören; https://orcid.org/   +1 more
core   +2 more sources

Paraparesis and congenital severe hyperkyphosis in Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: A rare deformity management during the Sars-Cov-2 pandemic

Brain and Spine, 2023
Introduction: Mayer-Rokitansky-Küster-Hauser syndrome (MRKH) syndrome can be classified into two types: type I (isolated) without extragenital abnormalities; type II (associated) with the presence of extragenital dimorphisms.
Giovanni Andrea La Maida, Andrea Della Valle, Enrico Gallazzi, Marcello Ferraro, Davide Cecconi, Alfonso Cicatelli, Daniele Priano, Luca La Verde, Bernardo Misaggi   +8 more
doaj   +1 more source

Genetic Characterization and Multidisciplinary Management of Complete Androgen Insensitivity Syndrome: Unveiling a Novel AR Mutation

Clinical Case Reports, Volume 14, Issue 5, May 2026.
ABSTRACT A novel AR frameshift mutation (c.2023_2035del) was identified in a 17‐year‐old phenotypic female with Complete Androgen Insensitivity Syndrome (CAIS). This report emphasizes the necessity of molecular characterization and multidisciplinary management to address diagnosis, surgical timing, and psychological well‐being in disorder of sex ...
Maria Francesca Astorino, Serena Scalise, Chiara Di Bella, Maria Angela La Rosa, Basilia Piraino, Marco Calabrò, Mattia Gentile, Rosaria Maddalena Ruggeri, Emanuela Esposito, Silvana Briuglia, Salvatore Cannavò   +10 more
wiley   +1 more source

Detection of the Heterozygous Recurrent MAX p.(Arg60Gln) Variant in Two Females Confirms and Expands the Phenotypic Spectrum of Polydactyly–Macrocephaly Syndrome

Clinical Genetics, Volume 109, Issue 4, Page 788-795, April 2026.
We identified a recurrent heterozygous MAX c.179G>A:p.Arg60Gln variant in two unrelated females affected with the emerging phenotypes of MAX‐associated polydactyly‐macrocephaly syndrome. We propose that genitourinary abnormalities, including Mayer–Rokitanski–Kuster–Hauser syndrome in one individual, are an expansion of the known phenotypes associated ...
Iftekhar A. Showpnil, Neta Feinstein‐Goren, Lior Greenbaum, Ortal Barel, Daniel C. Koboldt, Samantha A. Brugmann, Kathryn Nicole Weaver, Anne Slavotinek, Ben Pode‐Shakked, Rolf W. Stottmann   +9 more
wiley   +1 more source

Радиологические характеристики синдрома Mayer-Rokitansky-Küster-Hauser [PDF]

, 2016
IMSP Institutul Mamei şi Copilului, Universitatea de Stat de Medicină şi Farmacie ”Nicolae Testemiţanu”The authors present the results of the use of magnetic resonance imaging (MRI) and spiral computed tomography (SCT) to establish variants of the Mayer ...
Mişina, Ana, Rotaru, Natalia
core   +1 more source

Syndrome de Mayer-Rokitansky-Küster-Hauser

PAMJ Clinical Medicine, 2019
Le syndrome de Mayer-Rokitansky-Küster-Hauser est une malformation rare de la filière génitale chez la femme qui se définit par l’agénésie de l’utérus et du vagin mais avec des ovaires normaux.
Hassan Doulhousne, Zakaria Toufga, Abdelilah Mouhsine, Mehdi Atmane   +3 more
doaj   +1 more source

Detection of de novo genetic variants in Mayer–Rokitansky–Küster–Hauser syndrome by whole genome sequencing

European Journal of Obstetrics & Gynecology and Reproductive Biology: X, 2019
Objective: The aim of this study was to use whole genome sequencing (WGS) help detect de novo mutations or pathogenic genes of Mayer-Rokitansky-Küster-Hauser syndrome type 1(MRKH syndrome type 1). Study design: This was a case-parent trios study.
Hong-xin Pan, Guang-nan Luo, Sheng-qing Wan, Cheng-lu Qin, Jie Tang, Meng Zhang, Min Du, Ke-ke Xu, Jin-qiu Shi   +8 more
doaj   +1 more source

Unraveling the Genetic Mysteries of Müllerian Anomalies: Research Approaches and Clinical Significance

Clinical Genetics, Volume 109, Issue 4, Page 615-629, April 2026.
This review primarily summarizes the genetic defects in Müllerian anomalies, the tools used to validate these genetic defects, and the future clinical significance of identifying the precise genetic etiology of Müllerian anomalies. ABSTRACT Müllerian anomalies are a collection of heterogeneous anatomical disorders of the female genital tract that ...
Jingfang Li, Xin Hou, Xiangyu Wang, Juan Li, Li Li, Xiangyi Ma   +5 more
wiley   +1 more source

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

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  

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome

Orphanet Journal of Rare Diseases, 2007
The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is characterized by congenital aplasia of the uterus and the upper part (2/3) of the vagina in women showing normal development of secondary sexual characteristics and a normal 46, XX karyotype.
Camborieux Laure, Morcel Karine, Guerrier Daniel   +2 more
doaj   +1 more source