Results 51 to 60 of about 262,079 (155)

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

A rare case of Mayer–Rokitansky–Kuster–Hauser syndrome with right ectopic kidney diagnosed on MRI

The Egyptian Journal of Radiology and Nuclear Medicine, 2022
Introduction Meyer–Rokitansky–Küster–Hauser syndrome is rare congenital abnormality in females with a blind ending vagina. There can be associated hypoplasia of uterus. The syndrome is of sporadic origin and affects the reproductive life.
Rohan Kumar Singh, Prerna Anup Patwa, Gaurav Vedprakash Mishra, Rajasbala Pradeep Dhande, Suresh Vasant Phatak, K. B. Harshith Gowda   +5 more
doaj   +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

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  

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

Pathogenesis of Adenomyosis: An Integrated Review of Cellular Origins, Molecular Mechanisms, and Intersecting Diseases

Journal of Cellular and Molecular Medicine, Volume 30, Issue 7, April 2026.
ABSTRACT Adenomyosis is a prevalent disorder of the archimetra, historically conflated with endometriosis but possessing a unique pathobiological trajectory. This review synthesises current molecular evidence to propose a unified mechanistic framework initiated by tissue injury and repair (TIAR), aberrant stem cell activation, or de novo metaplasia ...
Jiang Yang, Xiaochong Li, Yu Peng, Zhongfeng Sun, Lingli Zhang, Jie Duan, Nanbert Zhong   +6 more
wiley   +1 more source

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

Ionic–Bionic Interfaces: Advancing Iontronic Strategies for Bioelectronic Sensing and Therapy

Advanced Science, Volume 13, Issue 16, 18 March 2026.
Ionic–bionic interfaces for bioelectronics leverage ions as multifunctional mediators that combine mechanical compliance, ionic and electronic functionalities, and therapeutic effects. These systems offer real‐time biosignal transduction, effective wound dressing, responsive drug delivery, and seamless interaction between soft tissues and electronic ...
Yun Goo Ro, Yoojin Chang, Jeeyoon Kim, Seungjae Lee, Sangyun Na, Cheolhong Park, Hyunhyub Ko   +6 more
wiley   +1 more source

Report and review of described associations of Mayer-Rokitansky-Küster-Hauser syndrome and Silver-Russell syndrome

, 2015
Silver–Russell syndrome (SRS) and Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome are described in isolation. However, their co-occurrence has only been rarely reported.
Baynam, Gareth S., Deborah JG Mackay, Glynis Price, Karen Carpenter, Mary B Abraham, Abraham, Mary B., Mackay, Deborah J.G., Choong, Catherine S., Gareth S Baynam, Carpenter, Karen, Price, Glynis, Catherine S Choong   +11 more
core   +2 more sources

Methods for neovagina creation in women with Mayer-Rokitansky-Küster-Hauser syndrome for subsequent uterus transplantation

Biomedical Papers, 2021
Mayer-Rokitansky-Küster-Hauser syndrome is a rare female congenital anomaly that presents with an inability to have coital sexual intercourse and absolute uterine factor infertility.
Roman Chmel, Zlatko Pastor, Marta Novackova, Nikoleta Chubanovova, Roman Chmel   +4 more
doaj