Partial SHOX duplications associated with various cases of congenital uterovaginal aplasia (MRKH syndrome): A tangible evidence but a puzzling mechanism
Published on: 24th March, 2021
OCLC Number/Unique Identifier: 9272364196
The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is the most severe form of congenital malformation of the inner female reproductive tract. It is diagnosed as such when the uterus, the upper vagina and optionally the Fallopian tubes are absent. It accounts for approximately 1 in 5000 live-born females and has been classified in two subtypes: type 1 in the presence of isolated uterovaginal aplasia and type 2 when associated in various combinations with extragenital malformations of the kidneys, skeleton, heart and auditory system. Most cases of MRKH syndrome are sporadic, although a significant number of many familial cases have been reported to date. Despite numerous studies, the genetics of the syndrome remains largely unknown and appears to be heterogeneous: chromosomal abnormalities and some candidate gene variants appear to be associated with a few cases; others have been suggested but not yet confirmed. To date, mainly the GREB1L gene appears to be a serious candidate. Among the remaining hypotheses, the controversial contribution of partial duplications of the SHOX gene is still puzzling, as the deficiency of this gene is a major cause of skeletal adysplasia syndromes. We have attempted to resolve this controversy in a study of 60 MRKH cases. Our results tend to show that SHOX duplications can be the origin of a genetic mechanism responsible for MRKH syndrome.
Blog Section
Search by University/Institution
Enter your University/Institution to find colleagues at HSPI.
Ensuring author's satisfaction with
- Friendly and hassle-free publication process
- Less production time of articles
- Constructive peer-review
- Enhancing journal reputation
- Regular feedback system
- Quick response to authors' queries
Most Viewed Keywords
- UCP2
- Dentistry
- Drug abuse
- Odontogenic infection
- Zymosan-induced arthritis
- Feature processing
- Tooth microchip
- Relative bone density
- Body mass index
- Depression
- Obesity
- Köbberling-dunnigan syndrome
- Tinnitus
- Veterinary
- Pancreatic fistula
- Aging
- General physicians
- COVID-19 pandemic
- Depression
- Lip analysis
Search Articles by Country
Get all latest articles in all Heighten Science Publications Inc journals by country.
Testimonials
“It was a delightful experience publishing my manuscript with the Clinical Journal of Obstetrics and Gynecology. They offered me lots of opportunities I never had from most publishing houses and the...
Department of Agricultural Economics, Agribusiness...
Akowuah Jones Asafo
Thank you very much. I think the review process and all of what concerns the administration of the publication concerning our paper has been excellent. The nice and quick answers have been very good I...
Doris Nilsson
"An amazing experience with the Journal of Advanced Pediatrics and Child Health. Very fast blind review with pertinent corrections and suggestions. I highly recommand both the journal and the editor."
Chaimae Khairoun
You are such a nice person. Your journal co-operation is very appreciable and motivational.
Department of Biotechnology, Uttaranchal college o...
Archna Dhasmana
Once I submitted the manuscript, the response time of the reviewers was very fast. The fine-tuning of the galley proof was likewise prompt. I believe the journal provide a valuable outlet to dissemina...
Alon
The submission is very easy and the time from submission to response from the reviewers is short. Correspondence with the journal is nice and rapid.
Catrin Henriksson
I am very much pleased with the fast track publication by your reputed journal's editorial team. It is really helpful for researchers like me from developing nations. I strongly recommend your journ...
Badri Kumar Gupta
I wanna to thank clinical journal of nursing care and practice for its effort to review and publish my manuscript. This is reputable journal. Thank you!
Wollo University, Ethiopia
Atsedemariam Andualem
I think that Heighpubs very good. You are very helpful. Thank you for everything.
Ana Ribeiro
This is to specify that I have had an extensive and detailed interaction with the Editorial team of Annals of Clinical Gastroenterology and Hepatology, USA, lasting over a significant period of time. ...
New Delhi, India