Case Reports
doi: 10.3109/09513590.2015.1032928.
Epub 2015 Aug 17.
Discordant Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome in identical twins - a case report and implications for reproduction in MRKH women
Affiliations
- PMID: 26291808
- DOI: 10.3109/09513590.2015.1032928
Item in Clipboard
Case Reports
Discordant Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome in identical twins - a case report and implications for reproduction in MRKH women
Gynecol Endocrinol.
2015.
Free article
Abstract
Infertility has previously been considered as an inevitable consequence of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome. With modern assisted reproductive technology (ART) techniques becoming increasingly accessible, MRKH women have the opportunity for their own genetic offspring. The availability of such technology, however, increases the importance of understanding the aetiology of this complex condition. The literature debating the relevance of genetic versus post-zygotic events in the aetiology of MRKH syndrome is reviewed in the context of this report of monozygotic twins discordant for MRKH syndrome.
Keywords: Discordance; Mayer-Rokitansky-Kuster-Hauser syndrome; monozygotic twins.
Similar articles
-
Concurrent exome-targeted next-generation sequencing and single nucleotide polymorphism array to identify the causative genetic aberrations of isolated Mayer-Rokitansky-Küster-Hauser syndrome.Hum Reprod. 2015 Jul;30(7):1732-42. doi: 10.1093/humrep/dev095. Epub 2015 Apr 29. Hum Reprod. 2015. PMID: 25924657
-
Mayer-Rokitansky-Küster-Hauser syndrome discordance in monozygotic twins: matrix metalloproteinase 14, low-density lipoprotein receptor-related protein 10, extracellular matrix, and neoangiogenesis genes identified as candidate genes in a tissue-specific mosaicism.Fertil Steril. 2015 Feb;103(2):494-502.e3. doi: 10.1016/j.fertnstert.2014.10.053. Epub 2014 Dec 6. Fertil Steril. 2015. PMID: 25492683
-
Low prevalence of male microchimerism in women with Mayer-Rokitansky-Küster-Hauser syndrome.Hum Reprod. 2019 Jun 4;34(6):1117-1125. doi: 10.1093/humrep/dez044. Hum Reprod. 2019. PMID: 31111890 Free PMC article.
-
GREB1L as a candidate gene of Mayer-Rokitansky-Küster-Hauser Syndrome.Eur J Med Genet. 2021 Mar;64(3):104158. doi: 10.1016/j.ejmg.2021.104158. Epub 2021 Feb 4. Eur J Med Genet. 2021. PMID: 33548512 Review.
-
Genetics of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome.Clin Genet. 2017 Feb;91(2):233-246. doi: 10.1111/cge.12883. Epub 2016 Nov 16. Clin Genet. 2017. PMID: 27716927 Review.
Cited by
-
The Embryological Landscape of Mayer-Rokitansky-Kuster-Hauser Syndrome: Genetics and Environmental Factors.Yale J Biol Med. 2021 Dec 29;94(4):657-672. eCollection 2021 Dec. Yale J Biol Med. 2021. PMID: 34970104 Free PMC article. Review.
-
Genetics of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: advancements and implications.Front Endocrinol (Lausanne). 2024 Apr 18;15:1368990. doi: 10.3389/fendo.2024.1368990. eCollection 2024. Front Endocrinol (Lausanne). 2024. PMID: 38699388 Free PMC article. Review.
-
Functional genomics analysis identifies loss of HNF1B function as a cause of Mayer-Rokitansky-Küster-Hauser syndrome.Hum Mol Genet. 2023 Mar 6;32(6):1032-1047. doi: 10.1093/hmg/ddac262. Hum Mol Genet. 2023. PMID: 36282544 Free PMC article.
-
Copy number variation and regions of homozygosity analysis in patients with MÜLLERIAN aplasia.Mol Cytogenet. 2018 Feb 3;11:13. doi: 10.1186/s13039-018-0359-3. eCollection 2018. Mol Cytogenet. 2018. PMID: 29434669 Free PMC article.
-
Vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association with Mayer-Rokitansky-Küster-Hauser syndrome in co-occurrence: two case reports and a review of the literature.J Med Case Rep. 2016 Dec 21;10(1):374. doi: 10.1186/s13256-016-1127-9. J Med Case Rep. 2016. PMID: 28003020 Free PMC article. Review.
Publication types
MeSH terms
Supplementary concepts
LinkOut - more resources
Full Text Sources
Medical
