MRKH Center | Mayer-Rokitansky-Küster-Hauser Syndrome

Research

Texas Children’s MRKH medical team have long been involved in researching this syndrome. 

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

Jolly A, Du H, Borel C, Chen N, Zhao S, Grochowski CM, Duan R, Fatih JM, Dawood M, Salvi S, Jhangiani SN, Muzny DM, Koch A, Rouskas K, Glentis S, Deligeoroglou E, Bacopoulou F, Wise CA, Dietrich JE, Van den Veyver IB, Dimas AS, Brucker S, Sutton VR, Gibbs RA, Antonarakis SE, Wu N, Coban-Akdemir ZH, Zhu L, Posey JE, Lupski JR. HGG Adv. 2023 Mar 29;4(3):100188. doi: 10.1016/j.xhgg.2023.100188. eCollection 2023 Jul 13.PMID: 37124138. Free PMC article

Functional characteristics of a broad spectrum of TBX6 variants in Mayer-Rokitansky-Küster-Hauser syndrome.

Ma C, Chen N, Jolly A, Zhao S, Coban-Akdemir Z, Tian W, Kang J, Ye Y, Wang Y, Koch A, Zhang Y, Qin C, Bonilla X, Borel C, Rall K, Chen Z, Jhangiani S, Niu Y, Li X, Qiu G, Zhang S, Luo G, Wu Z, Bacopoulou F, Deligeoroglou E, Zhang TJ, Rosenberg C, Gibbs RA, Dietrich JE, Dimas AS, Liu P, Antonarakis SE, Brucker SY, Posey JE, Lupski JR, Wu N, Zhu L; Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) Study Group. Genet Med. 2022 Nov;24(11):2262-2273. doi: 10.1016/j.gim.2022.08.012. Epub 2022 Sep 16.PMID: 36112137

Review of Surgical Neovagina Techniques and Management of Vaginal Stricture.

Dietrich JE. J Pediatr Adolesc Gynecol. 2022 Apr;35(2):121-126. doi: 10.1016/j.jpag.2021.10.001. Epub 2021 Oct 20.PMID: 34687902 Review

Implications of Ehlers-Danlos Syndrome in a Patient With Mayer-Rokitansky-Küster-Hauser Syndrome.

Brander EPA, Dietrich JE. J Pediatr Adolesc Gynecol. 2021 Dec;34(6):890-892. doi: 10.1016/j.jpag.2021.06.002. Epub 2021 Jun 11.PMID: 34119661

Perturbations of genes essential for Müllerian duct and Wölffian duct development in Mayer-Rokitansky-Küster-Hauser syndrome.

Chen N, Zhao S, Jolly A, Wang L, Pan H, Yuan J, Chen S, Koch A, Ma C, Tian W, Jia Z, Kang J, Zhao L, Qin C, Fan X, Rall K, Coban-Akdemir Z, Chen Z, Jhangiani S, Liang Z, Niu Y, Li X, Yan Z, Wu Y, Dong S, Song C, Qiu G, Zhang S, Liu P, Posey JE, Zhang F, Luo G, Wu Z; Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study group; Su J, Zhang J, Chen EY, Rouskas K, Glentis S, Bacopoulou F, Deligeoroglou E, Chrousos G, Lyonnet S, Polak M, Rosenberg C, Dingeldein I, Bonilla X, Borel C, Gibbs RA, Dietrich JE, Dimas AS, Antonarakis SE, Brucker SY, Lupski JR, Wu N, Zhu L. Am J Hum Genet. 2021 Feb 4;108(2):337-345. doi: 10.1016/j.ajhg.2020.12.014.PMID: 33434492. Free PMC article

Assessing the Experience of Vaginal Dilator Use and Potential Barriers to Ongoing Use among a Focus Group of Women with Mayer-Rokitansky-Küster-Hauser Syndrome.

Adeyemi-Fowode OA, Dietrich JE. J Pediatr Adolesc Gynecol. 2017 Aug;30(4):491-494. doi: 10.1016/j.jpag.2017.02.002. Epub 2017 Feb 16.PMID: 28216131

Non-obstructive müllerian anomalies.

Dietrich JE, Millar DM, Quint EH. J Pediatr Adolesc Gynecol. 2014 Dec;27(6):386-95. doi: 10.1016/j.jpag.2014.07.001. Epub 2014 Jul 17.PMID: 25438707 Review

The female reproductive tract: congenital concerns.

Dietrich JE. Horm Metab Res. 2015 May;47(5):329-34. doi: 10.1055/s-0034-1398563. Epub 2015 Feb 23.PMID: 25706288 Review

Laparoscopically assisted creation of a neovagina using the Louisville modification.

Dietrich JE, Hertweck SP, Traynor MP, Reinstine JH.Fertil Steril. 2007 Nov;88(5):1431-4. doi: 10.1016/j.fertnstert.2006.11.202. Epub 2007 Apr 3.PMID: 17408622. Free article