Syndrome Mayer-Rokitansky-Küster-Hauser – uterine and vaginal agenesis: current knowledge and therapeutic options
Authors:
R. Chmel jr.; Z. Pastor
; M. Mužík; Tomáš Brtnický
; M. Nováčková
Authors place of work:
Gynekologicko-porodnická klinika 2. LF UK a FN Motol, Praha, přednosta MUDr. R. Chmel, Ph. D., MHA
Published in the journal:
Ceska Gynekol 2019; 84(5): 386-392
Category:
Přehledový článek
Summary
Objective: Evaluation of existing knowledge of etiopathogenesis, clinical manifestations and treatment options to increase quality of life in women with Mayer-Rokitansky-Küster-Hauser syndrome (MRKH).
Design: Review article.
Setting: Department of Obstetrics and Gynaecology, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague.
Methods: Literature search using the Web of Science, Google Scholar and Medline databases with keywords (absolute uterine infertility factor, AUFI, Mayer-Rokitansky-Küster-Hauser syndrome, MRKH, uterine transplantation) and analysis of articles published in impact and reviewed journals.
Results: MRKH syndrome is defined as congenital agenesis of the upper two-thirds of vagina and uterus in women with normal secondary sexual characteristics and female karyotype (46, XX). The incidence of the syndrome is 1 : 4500 births of female sex children. It is the second most common cause of primary amenorrhea. Recent research has focused on elucidating the genetic origin of the disease, focusing on the research of candidate genes that could be participating in the genesis of Müllerian ducts and their derivatives.
Conclusion: MRKH syndrome now appears as a multifactorial congenital developmental defect based on a combination of genetic predisposition and environmental factors. Modern medicine can help girls with MRKH syndrome to a quality sexual life. It is also able to offer different possibilities of achieving motherhood. In the future, however, further research is needed, in particular on the etiology and pathogenesis of this syndrome to detect a possible genetic basis of the disease.
Keywords:
absolute uterine factor infertility – AUFI – Mayer-Rokitansky-Küster-Hauser syndrome – MRKH – uterus transplantation
Zdroje
1. Benedetti Panici, P., Maffucci, D., Ceccarelli, S., et al. Autologous in vitro cultured vaginal tissue for vaginoplasty in women with Mayer-Rokitansky-Küster-Hauser syndrome: anatomic and functional results. J Minim Invasive Gynecol, 2015, 22, 2, p. 205–211.
2. Biason-Lauber, A., Konrad, D., Navratil, F., Schoenle, EJ. A WNT4 mutation associated with Müllerian-duct regression and virilization in a 46, XX woman. N Engl J Med, 2004, 351, 8, p. 792–798.
3. Boehmer, AL., Brinkmann, O., Brüggenwirth, H., et al. Genotype versus phenotype in families with androgen insensitivity syndrome. J Clin Endocrinol Metab, 2001, 86, 9, p. 4151–4160.
4. Brännström, M., Johannesson, L., Bokström, H., et al. Livebirth after uterus transplantation. Lancet, 2015, 385, 9968, p. 607–616.
5. Cai, B., Zhang, JR., Xi, XW., et al. Laparoscopically assisted sigmoid colon vaginoplasty in women with Mayer-Rokitansky-Kuster-Hauser syndrome: feasibility and short-term results. BJOG, 2007, 114, 12, p. 1486–1492.
6. Callens, N., De Cuypere, G., De Sutter, P., et al. An update on surgical and non-surgical treatments for vaginal hypoplasia. Hum Reprod Update, 2014, 20, 5, p. 775–801.
7. Clément-Ziza, M., Khen, N., Gonzales, J., et al. Exclusion of WNT4 as a major gene in Rokitansky-Küster-Hauser anomaly. Am J Med Genet A, 2005, 137, 1, p. 98–99.
8. Edmonds, K., Rose, GL., Lipton, MG., et al. Mayer-Rokitansky-Küster-Hauser syndrome: a review of 245 consecutive cases managed by multidisciplinary approach with vaginal dilators. Fertil Steril, 2012, 97, p. 686–690.
9. Friedler, S., Grin, L., Liberti, G., et al. The reproductive potential of patients with Mayer-Rokitansky-Kuster-Hauser syndrome using gestational surrogacy: a systematic review. Reprod Biomed Online, 2016, 32, p. 54–61.
10. Goldfarb, JM., Austin, C., Peskin, B., et al. Fifteen years experience with an in-vitro-fertilization surrogate gestational pregnancy program. Hum Reprod, 2000, 15, 5, p. 1075–1078.
11. Griffin, JE., Edwards, C., Madden, JD., et al. Congenital absence of the vagina. The Mayer-Rokitansky-Kuster-Hauser syndrome. Ann Intern Med, 1976, 85, 2, p. 224–236.
12. Guerrier, D., Mouchel, T., Pasquier, L., Pellerin, I. The Mayer-Rokitansky-Küster-Hauser syndrome (congenital absence of uterus and vagina) – phenotypic manifestations and genetic approaches. J Negat Results Biomed, 2006, 5, 1. doi: 10.1186/1477-5751-5-1.
13. Hauser, GA., Schreiner, WE. Mayer-Rokitansky-Kuester syndrome. Rudimentary solid bipartite uterus with solid vagina. Schweiz Med Wochenschr, 1961, 91, p. 381–384.
14. Hoffmann, W., Grospietsch, G., Kuhn, W. Thalidomide and female genital malformations. Lancet, 1976, 2, 7989, p. 794.
15. Charvát, M., Hořejsí, J., Teslík, L. Laparoskopická neoplastika pochvy – modifikace Vecchiettiho operace. Čes Gynek, 2001, 66, 4, s. 247–251.
16. Chmel, R., Novackova, M., Pastor, Z., Fronek, J. The interest of women with Mayer-Rokitansky-Küster-Hauser syndrome and laparoscopic Vecchietti neovagina in uterus transplantation. J Pediatr Adolesc Gynecol, 2018, 31, 5, p. 480–484.
17. Jain, N., Sircar, R. Laparoscopic management of congenital cervico-vaginal agenesis. J Gynecol Endosc Surg, 2011, 2, 2, p. 94–96.
18. Jones, HW.Jr., Mermut, S. Familial occurrence of congenital absence of the vagina. Am J Obstet Gynecol, 1972, 114, 8, p. 1100–1101.
19. Lardenoije, C., Aardenburg, R., Mertens, H. Imperforate hymen: a cause of abdominal pain in female adolescents. BMJ Case Rep, 2009. doi: 10.1136/bcr.08.2008.0722.
20. Ledig, S., Wieacker, P. Clinical and genetic aspects of Mayer-Rokitansky-Küster-Hauser syndrome. Med Genet, 2018, 30, 1, p. 3–11.
21. Letterie, GS., Vauss, N. Müllerian tract abnormalities and associated auditory defects. J Reprod Med, 1991, 36, 11, p. 765–768.
22. Martínez-Frías, ML., Bermejo, E., Rodríguez-Pinilla, E., et al. Epidemiological analysis of outcomes of pregnancy in gestational diabetic mothers. Am J Med Genet, 1998, 78, 2, p. 140–145.
23. Miao, Y., Wen, J., Huang, L., et al. Diagnosis and management of ovarian tumor in Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. Biomed Res Int, 2018, 2369430. doi: 10.1155/2018/2369430.
24. Morcel, K., Guerrier, D., Watrin, T., et al. The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: clinical description and genetics. J Gynecol Obstet Biol Reprod, 2008, 37, 6, p. 539–546.
25. Nadarajah, S., Quek, J., Rose, GL., et al. Sexual function in women treated with dilators for vaginal agenesis. J Pediatr Adolesc Gynecol, 2005, 18, p. 39–42.
26. Oppelt, P., Renner, SP., Kellermann, A., et al. Clinical aspects of Mayer-Rokitansky-Kuester-Hauser syndrome: recommendations for clinical diagnosis and staging. Hum Reprod, 2006, 21, 3, p. 792–797.
27. Pastor, Z., Fronek, J., Novackova, M., Chmel, R. Sexual life of women with Mayer-Rokitansky-Küster-Hauser syndrome after laparoscopic Vecchietti vaginoplasty. Sex Med, 2017, 5, 2, p. 106–113.
28. Patnaik, SS., Brazile, B., Dandolu, V., et al. Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: a historical perspective. Gene, 2015, 555, 1, p. 33–40.
29. Pittock, ST., Babovic-Vuksanovic, D., Lteif, A. Mayer-Rokitansky-Küster-Hauser anomaly and its associated malformations. Am J Med Genet A, 2005, 135, 3, p. 314–316.
30. Pizzo, A., Lagana, AS., Sturlese, E., et al. Mayer-Rokitansky-Kuster-Hauser syndrome: embryology, genetics and clinical and surgical treatment. ISRN Obstet Gynecol, 2013, 628717. doi: 10.1155/2013/628717.
31. Poland, ML., Evans, TN. Psychologic aspects of vaginal agenesis. J Reprod Med, 1985, 30, 4, p. 340–344.
32. Preibsch, H., Rall, K., Wietek, BM., et al. Clinical value of magnetic resonance imaging in patients with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: diagnosis of associated malformations, uterine rudiments and intrauterine endometrium. Eur Radiol, 2014, 24, 7, p. 1621–1627.
33. Rahman, H., Trehan, N., Singh, S., Goyal, M. Transverse vaginal septum with secondary infertility: a rare case. J Minim Invasive Gynecol, 2016, 23, 5, p. 673–674.
34. Raziel, A., Friedler, S., Gidoni, Y., et al. Surrogate in vitro fertilization outcome in typical and atypical forms of Mayer-Rokitansky-Kuster-Hauser syndrome. Hum Reprod, 2012, 27, 1, p. 126–130.
35. Strübbe, EH., Lemmens, JA., Thijn, CJ., et al. Spinal abnormalities and the atypical form of the Mayer-Rokitansky-Küster-Hauser syndrome. Skeletal Radiol, 1992, 21, 7, p. 459–462.
36. Tiker, F., Yildirim, SV., Barutçu, O., Bagiş, T. Familial müllerian agenesis. Turk J Pediatr, 2000, 42, 4, p. 322–324.
37. Timmreck, LS., Gray, MR., Handelin, B., et al. Analysis of cystic fibrosis transmembrane conductance regulator gene mutations in patients with congenital absence of the uterus and vagina. Am J Med Genet A, 2003, 120A, p. 72–76.
38. Troiano, RN., McCarthy, SM. Mullerian duct anomalies: imaging and clinical issues. Radiology, 2004, 233, 1, p. 19–34.
39. Williams, JK., Lake, M., Ingram, JM. The bicycle seat stool in the treatment of vaginal agenesis and stenosis. J Obstet Gynecol Neonatal Nurs, 1985, 14, 2, p. 147–150.
Štítky
Dětská gynekologie Gynekologie a porodnictví Reprodukční medicínaČlánek vyšel v časopise
Česká gynekologie
2019 Číslo 5
Nejčtenější v tomto čísle
- Syndrom Mayer-Rokitansky-Küster-Hauser – ageneze dělohy a pochvy: aktuální znalosti a terapeutické možnosti
- ERAS protokol u onkogynekologických operací
- Screening preeklampsie v I. trimestru těhotenství
- Ruptura dělohy v graviditě