Advances in Clinical and Experimental Medicine

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Advances in Clinical and Experimental Medicine

2020, vol. 29, nr 4, April, p. 505–511

doi: 10.17219/acem/118850

Publication type: review

Language: English

License: Creative Commons Attribution 3.0 Unported (CC BY 3.0)

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Mayer–Rokitansky–Küster–Hauser syndrome as an interdisciplinary problem

Magdalena Liszewska-Kapłon1,A,B,C,D, Mateusz Strózik1,2,A,B,C,D, Łukasz Kotarski1,A,B, Maciej Bagłaj3,E,F, Lidia Hirnle1,E,F

1 1st Department and Clinic of Gynecology and Obstetrics, Wroclaw Medical University, Poland

2 Division of Histology and Embryology, Department of Human Morphology and Embryology, Wroclaw Medical University, Poland

3 Department of Pediatric Surgery and Urology, Wroclaw Medical University, Poland

Abstract

The Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome, also known as Müllerian agenesis or aplasia, is a congenital disease manifested by the aplasia of the uterus and the upper 2/3 of the vagina; its incidence is 1 in 4,000–5,000 female live births. We can distinguish 2 types of the MRKH syndrome: type I, which is characterized by an isolated absence of 2/3 of the vagina and uterus; and type II or MURCS (Müllerian duct aplasia, unilateral renal agenesis and cervicothoracic somite anomalies), which is also associated with other symptoms. The treatment of the MRKH syndrome patients aims at creating a neovagina and enabling sexual intercourse. Non-surgical techniques are the first-choice methods, and more than 90% of patients notice an anatomical and functional improvement if they are well-prepared emotionally. If non-surgical treatment does not bring about the expected results, a surgical procedure remains an option. The surgical method is mainly determined by the surgeon’s experience. There are a few types of operations, though none of them seems superior to others. The next challenge is to provide these patients with a chance to become parents. Nowadays, a uterine transplant, a surrogate or adoption are the available solutions. An interdisciplinary approach is required, and the treatment should consist of medical and psychological support. This review presents the current knowledge about the MRKH syndrome with regard to the current methods of non-surgical and surgical treatment as well as a summary of the associated psychological problems.

Key words

MRKH syndrome, treatment, surgical, psychological aspects

References (78)

  1. Petrozza JC. Mayer–Rokitansky–Küster–Hauser syndrome and associated malformations: Are they as common as we think? Fertil Steril. 2016;106(5):1047–1048.
  2. Patel V, Hakim J, Gomez-Lobo V, Amies Oelschlager AM. Providers’ experiences with vaginal dilator training for patients with vaginal agenesis. J Pediatr Adolesc Gynecol. 2018;31(1):45–47.
  3. Boruah DK, Sanyal S, Gogoi BB, et al. Spectrum of MRI appearance of Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome in primary amenorrhea patients. J Clin Diagnostic Res. 2017;11(7):TC30–TC35.
  4. Kobayashi A, Behringer RR. Developmental genetics of the female reproductive tract in mammals. Nat Rev Genet. 2003;4(12):969–980.
  5. Watanabe K, Kobayashi Y, Banno K, et al. Recent advances in the molecular mechanisms of Mayer–Rokitansky–Küster–Hauser syndrome. Biomed Rep. 2017;7(2):123–127.
  6. Herlin M, Højland AT, Petersen MB. Familial occurrence of Mayer–Rokitansky–Küster–Hauser syndrome: A case report and review of the literature. Am J Med Genet A. 2014;164A(9):2276–2286.
  7. Sultan C, Biason-Lauber A, Philibert P. Mayer–Rokitansky–Küster–Hauser syndrome: Recent clinical and genetic findings. Gynecol Endocrinol. 2009;25(1):8–11.
  8. Eun Kwon H, Taylor HS. The role of HOX genes in human implantation. Ann N Y Acad Sci. 2004;1034(1):1–18.
  9. 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):792–798.
  10. Philibert P, Biason-Lauber A, Rouzier R, et al. Identification and functional analysis of a new WNT4 gene mutation among 28 adolescent girls with primary amenorrhea and Müllerian duct abnormalities: A French collaborative study. J Clin Endocrinol Metab. 2008;93(3):895–900.
  11. Nakum A, Kumawat K, Chauhan H, Parikh JV. Mayer–Rokitansky–Küstner–Hauser (MRKH) syndrome type 2: Atypical presentation of rare case. Natl J Med Res. 2013;3(4):409–411.
  12. Oppelt PG, Lermann J, Strick R, et al. Malformations in a cohort of 284 women with Mayer–Rokitansky–Küster–Hauser syndrome (MRKH). Reprod Biol Endocrinol. 2012;10:57.
  13. Kapczuk K, Iwaniec K, Friebe Z, Kędzia W. Congenital malformations and other comorbidities in 125 women with Mayer–Rokitansky–Küster–Hauser syndrome. Eur J Obstet Gynecol Reprod Biol. 2016;207:45–49.
  14. Pan HX, Luo GN. Phenotypic and clinical aspects of Mayer–Rokitansky–Küster–Hauser syndrome in a Chinese population: An analysis of 594 patients. Fertil Steril. 2016;106(5):1190–1194.
  15. Chandiramani M, Gardiner CA, Padfield CJ, Ikhena SE. Mayer–Rokitansky–Küster–Hauser syndrome. J Obstet Gynaecol. 2006;26(7):603–606.
  16. Strübbe EH, Cremers CW, Willemsen WN, Rolland R, Thijn CJ. The Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome without and with associated features: Two separate entities? Clin Dysmorphol. 1994;3(3):192–199.
  17. Deng S, He Y, Chen N, Zhu L. Spectrum of type I and type II syndromes and associated malformations in Chinese patients with Mayer–Rokitansky–Küster–Hauser syndrome: A retrospective analysis of 274 cases. J Pediatr Adolesc Gynecol. 2019;32(3):284–287.
  18. Giusti S, Fruzzetti E, Perini D, Fruzzetti F, Giusti P, Bartolozzi C. Diagnosis of a variant of Mayer–Rokitansky–Küster–Hauser syndrome: Useful MRI findings. Abdom Imaging. 2011;36(6):753–755.
  19. Marsh CA, Will MA, Smorgick N, Quint EH, Hussain H, Smith YR. Uterine remnants and pelvic pain in females with Mayer–Rokitansky–Küster–Hauser syndrome. J Pediatr Adolesc Gynecol. 2013;26(3):199–202.
  20. Chandini M, Hari Babu Ramineni, Rakesh Y, Babu K, Vidyadhara S. Mayer–Rokitansky–Küster–Hauser syndrome with gonadohypoplasia: A rare case report. Int J Res Med Sci. 2016;4(7):3045–3047.
  21. Hoo PS, Norhaslinda AR, Shah Reza JN. Rare case of leiomyoma and adenomyosis in Mayer–Rokitansky–Küster–Hauser syndrome. Case Rep Obstet Gynecol. 2016;2016:3725043.
  22. Amaratunga T, Kirkpatrick I, Yan Y, Karlicki F. Ectopic pelvic fibroid in a woman with uterine agenesis and Mayer–Rokitansky–Küster–Hauser syndrome. Ultrasound Q. 2017;33(3):237–241.
  23. Kulkarni MM, Deshmukh SD, Hol K, Nene N. A rare case of Mayer–Rokitansky–Küster–Hauser syndrome with multiple leiomyomas in hypoplastic uterus. J Hum Reprod Sci. 2015;8(4):242–244.
  24. Leduc B, van Campenhout J, Simard R. Congenital absence of the vagina. Observations on 25 cases. Am J Obstet Gynecol. 1968;100(4):512–520.
  25. Sarto GE. Cytogenetics of fifty patients with primary amenorrhea. Am J Obstet Gynecol. 1974;119(1):14–23.
  26. Shane JM, Wilson EA, Schiff I, Naftolin F. A preliminary report on gonadotropin responsivity in the Mayer–Rokitansky–Küster–Hauser syndrome (congenitally absent uterus). Am J Obstet Gynecol. 1977;127(3):326–327.
  27. Lermann J, Mueller A, Wiesinger E, et al. Comparison of different diagnostic procedures for the staging of malformations associated with Mayer–Rokitansky–Küster–Hauser syndrome. Fertil Steril. 2011;96(1):156–159.
  28. Muñoz MdM, Noguero R, Martin S. Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome. Diagnostic and therapeutic approach of a rare disease. Colomb Med. 2011;42(3):369–372.
  29. 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):1621–1627.
  30. Wang Y, Lu J, Zhu L, et al. Evaluation of Mayer–Rokitansky–Küster–Hauser syndrome with magnetic resonance imaging: Three patterns of uterine remnants and related anatomical features and clinical settings. Eur Radiol. 2017;27(12):5215–5224.
  31. Wang Y, Lu J, Zhu L, et al. Increased incidence of abnormally located ovary in patients with Mayer–Rokitansky–Küster–Hauser syndrome: A retrospective analysis with magnetic resonance imaging. Abdom Radiol (NY). 2018;43(11):3142–3146.
  32. Mendoza N, Motos MA. Androgen insensitivity syndrome. Gynecol Endocrinol. 2013;29(1):1–5.
  33. Santos V, Marçal M, Amaral D, Pina R, Lopes L, Fonseca G. Turner syndrome. From child to adult... A multidisciplinary approach [in Portuguese]. Acta Med Port. 23(5):873–882.
  34. Kim SM, Rhee JH. A case of 17 alpha-hydroxylase deficiency. Clin Exp Reprod Med. 2015;42(2):72–76.
  35. Fontenele R, Costa-Santos M, Kater CE. 17α-hydroxylase deficiency is an underdiagnosed disease: High frequency of misdiagnoses in a large cohort of Brazilian patients. Endocr Pract. 2018;24(2):170–178.
  36. 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):775–801.
  37. Heller-Boersma JG, Edmonds DK, Schmidt UH. A cognitive behavioural model and therapy for utero-vaginal agenesis (Mayer–Rokitansky–Küster–Hauser syndrome: MRKH). Behav Cogn Psychother. 2009;37(4):449–467.
  38. Gupta M, Kharb V. MRKH syndrome: Psychological disturbances and suicide. J Indian Acad Forensic Med. 2012;34(1):86–88.
  39. Committee on Adolescent Health Care. ACOG Committee opinion No. 728: Müllerian agenesis: Diagnosis, management, and treatment. Obstet Gynecol. 2018;131(1):e35–e42.
  40. Poland ML, Evans TN. Psychologic aspects of vaginal agenesis. J Reprod Med. 1985;30(4):340–344.
  41. Beisert MJ, Szymańska-Pytlińska ME, Kapczuk K, Chodecka A, Walczyk-Matyja K, Kędzia W. Sexual activity of women with Mayer–Rokitansky–Küster–Hauser syndrome (MRKHS) – preliminary study. Ginekol Pol. 2015;86(9):648–652.
  42. Freundt I, Toolenaar TA, Huikeshoven FJ, Jeekel H, Drogendijk AC. Long-term psychosexual and psychosocial performance of patients with a sigmoid neovagina. Am J Obstet Gynecol. 1993;169(5):1210–1214.
  43. Holt R, Slade P. Living with an incomplete vagina and womb: An interpretative phenomenological analysis of the experience of vaginal agenesis. Psychol Health Med. 2003;8(1):19–33.
  44. David A, Carmil D, Bar-David E, Serr DM. Congenital absence of the vagina. Clinical and psychologic aspects. Obstet Gynecol. 1975;46(4):407–409.
  45. Delaine M, Ohl J. Sexual activity and quality of life in patients with Mayer–Rokitansky–Küster–Hauser [in French]. Gynecol Obstet Fertil. 2014;42(12):865–871.
  46. Cheikhelard A, Bidet M, Baptiste A, et al. Surgery is not superior to dilation for the management of vaginal agenesis in Mayer–Rokitansky–Küster–Hauser syndrome: A multicenter comparative observational study in 131 patients. Am J Obstet Gynecol. 2018;219(3):281.e1–281.e9.
  47. Frank RT. The formation of an artificial vagina without operation. Am J Obstet Gynecol. 1938;35(6):1053–1055.
  48. Ingram JM. The bicycle seat stool in the treatment of vaginal agenesis and stenosis: A preliminary report. Am J Obstet Gynecol. 1981;140(8):867–873.
  49. McQuillan SK, Grover SR. Dilation and surgical management in vaginal agenesis: A systematic review. Int Urogynecol J. 2014;25(3):299–311.
  50. Adeyemi-Fowode OA, Dietrich JE. 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. J Pediatr Adolesc Gynecol. 2017;30(4):491–494.
  51. Edmonds DK, Rose GL, Lipton MG, Quek J. Mayer–Rokitansky–Küster–Hauser syndrome: A review of 245 consecutive cases managed by a multidisciplinary approach with vaginal dilators. Fertil Steril. 2012;97(3):686–690.
  52. Both S, Kluivers K, Ten Kate-Booij M, Weijenborg P. Sexual response in women with Mayer–Rokitansky–Küster–Hauser syndrome with a non-surgical neo-vagina. Am J Obstet Gynecol. 2018;219(3):283.e1–e283.e8.
  53. Ketheeswaran A, Morrisey J, Abbott J, Bennett M, Dudley J, Deans R. Intensive vaginal dilation using adjuvant treatments in women with Mayer–Rokitansky–Küster–Hauser syndrome: Retrospective cohort study. Aust N Z J Obstet Gynaecol. 2018;58(1):108–113.
  54. Georgas K, Belgrano V, Andréasson M, Elander A, Selvaggi G. Bowel vaginoplasty: A systematic review. J Plast Surg Hand Surg. 2018;52(5):265–273.
  55. Özkan Ö, Özkan Ö, Çinpolat A, et al. Vaginal reconstruction with the modified rectosigmoid colon: Surgical technique, long-term results and sexual outcomes. J Plast Surg Hand Surg. 2018;52(4):210–216.
  56. van der Sluis WB, Bouman MB, Meijerink WJHJ, et al. Diversion neovaginitis after sigmoid vaginoplasty: Endoscopic and clinical characteristics. Fertil Steril. 2016;105(3):834–839.e1.
  57. Djordjevic ML, Stanojevic DS, Bizic MR. Rectosigmoid vaginoplasty: clinical experience and outcomes in 86 cases. J Sex Med. 2011;8(12):3487–3494.
  58. Kisku S, Varghese L, Kekre A, et al. Bowel vaginoplasty in children and young women: An institutional experience with 55 patients. Int ­Urogynecol J. 2015;26(10):1441–1448.
  59. Zhang M, Li S, Huang X, et al. Transumbilical single-incision laparoscopic vaginoplasty hybrid transperineal approach using a sigmoid colon segment: Initial twenty-five cases. Int Urol Nephrol. 2016;48(9):1401–1406.
  60. Bouman MB, Buncamper ME, van der Sluis WB, Meijerink WJ. Total laparoscopic sigmoid vaginoplasty. Fertil Steril. 2016;106(7):e22–e23.
  61. Boztosun A, Olgan S. Robotic sigmoid vaginoplasty in an adolescent girl with Mayer–Rokitansky–Küster–Hauser syndrome. Female Pelvic Med Reconstr Surg. 2016;22(5):e32–e35.
  62. Gauthier T, Lavoue V, Piver P, et al. Which neovagina reconstruction procedure for women with Mayer–Rokitansky–Küster–Hauser syndrome in the uterus transplantation era? Editorial from the French Uterus Transplantation Committee (CETUF) of CNGOF. J Gynecol Obstet Hum Reprod. 2018;47(4):175–176.
  63. Brucker SY, Gegusch M, Zubke W, Rall K, Gauwerky JF, Wallwiener D. Neovagina creation in vaginal agenesis: Development of a new laparoscopic Vecchietti-based procedure and optimized instruments in a prospective comparative interventional study in 101 patients. Fertil Steril. 2008;90(5):1940–1952.
  64. Rall K, Schickner MC, Barresi G, et al. Laparoscopically assisted neovaginoplasty in vaginal agenesis: A long-term outcome study in 240 patients. J Pediatr Adolesc Gynecol. 2014;27(6):379–385.
  65. Han SE, Go JY, Choi DS, Seo GH, Lim SY. Experience with specially designed pored polyacetal mold dressing method used in McIndoe-style vaginoplasty. J Pediatr Urol. 2017;13(6):621.e1–e621.e6.
  66. Idrees MT, Deligdisch L, Altchek A. Squamous papilloma with hyperpigmentation in the skin graft of the neovagina in Rokitansky syndrome: Literature review of benign and malignant lesions of the neovagina. J Pediatr Adolesc Gynecol. 2009;22(5):e148–e155.
  67. Davydov SN, Zhvitiashvili OD. Formation of vagina (colpopoiesis) from peritoneum of Douglas pouch. Acta Chir Plast. 1974;16(1):35–41.
  68. Le A, Wang Z, Shan L, Xiao T, Luo G, Shen Y. Analysis of rectal injuries resulting from laparoscopic peritoneal vaginoplasty (Luohu operation). Clin Exp Obstet Gynecol. 2016;43(2):250–253.
  69. Creatsas G, Deligeoroglou E, Makrakis E, Kontoravdis A, Papadimitriou L. Creation of a neovagina following Williams vaginoplasty and the Creatsas modification in 111 patients with Mayer–Rokitansky–Küster–Hauser syndrome. Fertil Steril. 2001;76(5):1036–1040.
  70. Creatsas G, Deligeoroglou E. Vaginal aplasia and reconstruction. Best Pract Res Clin Obstet Gynaecol. 2010;24(2):185–191.
  71. Torres-de la Roche LA, Devassy R, Gopalakrishnan S, et al. Plastic neo-vaginal construction in Mayer–Rokitansky–Küster–Hauser syndrome: An expert opinion paper on the decision-making treatment process. GMS Interdiscip Plast Reconstr Surg DGPW. 2016;5:Doc08.
  72. Friedler S, Grin L, Liberti G, Saar-Ryss B, Rabinson Y, Meltzer S. The reproductive potential of patients with Mayer–Rokitansky–Küster–Hauser syndrome using gestational surrogacy: A systematic review. Reprod Biomed Online. 2016;32(1):54–61.
  73. Stadnicka G, Łepecka-Klusek C, Pilewska-Kozak AB, Pawłowska-Muc AK, Bałduga-Bałanda-Bałdyga A. The care of patients with Mayer–Rokitansky–Küster–Hauser syndrome (MRKH) [in Polish]. J Educ Health Sport. 2017;7(3):361–370.
  74. Suganuma N, Hayashi A, Kisu I, Banno K, Hara H, Mihara M. Uterus transplantation: Toward clinical application in Japan. Reprod Med Biol. 2017;16(4):305–313.
  75. 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):480–484.
  76. Testa G, McKenna GJ, Gunby RT Jr, et al. First live birth after uterus transplantation in the United States. Am J Transplant. 2018;18(5):1270–1274.
  77. Brännström M, Dahm Kähler P, Greite R, Mölne J, Díaz-García C, Tullius SG. Uterus transplantation: A rapidly expanding field. Transplantation. 2018;102(4):569–577.
  78. Search of: MRKH – list results. Home - ClinicalTrials.gov. https://clinicaltrials.gov/ct2/results?cond=MRKH&term=&cntry=&state=&city=&dist=. Accessed February 19, 2029.
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