Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome about a case report
DOI:
https://doi.org/10.18041/2665-427X/ijeph.1.8663Keywords:
Mayer-Rokitansky-Kuster-Hauser , MRKH, septum resection, congenital disorder, anomalyAbstract
Background: Mayer-Rokitansky-Küster-Hauser syndrome (MRKH) occurs in 1:5,000 births. It is a congenital disorder in the formation of the Müllerian ducts and therefore presents a primary amenorrhea, due to absence of vagina and uterus, with functional ovaries. Secondary sexual characteristics develop, having a normal female karyotype (46, XX). Women with the condition suffer from uterine factor infertility. The uterine factor is part of multifactorial infertility in 50% of cases; but, considered as the only responsible factor, its incidence is between 5-12%Objective: Report pediatric patient MRKH anomaly with description of management options.Case presentation: A 15-year-old female, Tanner IV breast development, absent vagina and with amenorrhea. Estradiol 56 pg/ml, FSH 5.7 mIU/ml, LH 10 mIU/ml, karyotype 46,XX. Pelvic ultrasound with ovaries present, uterine remains. Simple pelvic magnetic resonance: uterine remains, ovaries present, vaginal agenesis. Renal ultrasound and chest X-ray normal. Vaginoplasty surgery, removal of uterine remains. Current sexually active life is normal.Conclusion: The diagnosis of MRKH syndrome type 1 often occurs in late adolescence, when a young woman consults because she has not started her menstrual period. A diagnosis of MRKH Type 2 may be triggered by an absent period or a wide range of other symptoms or organ-related abnormalities, sometimes at an earlier age. There are surgical and non-surgical options for treating MRKH. Depending on your individual condition, you may benefit. These patients require comprehensive, interdisciplinary management to promote their full rehabilitation.
Downloads
References
Morcel K, Guerrier D, Watrin T, Pellerin I, Levêque J. The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: clinical description and genetics. J Gynecol Obstet Biol Reprod (Paris). 2008; 37(6): 539-46. doi: 10.1016/j.jgyn.2008.07.002.
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): 2276-86. doi:10.1002/ajmg.a.36652.
Ledig S, Brucker S, Barresi G, Schomburg J, Rall K, Wieacker P. Frame shiftmutation of LHX1 is associated with Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome. Hum Reprod. 2012; 27(9): 2872-5. doi: 10.1093/humrep/des206.
Fisher K, Esham RH, Thorneycroft I. Scoliosis associated with typical Mayer-Rokitansky-Küster-Hauser syndrome. South Med J. 2000; 93(2): 243–246.
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.
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): 792–797. doi: 10.1093/humrep/dei381.
Ledig S, Schippert C, Strick R, Beckmann MW, Oppelt PG, Wieacker P. Recurrent aberrations identified by array-CGH in patients with Mayer-Rokitansky-Küster-Hauser syndrome. Fertil Steril. 2011; 95(5): 1589-94. doi: 10.1016/j.fertnstert.2010.07.1062.
Ludwig KS. The Mayer-Rokitansky-Kuster syndrome. An analysis of its morphology and embryology. Part II: embryology. Arch Gynecol Obstet. 1998; 262(1-2): 27-42. doi: 10.1007/s004040050225.
Troiano RN, McCarthy SM. Müllerian duct anomalies: imaging and clinical issues. Radiology. 2004; 233(1): 19–34. doi: 10.1148/radiol.2331020777.
Acién P, Acién M, Sánchez-Ferrer M. Complex malformations of the female genital tract: new types and revision of classification. Hum Reprod. 2004; 19(10): 2377–2384. doi: 10.1093/humrep/deh423.
Morcel K, Camborieux L; Programme de Recherches sur les Aplasies Müllériennes ; Guerrier D. Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. Orphanet J Rare Dis. 2007; 2: 13. doi: 10.1186/1750-1172-2-13.
Pizzo A, Laganà AS, Sturlese E, Retto G, Retto A, De Dominici R, Puzzolo D.Mayer-rokitansky-kuster-hauser syndrome: embryology, genetics and clinical andsurgical treatment. ISRN Obstet Gynecol. 2013; 2013: 628717. doi:10.1155/2013/628717.
Sultan C, Biason-Lauber A, Philibert P. Mayer-Rokitansky-Küster-Hauser syndrome: recent clinical and genetic findings. Gynecol Endocrinol. 2009; 25(1): 8-11. doi: 10.1080/09513590802288291.
Esfandiari N, Claessens EA, O’Brien A, Gotlieb L, Casper RF. Gestational carrier is an optimal method for pregnancy in patients with vaginal agenesis (Rokitansky syndrome). Int J Fertil Womens Med. 2004; 49: 79–82.
Tewes AC, Rall KK, Römer T, Hucke J, Kapczuk K, Brucker S, et al. Variations in RBM8A and TBX6 are associated with disorders of the müllerian ducts. Fertil Steril. 2015; 103(5): 1313-8. doi: 10.1016/j.fertnstert.2015.02.014.
Wottgen M, Brucker S, Renner SP, Strissel PL, Strick R, Kellermann A, et al. Higher incidence of linked malformations in siblings of Mayer-Rokitansky-Küster-Hauser-syndrome patients. Hum Reprod. 2008; 23(5): 1226-31. doi: 10.1093/humrep/den059.
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. doi: 10.1056/NEJMoa040533.
ACOG Committee on Adolescent Health Care. ACOG Committee Opinion Number 274, July 2002. Nonsurgical diagnosis and management of vaginal agenesis. Obstet Gynecol. 2002; 100(1): 213–216. doi: 10.1016/s0029-7844(02)02158-0.
Carranza-Lira S, Forbin K, Martinez-Chéquer JC. Rokitansky syndrome and MURCS association: clinical features and basis for diagnosis. Internat J Fertil Womens Med. 1999;44(5):250–255.
Ghi T, Casadio P, Kuleva M, Perrone AM, Savelli L, Giunchi S, et al. Accuracy of three-dimensional ultrasound in diagnosis and classification of congenital uterine anomalies. Fertil Steril. 2009; 92(2): 808–813. doi: 10.1016/j.fertnstert.2008.05.086.
Vallerie AM, Breech LL. Update in Müllerian anomalies: diagnosis, management, and outcomes. Curr Opin Obstet Gynecol. 2010; 22(5): 381–387. doi: 10.1097/GCO.0b013e32833e4a4a.
Herlin M, Bjørn AM, Rasmussen M, Trolle B, Petersen MB. Prevalence and patient characteristics of Mayer–Rokitansky–Küster–Hauser syndrome: a nationwide registry-based study. Hum Reprod. 2016; 31(10): 2384–90. doi:10.1093/humrep/dew220.
Poulakou-Rebelakou E, Tsiamis C, Tompros N, Creatsas G. The lack of a child, the loss of a throne: the infertility of the first royal couple of Greece (1833–62). J R Coll Physicians Edinb. 2011; 41 (1): 73–7. doi:10.4997/JRCPE.2011.115.
Nodale C, Ceccarelli S, Giuliano M, Cammarota M, D'Amici S, Vescarelli E, Maffucci D, Bellati F, Panici PB, Romano F, et al. Gene expression profile of patients with Mayer-Rokitansky-Küster-Hauser syndrome: New insights into the potential role of developmental pathways. PLoS One. 2014; 9: e91010. doi: 10.1371/journal.pone.0091010.
Watanabe K, Kobayashi Y, Banno K, Matoba Y, Kunitomi H, Nakamura K, et al. Recent advances in the molecular mechanisms of Mayer-Rokitansky-Küster-Hauser syndrome. Biomed Reports. 2017; 7(2): 123–127. Doi: 10.3892/br.2017.929
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: 2276–2286. doi: 10.1002/ajmg.a.36652.
Philibert P, Biason-Lauber A, Gueorguieva I, Stuckens C, Pienkowski C, Lebon-Labich B, et al. Molecular analysis of WNT4 gene in four adolescent girls with mullerian duct abnormality and hyperandrogenism (atypical Mayer-Rokitansky-Küster-Hauser syndrome) Fertil Steril. 2011; 95: 2683–2686. doi: 10.1016/j.fertnstert.2011.01.152.
Ravel C, Lorenço D, Dessolle L, Mandelbaum J, McElreavey K, Darai E, et al. Mutational analysis of the WNT gene family in women with Mayer-Rokitansky-Kuster-Hauser syndrome. Fertil Steril. 2009; 91(Suppl): 1604–1607. doi: 10.1016/j.fertnstert.2008.12.006.
Fedele L, Bianchi S, Barbieri M, Frontino G, Meroni R, Fontana E. Use of an endoscopic ultrasound probe for the evaluation of the Müllerian rudiments in patients with Rokitansky syndrome. Fertil Steril. 2008; 89(4): 981–983. doi: 10.1016/j.fertnstert.2007.04.015.
Callens N, De Cuypere G, De Sutter P, Monstrey S, Weyers S, Hoebeke P, et al. An update on surgical and non-surgical treatments for vaginal hypoplasia. Hum Reprod Update 2014;20:775–801. doi: 10.1093/humupd/dmu024.
McVearry ME, Warner WB. Use of physical therapy to augment dilator treatment for vaginal agenesis. Female Pelvic Med Reconstr Surg. 2011; 17: 153–6. doi: 10.1097/SPV.0b013e31821bcd83.
Panici PB, Bellati F, Boni T, Francescangeli F, Frati L, Marchese C. Vaginoplasty using autologous in vitro cultured vaginal tissue in a patient with Mayer-von-Rokitansky-Küster-Hauser syndrome. Hum Reprod. 2007;22(7):2025–2028. doi: 10.1093/humrep/dem096.
Giraldo F, Solano A, Mora MJ, Abehsera M, González C, Rus JA. The Malaga flap for vaginoplasty in the Mayer-Rokitansky-Küster-Hauser syndrome: experience and early-term results. Plast Reconstruct Surg. 1996; 98(2): 305–312. doi: 10.1097/00006534-199608000-00015.
Major T, Borsos A, Bacskó G. Application of minimally invasive surgery in Mayer-Rokitansky-Küster-Hauser syndrome. Acta Chir Hung. 1997;36(1–4):219–220.
Penn Medicine. Paving a New Path to Parenthood: Penn Medicine Launches First Clinical Trial for Uterine Transplant in the Northeast. Penn Medicine, The Trustees of the University of Pennsylvania: Philadelphia; 2017. https://www.pennmedicine.org/news/news-releases/2017/november/penn-medicine-launches-first-clinical-trial-for-uterine-transplant-in-the-northeast
Belleannée G, Brun JL, Trouette H, Mompart JP, Goussot JF, Brun G, et al. Cytologic findings in a neovagina created with Vecchietti’s technique for treating vaginal aplasia. Acta Cytol. 1998;42(4):945–948. doi: 10.1159/000331973.
Londra L, Chuong FS, Kolp L. Mayer-Rokitansky-Kuster-Hauser syndrome: A review. Int J Womens Health. 2015; 7: 865-70. doi: 10.2147/IJWH.S75637.
ACOG Committee Opinion. Müllerian agenesis: diagnosis, management, and treatment. Number 728. ACOG; 2018. Disponible en: https://www.acog.org/clinical/clinical-guidance/committee-opinion/articles/2018/01/mullerian-agenesis-diagnosis-management-and-treatment
Downloads
Published
Versions
- 2022-06-30 (2)
- 2022-06-30 (1)
Issue
Section
License
Copyright (c) 2022 Interdisciplinary Journal of Epidemiology and Public Health
This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.
-
Attribution — You must give appropriate credit, provide a link to the license, and indicate if changes were made. You may do so in any reasonable manner, but not in any way that suggests the licensor endorses you or your use.
-
NonCommercial — You may not use the material for commercial purposes.
-
NoDerivatives — If you remix, transform, or build upon the material, you may not distribute the modified material.
- No additional restrictions — You may not apply legal terms or technological measures that legally restrict others from doing anything the license permits.
