Mayer-Rokitansky-Küster-Hauser syndrome type II: a case report and literature review
DOI:
https://doi.org/10.18203/2320-1770.ijrcog20240818Keywords:
MRKH syndrome, Primary amenorrhea, MRIAbstract
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a genetic disease consisting of absent uterus and upper part of vagina, and is seen in women with a normal karyotype (46, XX). It is one of the rare diseases where the estimated prevalence is 1:5000. Most patients present with primary amenorrhea at a young age, with or without bone or kidney abnormalities. The associated psychological aspects of this disease often enforce the need for a prompt diagnosis and treatment. The preferred method for preoperative evaluation of these patients is magnetic resonance imaging (MRI).
References
Timmreck LS, Reindollar RH. Contemporary issues in primary amenorrhea. Obstet Gynecol Clin North Am. 2003;30(2):287-302.
Aittomäki K, Eroila H, Kajanoja P. A population-based study of the incidence of Müllerian aplasia in Finland. Fertil Steril. 2001;76(3):624-5.
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.
Herlin MK, Petersen MB, Brännström M. Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: a comprehensive update. Orphanet J Rare Dis. 2020;15(1):214.
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.
Williams LS, Demir Eksi D, Shen Y, Lossie AC, Chorich LP, Sullivan ME, et al. Genetic analysis of Mayer-Rokitansky-Kuster-Hauser syndrome in a large cohort of families. Fertil Steril. 2017;108(1):145-51.
Ernst ME, Sandberg DE, Keegan C, Quint EH, Lossie AC, Yashar BM. The Lived Experience of MRKH: Sharing Health Information with Peers. J Pediatr Adolesc Gynecol. 2016;29(2):154-8.
Weijenborg PTM, Kluivers KB, Dessens AB, Kate-Booij MJ, Both S. Sexual functioning, sexual esteem, genital self-image and psychological and relational functioning in women with Mayer-Rokitansky-Küster-Hauser syndrome: a case-control study. Hum Reprod. 2019;34(9):1661-73.
