Mayer-Rokitansky-Küster-Hauser syndrome with aplasia of the uterus, upper two-thirds of the vagina, and right kidney, first identified in a 23-year-old female: A rare case report
DOI:
https://doi.org/10.37800/RM.3.2025.567Abstract
Relevance: Mayer-Rokitansky-Küster-Hauser syndrome (MRKH) is a rare congenital disorder characterized by underdevelopment or absence of the uterus and upper vagina, with normal development of the external genitalia and ovaries. In some cases, it may occur in combination with anomalies of other organs and systems.
The study aimed to describe a rare case of Mayer-Rokitansky-Küster-Hauser syndrome type 2 first diagnosed in a 23-year-old woman in Kazakhstan.
Materials and Methods: The article presents a description of the clinical picture and results of diagnostic studies of a rare clinical case of MRKH syndrome type 2. A literature search was also conducted in the PubMed, Web of Science, and the RSCI databases by keywords and medical subject headings among materials published from 2015 to 2025.
Results: According to the results of the MRI examination of the pelvic organs, the patient was diagnosed with aplasia of the uterus and the upper 2/3 of the vagina and the right kidney. Additional examination revealed extragenital pathology.
Conclusion: A search for official data on the prevalence of this syndrome in Kazakhstan yielded no results. There is currently insufficient information available about MRKH syndrome within the global scientific community, and many questions remain unanswered. In connection with this, the clinical case with a diagnosis of MRKH type 2, with a detailed description of the clinical picture presented to your attention, will hopefully contribute to the understanding of this pathology. The diversity of the clinic with damage to many organs and systems in childhood, before the detection of gynecological anomalies, can be the reason for the initial appeal for medical help not to a gynecologist, but to such specialists as an orthopedic traumatologist, pediatrician, surgeon, neurologist, which requires awareness among them about MRKH syndrome type 2.
References
1. 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.
https://doi.org/10.1016/j.jpag.2018.07.007
2. Кругляк ДА, Буралкина НА, Ипатова МВ, Батырова ЗК, Уварова ЕВ. Аплазия влагалища и матки (синдром Майера-Рокитанского-Кюстнера-Хаузера): этиология, патогенетические аспекты и теории формирования порока (обзор литературы). Гинекология. 2018;20(2):64-66.
Kruglyak DA, Buralkina NA, Ipatova MV, Batyrova ZK, Uvarova EV. Aplasia of the vagina and uterus (Mayer-Rokitansky-Küster-Hauser syndrome): etiology, pathogenetic aspects and theories of defect formation (literature review). Gynecology. 2018;20(2):64-66. https://doi.org/10.26442/2079-5696_2018.2.64-66
3. Cospain A, Dion L, Bidet M, Nyangoh Timoh K, Quelin C, Carton I, Lavillaureix A, Morcel K, Rollier P, Pasquier L, Nouyou B, Odent S, Guerrier D, Launay E, Belaud Rotureau MA, Fradin M, Jaillard S, Lavoué V. Optimizing care for MRKH patients: From malformation screening to uterus transplantation eligibility. Acta Obstet Gynecol Scand. 2025;104(3):514-521. https://doi.org/10.1111/aogs.14985
4. Батырова ЗК, Уварова ЕВ, Кумыкова ЗХ, Кругляк ДА. Психологические проблемы у девочек подростков с синдромом Майера-Рокитанского-Кюстера-Хаузера. Репродуктивное здоровье детей и подростков. 2020;16(2):78-84. Batyrova ZK, Uvarova EV, Kumykova ZK, Kruglyak DA. Psychological problems in adolescent girls with Mayer-Rokitansky-Kuster-Hauser syndrome. Pediatric and Adolescent Reproductive Health. 2020;16(2):78-84. Russian.
https://doi.org/10.33029/1816-2134-2020-16-1-78-84
5. Herlin MK, Petersen MB, Brännström M. Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: a comprehensive update. Orphanet J Rare Dis. 2020;15(1):214.
https://doi.org/10.1186/s13023-020-01491-9
6. Адамян РТ, Блбулян АК, Абрамян РА, Абрамян ЛР, Абрамян ГР, Гардян ГК, Блбулян ДА. Синдром Майера-Рокитанского-Кюстера-Хаузера. Акушерство, Гинекология и Репродукция. 2023;17(5):654-662.
Adamyan RT, Blbulyan AK, Abrahamyan RA, Abrahamyan LR, Abrahamyan GR, Ghardyan GK, Blbulyan DA. Mayer-Rokitansky-Küster-Hauser syndrome. Obstetrics, Gynecology, and Reproduction. 2023;17(5):654-662. Russian.
https://doi.org/10.17749/2313-7347/ob.gyn.rep.2023.419
7. Jaiswal S, Prasad U, Gupta R, Kumari M. Magnetic resonance imaging in patients of Mayer–Rokitansky–Küster–Hauser syndrome presenting with primary amenorrhoea: a prospective study. Egypt J Radiol Nucl Med. 2023;54:69.
https://doi.org/10.1186/s43055-023-01015-y
8. Chen N, Pan H, Luo G, Wang P, Xie Z, Hua K, Luo X, Huang X, Liu Q, Sun L, Hu W, Tao G, Zhao S, Wu N, Zhu L. Clinical characteristics of 1,055 Chinese patients with Mayer-Rokitansky-Küster-Hauser syndrome: a nationwide multicentric study. Fertil Steril. 2021;116(2):558-565.
https://doi.org/10.1016/j.fertnstert.2021.02.033
9. Matemanosak P, Peeyananjarassri K, Klangsin S, Wattanakumtornkul S, Dhanaworavibul K, Choksuchat C, Getpook C. Clinical features and management of women with Mayer-Rokitansky-Küster-Hauser syndrome in a Thai population. Obstet Gynecol Sci. 2024;67(3):314-322.
https://doi.org/10.5468/ogs.23211
10. Pietzsch M, Schönfisch B, Höller A, Koch A, Staebler A, Dreser K, Bettecken K, Schaak L, Brucker SY, Rall K. A Cohort of 469 Mayer-Rokitansky-Küster-Hauser Syndrome Patients-Associated Malformations, Syndromes, and Heterogeneity of the Phenotype. J Clin Med. 2024;13(2):607.
https://doi.org/10.3390/jcm13020607
11. Chu C, Li L, Li S, Zhou Q, Zheng P, Zhang YD, Duan AH, Lu D, Wu YM. Variants in genes related to the development of the urinary system are associated with Mayer-Rokitansky-Küster-Hauser syndrome. Hum Genom. 2022;16(1):10.
https://doi.org/10.1186/s40246-022-00385-0
12. Kosfeld A, Kreuzer M, Daniel C, Brand F, Schäfer AK, Chadt A, Weiss AC, Riehmer V, Jeanpierre C, Klintschar M, Bräsen JH, Amann K, Pape L, Kispert A, Al-Hasani H, Haffner D, Weber RG. Whole-exome sequencing identifies mutations of TBC1D1 encoding a Rab-GTPase-activating protein in patients with congenital anomalies of the kidneys and urinary tract (CAKUT). Hum Genet. 2016;135(1):69-87.
https://doi.org/10.1007/s00439-015-1610-1
13. Herlin MK. Genetics of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: advancements and implications. Front Endocrinol (Lausanne). 2024;15:1368990.
https://doi.org/10.3389/fendo.2024.1368990
14. Triantafyllidi VE, Mavrogianni D, Kalampalikis A, Litos M, Roidi S, Michala L. Identification of Genetic Causes in Mayer-Rokitansky-Küster-Hauser (MRKH) Syndrome: A Systematic Review of the Literature. Children (Basel). 2022;9(7):961.
https://doi.org/10.3390/children9070961
15. Londra L, Chuong FS, Kolp L. Mayer-Rokitansky-Küster-Hauser syndrome: a review. Int J Womens Health. 2015;7:865-870.
https://doi.org/10.2147/IJWH.S75637
16. Herlin MK, Le VQ, Højland AT, Ernst A, Okkels H, Petersen AC, Petersen MB, Pedersen IS. Whole-exome sequencing identifies a GREB1L variant in a three-generation family with Müllerian and renal agenesis: a novel candidate gene in Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. A case report. Hum Reprod. 2019;34(9):1838-1846.
https://doi.org/10.1093/humrep/dez126
17. Jacquinet A, Boujemla B, Fasquelle C, Thiry J, Josse C, Lumaka A, Brischoux-Boucher E, Dubourg C, David V, Pasquier L, Lehman A, Morcel K, Guerrier D, Bours V. GREB1L variants in familial and sporadic hereditary urogenital adysplasia and Mayer-Rokitansky-Küster-Hauser syndrome. Clin Genet. 2020;98(2):126-137.
https://doi.org/10.1111/cge.13769
18. Paudel S, Rokaha PS, Kafle P. Mayer-Rokitansky-Küster-Hauser Syndrome Type II with Fused Kidneys in Pelvic Cavity: A Case Report. JNMA J Nepal Med Assoc. 2024;62(272):279-281.
https://doi.org/10.31729/jnma.8532
19. Zainordin NA, Mohd Shah FZ, Eddy Warman NA, Wan Muhammad Hatta SF, Mohamad AF, Abdul Ghani R. A rare case of macroprolactinoma in a patient with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. Endocrinol Diabetes Metab Case Rep. 2021;21-0105.
https://doi.org/10.1530/EDM-21-0105
20. Ray U, Adhikari S, Dhital R, Shrestha S, Shah S, Poudel S, Sah SK, Gami R, Adhikari A, Gautam B. Mayer-Rokitansky-Küster-Hauser Syndrome: A rare case report from Nepal. Ann Med Surg (Lond). 2022;82:104725.
https://doi.org/10.1016/j.amsu.2022.104725
21. Kyei-Barffour I, Margetts M, Vash-Margita A, Pelosi E. The Embryological Landscape of Mayer-Rokitansky-Küster-Hauser Syndrome: Genetics and Environmental Factors. Yale J Biol Med. 2021;94(4):657-672.
https://pmc.ncbi.nlm.nih.gov/articles/PMC8686787/
22. Chen N, Song S, Duan Y, Kang J, Deng S, Pan H, Zhu L. Study on depressive symptoms in patients with Mayer-Rokitansky-Küster-Hauser syndrome: an analysis of 141 cases. Orphanet J Rare Dis. 2020;15(1):121.
https://doi.org/10.1186/s13023-020-01405-9
23. Song S, Chen N, Duan YP, Kang J, Deng S, Pan HX, Zhu L. Anxiety symptoms in patients with Mayer-Rokitansky-Küster-Hauser syndrome: a cross-sectional study. Chin Med J (Engl). 2020;133(4):388-394.
https://doi.org/10.1097/CM9.0000000000000648
24. Srivastava M, Punj J. Management of cyclical pelvic pain by multiple ultrasound-guided superior hypogastric plexus blocks in a rare case of Mayer-Rokitansky-Küster-Hauser syndrome – A case series of three blocks in a patient. Intractable Rare Dis Res. 2019;8(4):271-274.
https://doi.org/10.5582/irdr.2019.01098
25. Gaikaiwari RU, Prinsloo C, Grover SR, Wright I, Drever N. Experiences of Pelvic and Generalized Persistent Pain Syndromes in MRKH: A Scoping Review. J Pediatr Adolesc Gynecol. 2024;37(5):477-494.
https://doi.org/10.1016/j.jpag.2024.07.002
26. La Maida GA, Della Valle A, Gallazzi E, Ferraro M, Cecconi D, Cicatelli A, Priano D, La Verde L, Misaggi B. Paraparesis and congenital severe hyperkyphosis in Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: A rare deformity management during the SARS-CoV-2 pandemic. Brain Spine. 2023;3:101753.
https://doi.org/10.1016/j.bas.2023.101753
27. Bhamidipaty-Pelosi S, Kyei-Barffour I, Volpert M, O’Neill N, Grimshaw A, Eriksson L, Vash-Margita A, Pelosi E. Müllerian anomalies and endometriosis: associations and phenotypic variations. Reprod Biol Endocrinol. 2024;22(1):157.
https://doi.org/10.1186/s12958-024-01336-1
28. Tavera G, Lazebnik R. Müllerian Agenesis Masquerading as Secondary Amenorrhea. Case Rep Pediatr. 2018;2018:6912351.
Downloads
Published
How to Cite
Issue
Section
License
Copyright (c) 2025 З.Б. Ахметжанова, Л.Е Есжанова, М.И Равшанбекова , Д.Д. Мирзахметова, А.Ж Сейткул
This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.
The articles published in this Journal are licensed under the CC BY-NC-ND 4.0 (Creative Commons Attribution – Non-Commercial – No Derivatives 4.0 International) license, which provides for their non-commercial use only. Under this license, users have the right to copy and distribute the material in copyright but are not permitted to modify or use it for commercial purposes. Full details on the licensing are available at https://creativecommons.org/licenses/by-nc-nd/4.0/.
