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


Akhmetzhanova Z.B. Yeszhanova L.E. Ravshanbekova M.I. Mirzakhmetova D.D. Seiitkul A.Zh.
30 September 2025Kaz Med Print LLP

Reproductive Medicine (Central Asia)
2025#2025Issue 3210 - 218 pp.

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.

amenorrhea , Mayer-Rokitansky-Küster-Hauser syndrome type 2 , Müllerian aplasia , uterine agenesis , uterine aplasia

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Astana Medical University, Astana, Kazakhstan
Ahmet Yassawi University, Turkestan, Kazakhstan

Astana Medical University
Ahmet Yassawi University

10 лет помогаем публиковать статьи Международный издатель

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