Mayer-Rokitansky-Küster-Hauser Syndrome: A Case of Primary Amenorrhoea and Diagnostic Approach
Zeba Saleem 1, Abiha Ahmad Khan 1*, Syeda Aamena Naaz 1, Ahmad Hamdy Ibrahim 2
Journal of Angiotherapy 8(8) 1-6 https://doi.org/10.25163/angiotherapy.889910
Submitted: 03 June 2024 Revised: 13 August 2024 Published: 16 August 2024
Abstract
Background: Amenorrhoea, defined as the absence of menstruation, can be classified into primary and secondary types. Primary amenorrhoea is diagnosed when menstruation has not occurred by age 15 or within three years of breast development. Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a rare cause of primary amenorrhoea characterized by uterovaginal aplasia in women with a normal 46, XX karyotype and secondary sexual characteristics. This case report discusses a 15-year-old girl diagnosed with MRKH syndrome after a thorough diagnostic workup. Methods: A detailed diagnostic evaluation was conducted, including physical examination, imaging (ultrasonography and MRI), hormonal testing, and chromosomal analysis. The patient presented with primary amenorrhoea and no family history of related conditions. Ultrasound and MRI confirmed the absence of a uterus and non-visualization of the ovaries. Hormonal tests were within normal ranges, and chromosomal analysis revealed a 46, XX karyotype. Results: The diagnostic workup confirmed an atrophic uterus with small bilateral ovaries and no functional endometrial tissue. Mayer-Rokitansky-Küster-Hauser syndrome was diagnosed. The patient was counseled regarding surgical options, including neovaginoplasty, to create a functional vaginal canal for sexual intercourse. Conclusion: MRKH syndrome, though rare, is an important consideration in cases of primary amenorrhoea. Timely diagnosis through imaging and chromosomal analysis is crucial for appropriate management. Psychological counseling and surgical options such as neovaginoplasty can significantly improve the quality of life for affected individuals, particularly regarding sexual health and reproductive possibilities. Addressing the psychological burden associated with infertility is also critical to patient care.
Keywords: Mayer-Rokitansky-Küster-Hauser Syndrome, primary amenorrhoea, uterovaginal aplasia, neovaginoplasty, Müllerian dysgenesis
References
Agha, R. A., Franchi, T., Sohrabi, C., Mathew, G., Kerwan, A., Thoma, A., Beamish, A. J., Noureldin, A., Rao, A., & Vasudevan, B., Challacombe, B. (2020). The SCARE 2020 guideline: updating consensus surgical CAse REport (SCARE) guidelines. International Journal of Surgery, 84, 226-230.
Bjørsum-Meyer, T., Herlin, M., Qvist, N., & Petersen, M. B. (2016). Vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association with Mayer-Rokitansky-Küster-Hauser syndrome in co-occurrence: two case reports and a review of the literature. Journal of medical case reports, 10, 1-10.
Boruah, D. K., Sanyal, S., Gogoi, B. B., Mahanta, K., Prakash, A., Augustine, A., Achar, S., & Baishya, H. (2017). Spectrum of MRI appearance of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome in primary amenorrhea patients. Journal of clinical and diagnostic research: JCDR, 11(7), TC30.
Chumlea, W. C., Schubert, C. M., Roche, A. F., Kulin, H. E., Lee, P. A., Himes, J. H., & Sun, S. S. (2003). Age at menarche and racial comparisons in US girls. Pediatrics, 111(1), 110-113.
CoAH, C. (2018). ACOG Committee Opinion No. 728: Müllerian agenesis: diagnosis, management, and treatment. Obstet Gynecol, 131(1), e35-42.
Edmonds, D. K., Rose, G. L., Lipton, M. G., & Quek, J. (2012). Mayer-Rokitansky-Küster-Hauser syndrome: a review of 245 consecutive cases managed by a multidisciplinary approach with vaginal dilators. Fertility and sterility, 97(3), 686-690.
Fiaschetti, V., Taglieri, A., Gisone, V., Coco, I., & Simonetti, G. (2012). Mayer-Rokitansky-Kuster-Hauser syndrome diagnosed by magnetic resonance imaging. Role of imaging to identify and evaluate the uncommon variation in development of the female genital tract. Journal of radiology case reports, 6(4), 17.
Gaspari, L., Paris, F., Kalfa, N., & Sultan, C. (2023). Primary amenorrhea in adolescents: approach to diagnosis and management. Endocrines, 4(3), 536-547.
Golden, N. H., & Carlson, J. L. (2008). The pathophysiology of amenorrhea in the adolescent. Annals of the New York Academy of Sciences, 1135(1), 163-178.
Henkel, A. (2019). ACOG Committee Opinion No. 651. Menstruation in Girls and Adolescents: Using the Menstrual Cycle as a Vital Sign Obstet Gynecol 2015; 126: e143-6. OBSTETRICS AND GYNECOLOGY, 133(3), 580-580.
Klein, D. A., Paradise, S. L., & Reeder, R. M. (2019). Amenorrhea: a systematic approach to diagnosis and management. American family physician, 100(1), 39-48.
Ledig, S., & Wieacker, P. (2018). Clinical and genetic aspects of Mayer–Rokitansky–Küster–Hauser syndrome. medizinische genetik, 30(1), 3-11.
Londra, L., Chuong, F. S., & Kolp, L. (2015). Mayer-Rokitansky-Kuster-Hauser syndrome: a review. International journal of women's health, 865-870.
Master-Hunter, T., & Heiman, D. L. (2006). Amenorrhea: evaluation and treatment. American family physician, 73(8), 1374-1382.
Munro, M. G., Balen, A. H., Cho, S., Critchley, H. O., Díaz, I., Ferriani, R., Henry, L., Mocanu, E., & van der Spuy, Z. M. (2022). The FIGO ovulatory disorders classification system. Human Reproduction, 37(10), 2446-2464.
Nguyen, B. T., Dengler, K. L., & Saunders, R. D. (2018). Mayer–Rokitansky–Kuster–Hauser Syndrome: A Unique Case Presentation. Military medicine, 183(5-6), e266-e269.
Pizzo, A., Laganà, A. S., Sturlese, E., Retto, G., Retto, A., De Dominici, R., & Puzzolo, D. (2013). Mayer-Rokitansky-Kuster-Hauser syndrome: embryology, genetics and clinical and surgical treatment. International Scholarly Research Notices, 2013(1), 628717.
Preibsch, H., Rall, K., Wietek, B. M., Brucker, S. Y., Staebler, A., Claussen, C. D., & Siegmann-Luz, K. C. (2014). Clinical value of magnetic resonance imaging in patients with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: diagnosis of associated malformations, uterine rudiments and intrauterine endometrium. European radiology, 24, 1621-1627.
Sultan, C., Gaspari, L., Maimoun, L., Kalfa, N., & Paris, F. (2018). Disorders of puberty. Best Practice & Research Clinical Obstetrics & Gynaecology, 48, 62-89.
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