MAYER-ROKITANSKY-KÜSTER-HAUSER (MRKH) SYNDROME IN GIRLS – DIAGNOSIS, TREATMENT AND PSYCHOSOCIAL ASPECTS
Abstract
Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome is a rare congenital disorder characterized by agenesis or aplasia of the uterus and the upper part of the vagina in otherwise chromosomally and hormonally normal females (46,XX). It affects approximately 1 in 4500–5000 live female births and represents one of the most common causes of primary amenorrhea. Genetic and environmental factors are the main cause of the syndrome, although the pathogenesis is multifactorial. Diagnostics include both imaging tests (such as ultrasound or magnetic resonance imaging) and genetic tests. Therapeutic management is aimed at forming a functional neovagina that allows for comfortable sexual intercourse, achieved through either non-surgical dilation techniques or surgical vaginoplasty, selected according to the patient’s preferences and existing indications or contraindications to a given type of procedure. Available reproductive approaches, including uterine transplantation, surrogacy, and adoption, provide women with MRKH syndrome the possibility of achieving motherhood. Psychological assistance is essential, since the diagnosis has a significant impact on a woman’s self-esteem, perception of her body, and sense of sexual identity. Multidisciplinary care including medical, surgical, and psychological interventions is vital to achieving the best therapeutic outcomes and enhancing the quality of life of patients with MRKH syndrome.
References
Herlin, M. K., Petersen, M. B., & Brännström, M. (2020). Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: a comprehensive update. Orphanet journal of rare diseases, 15(1), 214. https://doi.org/10.1186/s13023-020-01491-9
da Cunha, G. C. R., de Souza, V. S., Von Zuben, M., Córdoba, M. S., Soares, M. V. A., Bonadio, R. S., de Oliveira, D. M., de Oliveira, S. F., Araújo, J. F. M., & Pic-Taylor, A. (2025). Mayer-Rokitansky-Küster-Hauser syndrome associated with 7q11.23 microduplication: A case report. Global medical genetics, 12(2), 100039.
Fontana, L., Gentilin, B., Fedele, L., Gervasini, C., & Miozzo, M. (2017). Genetics of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. Clinical genetics, 91(2), 233–246. https://doi.org/10.1111/cge.12883
Liszewska-Kapłon, M., Strózik, M., Kotarski, Ł., Bagłaj, M., & Hirnle, L. (2020). Mayer-Rokitansky-Küster-Hauser syndrome as an interdisciplinary problem. Advances in clinical and experimental medicine : official organ Wroclaw Medical University, 29(4), 505–511. https://doi.org/10.17219/acem/118850
Herlin M. K. (2024). Genetics of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: advancements and implications. Frontiers in endocrinology, 15, 1368990. https://doi.org/10.3389/fendo.2024.1368990
Ledig, S., & Wieacker, P. (2018). Clinical and genetic aspects of Mayer-Rokitansky-Küster-Hauser syndrome. Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V, 30(1), 3–11. https://doi.org/10.1007/s11825-018-0173-7
Morcel, K., Camborieux, L., Programme de Recherches sur les Aplasies Müllériennes, & Guerrier, D. (2007). Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. Orphanet journal of rare diseases, 2, 13. https://doi.org/10.1186/1750-1172-2-13
Chen, N., Song, S., Bao, X., & Zhu, L. (2022). Update on Mayer-Rokitansky-Küster-Hauser syndrome. Frontiers of medicine, 16(6), 859–872. https://doi.org/10.1007/s11684-022-0969-3
Marsh, C. A., Will, M. A., Smorgick, N., Quint, E. H., Hussain, H., & Smith, Y. R. (2013). Uterine remnants and pelvic pain in females with Mayer-Rokitansky-Küster-Hauser syndrome. Journal of pediatric and adolescent gynecology, 26(3), 199–202. https://doi.org/10.1016/j.jpag.2012.11.014
Wang, Y., Lu, J., Zhu, L., Sun, Z., Jiang, B., Feng, F., & Jin, Z. (2017). Evaluation of Mayer-Rokitansky-Küster-Hauser syndrome with magnetic resonance imaging: Three patterns of uterine remnants and related anatomical features and clinical settings. European radiology, 27(12), 5215–5224. https://doi.org/10.1007/s00330-017-4919-4
Rall, K., Eisenbeis, S., Henninger, V., Henes, M., Wallwiener, D., Bonin, M., & Brucker, S. (2015). Typical and Atypical Associated Findings in a Group of 346 Patients with Mayer-Rokitansky-Kuester-Hauser Syndrome. Journal of pediatric and adolescent gynecology, 28(5), 362–368. https://doi.org/10.1016/j.jpag.2014.07.019
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), 374. https://doi.org/10.1186/s13256-016-1127-9
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(7), 1621–1627. https://doi.org/10.1007/s00330-014-3156-3Chormanski D, Sharma L, Muzio MR. 17-Hydroxylase Deficiency. In: StatPearls. Treasure Island (FL): StatPearls Publishing; March 17, 2025.
Chormanski, D., Sharma, L., & Muzio, M. R. (2025). 17-Hydroxylase Deficiency. In StatPearls. StatPearls Publishing.
Delli Paoli, E., Di Chiano, S., Paoli, D., Lenzi, A., Lombardo, F., & Pallotti, F. (2023). Androgen insensitivity syndrome: a review. Journal of endocrinological investigation, 46(11), 2237–2245. https://doi.org/10.1007/s40618-023-02127-y
Tsarna, E., Eleftheriades, A., Eleftheriades, M., Kalampokas, E., Liakopoulou, M. K., & Christopoulos, P. (2022). The impact of Mayer-Rokitansky-Küster-Hauser Syndrome on Psychology, Quality of Life, and Sexual Life of Patients: A Systematic Review. Children (Basel, Switzerland), 9(4), 484. https://doi.org/10.3390/children9040484
Heller-Boersma, J. G., Schmidt, U. H., & Edmonds, D. K. (2009). Psychological distress in women with uterovaginal agenesis (Mayer-Rokitansky-Kuster-Hauser Syndrome, MRKH). Psychosomatics, 50(3), 277–281. https://doi.org/10.1176/appi.psy.50.3.277
Bargiel-Matusiewicz, K., & Kroemeke, A. (2015). Personality traits and coping styles in women with Mayer-Rokitansky-Küster-Hauser syndrome. Archives of medical science : AMS, 11(6), 1244–1249. https://doi.org/10.5114/aoms.2015.56350
Heller-Boersma, J. G., Edmonds, D. K., & Schmidt, U. H. (2009). A cognitive behavioural model and therapy for utero-vaginal agenesis (Mayer-Rokitansky-Küster-Hauser syndrome: MRKH). Behavioural and cognitive psychotherapy, 37(4), 449–467. https://doi.org/10.1017/S1352465809990051
Beisert, M. J., Chodecka, A. M., Walczyk-Matyja, K., Szymańska-Pytlińska, M. E., Kędzia, W., & Kapczuk, K. (2022). Psychological correlates of sexual self-esteem in young women with Mayer-Rokitansky-Küster-Hauser syndrome. Current issues in personality psychology, 10(4), 333–342. https://doi.org/10.5114/cipp.2022.114044
Committee on Adolescent Health Care (2018). ACOG Committee Opinion No. 728: Müllerian Agenesis: Diagnosis, Management, And Treatment. Obstetrics and gynecology, 131(1), e35–e42. https://doi.org/10.1097/AOG.0000000000002458
Williams, J. K., Lake, M., & Ingram, J. M. (1985). The bicycle seat stool in the treatment of vaginal agenesis and stenosis. Journal of obstetric, gynecologic, and neonatal nursing : JOGNN, 14(2), 147–150. https://doi.org/10.1111/j.1552-6909.1985.tb02219.x
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. https://doi.org/10.1016/j.fertnstert.2011.12.038
Ketheeswaran, A., Morrisey, J., Abbott, J., Bennett, M., Dudley, J., & Deans, R. (2018). Intensive vaginal dilation using adjuvant treatments in women with Mayer-Rokitansky-Kuster-Hauser syndrome: retrospective cohort study. The Australian & New Zealand journal of obstetrics & gynaecology, 58(1), 108–113. https://doi.org/10.1111/ajo.12715
Baby, A., Pallam, M. C., & Hayter, M. (2024). Effectiveness of non-surgical interventions to improve health and well-being in women living with Mayer-Rokitansky-Kuster-Hauser syndrome: A systematic review. Journal of advanced nursing, 80(6), 2167–2201. https://doi.org/10.1111/jan.15976
Banister, J. B., & McIndoe, A. H. (1938). Congenital Absence of the Vagina, treated by Means of an Indwelling Skin-Graft. Proceedings of the Royal Society of Medicine, 31(9), 1055–1056. https://doi.org/10.1177/003591573803100916
Baldwin J. F. (1904). XIV. The Formation of an Artificial Vagina by Intestinal Trransplantation. Annals of surgery, 40(3), 398–403.
Davydov S. N. (1969). Operatsiia kol'popeza iz briushiny matochno-priamokishechnogo prostranstva [Colpopoeisis from the peritoneum of the uterorectal space]. Akusherstvo i ginekologiia, 45(12), 55–57.
WILLIAMS E. A. (1964). CONGENITAL ABSENCE OF THE VAGINA: A SIMPLE OPERATION FOR ITS RELIEF. The Journal of obstetrics and gynaecology of the British Commonwealth, 71, 511–512. https://doi.org/10.1111/j.1471-0528.1964.tb04315.x
Callens, N., De Cuypere, G., De Sutter, P., Monstrey, S., Weyers, S., Hoebeke, P., & Cools, M. (2014). An update on surgical and non-surgical treatments for vaginal hypoplasia. Human reproduction update, 20(5), 775–801. https://doi.org/10.1093/humupd/dmu024
Benedetti Panici, P., Maffucci, D., Ceccarelli, S., Vescarelli, E., Perniola, G., Muzii, L., & Marchese, C. (2015). Autologous in vitro cultured vaginal tissue for vaginoplasty in women with Mayer-Rokitansky-Küster-Hauser syndrome: anatomic and functional results. Journal of minimally invasive gynecology, 22(2), 205–211. https://doi.org/10.1016/j.jmig.2014.09.012
Raya-Rivera, A. M., Esquiliano, D., Fierro-Pastrana, R., López-Bayghen, E., Valencia, P., Ordorica-Flores, R., Soker, S., Yoo, J. J., & Atala, A. (2014). Tissue-engineered autologous vaginal organs in patients: a pilot cohort study. Lancet (London, England), 384(9940), 329–336. https://doi.org/10.1016/S0140-6736(14)60542-0
Zhu, L., Zhou, H., Sun, Z., Lou, W., & Lang, J. (2013). Anatomic and sexual outcomes after vaginoplasty using tissue-engineered biomaterial graft in patients with Mayer-Rokitansky-Küster-Hauser syndrome: a new minimally invasive and effective surgery. The journal of sexual medicine, 10(6), 1652–1658. https://doi.org/10.1111/jsm.12143
Adamiak-Godlewska, A., Skorupska, K., Rechberger, T., Romanek-Piva, K., & Miotła, P. (2019). Urogynecological and Sexual Functions after Vecchietti Reconstructive Surgery. BioMed research international, 2019, 2360185. https://doi.org/10.1155/2019/2360185
Brännström, M., Johannesson, L., Bokström, H., Kvarnström, N., Mölne, J., Dahm-Kähler, P., Enskog, A., Milenkovic, M., Ekberg, J., Diaz-Garcia, C., Gäbel, M., Hanafy, A., Hagberg, H., Olausson, M., & Nilsson, L. (2015). Livebirth after uterus transplantation. Lancet (London, England), 385(9968), 607–616. https://doi.org/10.1016/S0140-6736(14)61728-1
Steele, S. E., Terry, J. E., Page, L. M., & Girling, J. C. (2019). Pregnancy in women known to be living with a single kidney. Obstetric medicine, 12(1), 22–26. https://doi.org/10.1177/1753495X18784081
Friedler, S., Grin, L., Liberti, G., Saar-Ryss, B., Rabinson, Y., & Meltzer, S. (2016). The reproductive potential of patients with Mayer-Rokitansky-Küster-Hauser syndrome using gestational surrogacy: a systematic review. Reproductive biomedicine online, 32(1), 54–61. https://doi.org/10.1016/j.rbmo.2015.09.006
Le, T. T. Q., Le, N. T. H., Vu, T. A., Nguyen, H. H., & Vuong, L. N. (2024). Perception of having children through surrogacy in individuals with MRKH in Vietnam: a qualitative study. Frontiers in psychology, 15, 1372405. https://doi.org/10.3389/fpsyg.2024.1372405
Mazurkiewicz, W., Kacprzak, U., Paluchowicz, K., Purgal-Zaborowska, K., Sobczyk, K., Sochowska, J., & Kapczuk, K. (2024). Motherhood and attitudes towards motherhood in women with Mayer-Rokitansky-Küster-Hauser syndrome. Ginekologia polska, 95(8), 615–620. https://doi.org/10.5603/gpl.98646
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