SOCIODEMOGRAPHIC AND CLINICAL CHARACTERISTICS OF BRAZILIAN WOMEN WITH MAYER-ROKITANSKY-KÜSTER-HAUSER SYNDROME
FINDINGS FROM A CROSS-SECTIONAL ANALYSIS
DOI:
https://doi.org/10.35919/rbsh.v37.1306Keywords:
Congenital abnormalities, Sexual health, Women’s health, Reproductive health servicesAbstract
Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) is a rare congenital condition affecting approximately 1 in 5,000 individuals with a 46, XX karyotype, characterized by partial or complete absence of the uterus and vaginal canal. Given the scarcity of studies on this population and the limited number of professionals specialized in sexual and reproductive health who provide care for these patients, this study aimed to investigate participant’s clinical histories and analyze sociodemographic characteristics that may influence the clinical-diagnostic management of the condition. The sample consisted of 34 individuals diagnosed with MRKH in different regions of Brazil and sought health information through Instituto Roki, an independent, nonprofit organization that promotes health education, peer support, and assistance in the therapeutic management of MRKHS. Participants completed an online questionnaire developed by the researchers addressing sociodemographic characteristics, clinical histories, and romantic relationships. The main findings reveales that diagnosis during adolescence was most frequent, participants from the Southeast and South regions accessed a greater variety of health specialties, most underwent procedures to create neovagina, physiotherapeutic follow-up during this process likely reduced the need for surgical intervention, and psychosocial support potentially facilitated adaptation to the diagnosis and its implications.
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References
ABREU, F.M.C.; LINHARES, B.Q.H.S. A atuação da fisioterapia na síndrome de Mayer-Rokitansky-Kuster-Hauser. Revista Ibero-Americana de Humanidades, Ciências e Educação. v. 8, n. 6, p. 803–810, jun. 2022. Dis-ponível em: https://doi.org/10.51891/rease.v8i6.5842. Acesso em: 13 nov. 2023
ACOG Committee Opinion No. 728: Müllerian Agenesis: Diagnosis, Management, And Treatment. Obstetrics & Gynecology, v. 131, n. 1, p. e35–e42, 2018. Disponível em: https://doi.org/10.1097/AOG.0000000000002458. Acesso em: 15 fev. 2025
AGÊNCIA BRASIL. Censo 2022: mulheres são maioria em todas as regiões pela primeira vez. Agência Brasil, 2023.
BABY, A.; PALLAM, M.C.; HAYTER, M. 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 Ad-vanced Nursing, v. 80, n. 6, p. 2167–2201, 2024. Disponível em: https://doi.org/10.1111/jan.15976. Acesso em: 22 ago. 2024
BARGIEL-MATUSIEWICZ, K.; KROEMEKE, A. Personality traits and coping styles in women with Mayer-Rokitansky-Küster-Hauser syndrome. Archives of Medical Science, v. 6, p. 1244–1249, 2015. Disponível em: http://www.termedia.pl/doi/10.5114/aoms.2015.56350. Acesso em: 24 jan. 2024
BEAN, E. J.; MAZUR, T.; ROBINSON, A. D. Mayer-Rokitansky-Küster-Hauser Syndrome: Sexuality, Psychologi-cal Effects, and Quality of Life. Journal of Pediatric and Adolescent Gynecology, v. 22, n. 6, p. 339–346, 2009. Disponível em: https://doi.org/10.1016/j.jpag.2008.11.006. Acesso em: 14 fev. 2024
BRUCKER, S.Y. et al. Living-Donor Uterus Transplantation: Pre-, Intra-, and Postoperative Parameters Rele-vant to Surgical Success, Pregnancy, and Obstetrics with Live Births. Journal of Clinical Medicine, v. 9, n. 8, p. 2485, 2020. Disponível em: https://doi.org/10.3390/jcm9082485. Acesso em: 17 fev. 2025
CARLSON, B. M. Sistema Urogenital In: BRUCKER, S.Y. (org.) Embriologia Humana e Biologia do Desenvolvi-mento. 5 ed. p. 376-407. Rio de Janeiro: Elsevier Brasil, 2014.
DABAGHI, S.; ZANDI, M.; ILKHANI, M. Sexual satisfaction in patients with Mayer-Rokitansky-Küster-Hauser syndrome after surgical and non-surgical techniques: a systematic review. International Urogynecology Jour-nal, v. 30, n. 3, p. 353–362, 2019. Disponível em: https://doi.org/10.1007/s00192-018-3854-5. Acesso em: 31. mai. 2023
DOMENICE, S. et al. Aspectos Moleculares da Determinação e Diferenciação Sexual. Arquivos Brasileiros de Endocrinologia & Metabologia, v. 46, n. 4, p. 433–443, 2002. Disponível em: https://doi.org/10.1590/S0004-27302002000400015. Acesso em: 08 nov. 2023
EDMONDS, D. K. et al. Mayer-Rokitansky-Küster-Hauser syndrome: a review of 245 consecutive cases man-aged by a multidisciplinary approach with vaginal dilators. Fertility and Sterility, v. 97, n. 3, p. 686–690, 2012. Disponível em: https://doi.org/10.1016/j.fertnstert.2011.12.038. Acesso em: 12 mar. 2025
FACCHIN, F. et al. Psychological impact and health-related quality-of-life outcomes of Mayer–Rokitansky–Küster–Hauser syndrome: A systematic review and narrative synthesis. Journal of Health Psychology, v. 26, n. 1, p. 26–39, 2021. Disponível em: http://journals.sagepub.com/doi/10.1177/1359105319901308. Acesso em: 03 ago. 2023
GEORGOPAPADAKOS, N. et al. Uterus Transplantation as a Therapy Method in Mayer-Rokitansky-Küster-Hauser Syndrome. Cureus, v. 11, n. 12, p. e6333, 2019. Disponível em: https://doi.org/10.7759/cureus.6333. Acesso em: 17 fev. 2025
GUTSCHE, R.M. et al. Síndrome de Mayer-Rokitansky-Kuster-Hauser: relato de caso e revisão da literatura. Radiologia Brasileira, v. 44, n. 3, p. 192–194, 2011. Disponível em: https://doi.org/10.1590/S0100-39842011000300014. Acesso em: 03 ago. 2023
HADAVIBAVILI, P.; İLÇIOĞLU, K.; HAMLACI BAŞKAYA, Y. Evaluation of sexual function outcomes in patients with Rokitansky Syndrome: A Systematic Review and Meta-analysis. Journal of Minimally Invasive Gynecology, v. 30, n. 9, p. 705–715, 2023. Disponível em: https://doi.org/10.1016/j.jmig.2023.05.014. Acesso em: 22 ago. 2024
HATIM, H. et al. The missing uterus, the missed diagnosis, and the missing care. Mayer-Rokitansky-Küster-Hauser syndrome in the lives of women in Malaysia. Journal of Pediatric and Adolescent Gynecology, v. 34, n. 2, p. 161–167, 2021. Disponível em: https://doi.org/10.1016/j.jpag.2020.11.009. Acesso em: 22 ago. 2024
HENTRICH, T. et al. The Endometrial Transcription Landscape of MRKH Syndrome. Frontiers in Cell and Devel-opmental Biology, v. 8, p. 572281, 2020. Disponível em: https://doi.org/10.3389/fcell.2020.572281. Acesso em: 03 ago. 2023
HERLIN, M.K.; PETERSEN, M.B.; BRÄNNSTRÖM, M. Mayer-Rokitansky-Küster-Hauser syndrome: a compre-hensive update. Orphanet Journal of Rare Diseases, v. 15, n. 1, p. 214, 2020. Disponível em: https://doi.org/10.1186/s13023-020-01491-9. Acesso em: 03. ago 2023
KRUGLYAK, D.A. et al. Possibilities of physiotherapy in Mayer–Rokitansky–Kuester–Hauser syndrome. Russian Journal of Physiotherapy, Balneology and Rehabilitation, v. 20, n. 1, p. 37–43, 2021. Disponível em: https://doi.org/10.17816/1681-3456-2021-20-1-37-43. Acesso em: 12 mar. 2025
MANRIQUE, O.J. et al. Assessment of Pelvic Floor Anatomy for Male-to-Female Vaginoplasty and the Role of Physical Therapy on Functional and Patient-Reported Outcomes. Annals of Plastic Surgery, v. 82, n. 6, p. 661–666, jun. 2019. Disponível em: https://journals.lww.com/00000637-201906000-00015. Acesso em: 08 abr. 2024
OLIVEIRA, Robson Rocha De; VIANA, Ana Luiza d’Ávila. Expansão global dos ensaios clínicos: inovação e inte-ração. Cadernos de Saúde Pública, v. 35, n. 11, p. e00063518, 2019. Disponível em: 2025https://www.scielo.br/j/csp/a/sd3CmGgQQdFRvRQWRK4HrHS/?format=html&lang=pt. Acesso em: 12 mar. 2025.
OLIVEIRA, T. S.; PEREIRA, A. M. M. Expressões das desigualdades no acesso aos serviços de saúde na América Latina: uma revisão de escopo. Ciência & Saúde Coletiva, v. 29, p. e04932024, 2024. Disponível em: https://doi.org/10.1590/0102-311X00063518. Acesso em: 12 mar. 2025
OPPELT, P. et al. Female genital malformations and their associated abnormalities. Fertility and Sterility, v. 87, n. 2, p. 335–342, 2007. Disponível em: https://pubmed.ncbi.nlm.nih.gov/17126338/. Acesso em: 15 set. 2025
ORPHANET. Mayer Rokitansky Küster Hauser syndrome. 2023. Disponível em: https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3109. Acesso em: 9 nov. 2023.
PIETZSCH, M. et al. A Cohort of 469 Mayer–Rokitansky–Küster–Hauser Syndrome Patients—Associated Mal-formations, Syndromes, and Heterogeneity of the Phenotype. Journal of Clinical Medicine, v. 13, n. 2, p. 607, 2024. Disponível em: https://doi.org/10.3390/jcm13020607. Acesso em: 27 fev. 2024
TSARNA, E. et al. The impact of Mayer–Rokitansky–Küster–Hauser Syndrome on Psychology, Quality of Life, and Sexual Life of Patients: A Systematic Review. Children, v. 9, n. 4, p. 484, 2022. Disponível em: https://doi.org/10.3390/children9040484. Acesso em: 3 ago. 2023
WEIJENBORG, P. T. M. et al. Sexual functioning, sexual esteem, genital self-image and psychological and rela-tional functioning in women with Mayer–Rokitansky–Küster–Hauser syndrome: a case–control study. Human Reproduction, v. 34, n. 9, p. 1661–1673, 2019. Disponível em: https://doi.org/10.1093/humrep/dez130. Aces-so em: 26 set. 2023
WORLD HEALTH ORGANIZATION. Social determinants of health. Disponível em: https://www.who.int/health-topics/social-determinants-of-health#tab=tab_3. Acesso em: 15 set. 2025
YANO, K. et al. Clinical features of Mayer-Rokitansky-Küster-Haüser syndrome diagnosed at under 16 years old: results from a questionnaire survey conducted on all institutions of pediatric surgery and pediatric urology in Japan. Pediatric Surgery International, v. 38, n. 11, p. 1585–1589, 2022. Disponível em: https://doi.org/10.1007/s00383-022-05201-3. Acesso em: 17 fev. 2025
ZHU, L. et al. 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, v. 10, n. 6, p. 1652–1658, 2013. Disponível em: https://doi.org/10.1111/jsm.12143. Acesso em: 10 jun. 2023
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Copyright (c) 2026 Lidia Silveira dos Santos, Juliana Schulze Burti, Hellen Vivianni Veloso Corrêa
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