Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. Diagnostic and therapeutic approach of a rare disease

https://doi.org/10.25100/cm.v42i3.884

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Published: Jul 12, 2024
Updated: 2024-07-12
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2024-07-12 (2)
Issue: Vol. 42 No. 3 (2011)
Section Case Report

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Authors

María del Mar Muñoz Hospital Infanta Cristina
Rosario Noguero Hospital Infanta Cristina
Silvia Martín Hospital Infanta Cristina
Abstract
Introduction: The Mayer-Rokitansky-Küster-Hauser syndrome is characterized by the absence of the vagina and uterus and primary amenorrhea.Objective: The diagnostic evaluation and the therapeutic possibilities of a rare syndrome.Materials and methods: We present a case of a Rokitansky syndrome.Results: The patient presented normal development of secondary sexual characters. Analysis also showed normal hormonal function behavior along with a 46, XX karyotype. Magnetic resonance imaging revealed uterine agenesis and treatment was delayed until the patient and her family understood the diagnosis.Conclusions: The diagnostic suspicion is the milestone to manage this disease. Physical exploration, hormonal function, and radiological studies must confirm this syndrome. Laparoscopy is the approach of choice. 
Keywords
  • Rokitansky
  • Vagina agenesis
  • Uterus agenesis
  • Amenorrhea
  • Neovagina
  • Laparoscopy
References

Barbosa G, Varela Guzmán M. Adolescente con síndrome deMayer-Von Rokitansky-Küster-Hauser: la importancia de unmanejo integral multidisciplinario. Rev Colomb ObstetrGinecol. 2006; 57: 305-11.2.Morcel K, Camborieux L. Programme de Recherches sur lesAplasies Mülleriennes (PRAM) and Daniel Guerrier. MayerRokitansky Küster Hauser Syndrome. Orphanet J Rare Dis. DOI: https://doi.org/10.18597/rcog.471

Colombia Médica Vol. 42 Nº 3, 2011 (Julio-Septiembre)2007; 2: 13-21.3.Oppelt P, Renner SP, Kellermann A, Brucker S, Hauser GA,Ludwig KS, et al. Clinical aspects of Mayer-Rokitansky-Küster-Hauser syndrome: recommendations for clinical diag-nosis and standing. Hum Reprod 2006; 21: 792-7.4.Bean EJ, Mazur T, Robinson AD. Mayer-Rokitansky KusterHauser syndrome: sexuality, psychological effects, and qualityof life. J Pediatr Adolesc Gynecol. 2009; 22: 339-46.5.Behera M, Couchman G, Walmer D, Price TM. Müllerianagenesis and thrombocytopenia absent radius syndrome: acase report and review of syndromes associated with Müllerianagenesis. Obstet Gynecol Surv. 2005; 60: 453-61.6.Quint EH, Smith YR. Primary amenorrhea in a teenager.Obstet Gynecol. 2006; 107: 414-7.7.Heller-Boersma JG, Schmidt UH, Edmonds DK. Psychologicaldistress in women with uterovaginal agenesis (Mayer-Rokitansky-Kuster-Hauser syndrome). Psychosomatics. 2009;50: 277-81.8.Frank, R.T. The formation of an artificial vagina with outoperation. Am J Obstet Gynecol. 1938; 35: 1053.9.O ́Connor JL, De Marco RT, Pope JC4th, Adams MC, BrockJW3rd. Bowel vaginoplasty in children: a retrospective review.J Pediatr Surg. 2004; 39: 1205-8.10. Folgueira G, Pérez Medina T, Martínez-Cortés L, Martínez-Lara A, San Frutos L, Álvarez P, et al. Creación de neovaginapor laparoscopia en el síndrome de Rokitansky. Análisis denuestros casos. Prog Obstet Ginecol. 2005; 48: 8-13.11. Borruto F, Chasen ST, Chevenak FA, Fedele L. The Vecchiettiprocedure for surgical treatment of vaginal agenesis:comparison of laparoscopy and laparotomy. Int J GynaecolObstet. 1999; 64: 153-8.12. Weijenborg PT, ter Kuile MM. The effect of a group programmeon women with the Mayer-Rokitansky-Kuster-Hausersyndrome. Bjog. 2000; 107: 365-8 DOI: https://doi.org/10.1111/j.1471-0528.2000.tb13232.x

How to Cite
Muñoz, M. del M., Noguero, R., & Martín, S. (2024). Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. Diagnostic and therapeutic approach of a rare disease. Colombia Medica, 42(3), 369–372. https://doi.org/10.25100/cm.v42i3.884 (Original work published September 26, 2011)
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