Diagnóstico de síndrome de Mayer-Rokitansky-Küster-Hauser

• Autores: Berrios Pacheco, Luis Felipe, Sachahuaman Aliaga, Lisset, Arana Garcia, Neftaly, Quispe Condor, Katty Marisol, Girón Huaranga, Katheryn Livvy, Arellan-Bravo, Luis Jesus
• Formato: artículo
• Fecha de Publicación: 2026
• Institución: Sociedad Peruana de Obstetricia y Ginecología
• Repositorio: Revista Peruana de Ginecología y Obstetricia
• Lenguaje: español; inglés
• OAI Identifier: oai:ginecologiayobstetricia.pe:article/2787
• Enlace del recurso: https://ginecologiayobstetricia.pe/index.php/RPGO/article/view/2787
• Nivel de acceso: acceso abierto
• Materia: Amenorrhea; abnormalities; Mullerian Ducts; Peru; Síndrome de Insensibilidad a los Andrógenos; Trastornos del Desarrollo Sexual; Diagnóstico Genético; Disgenesia Gonadal; Enfermedad Rara

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a rare congenitalmalformation characterized by agenesis or hypoplasia of the uterus and the upper third of the vagina, in patients with a forty-six, XX karyotype and normal secondary sexual development. We present the case of a 12-year-old female patient with primary amenorrhea and hypogastric pain. Imaging studies revealed hematometra secondary to distal vaginal obstruction. Magnetic resonance imaging and laparoscopy confirmed the presence of a functioning hypoplastic uterus, absence of the cervix,and a short vaginal canal, findings consistent with type I MRKH. Emergency surgical drainage was performed. Comprehensive management of this syndrome requires a multidisciplinary approach for diagnosis, surgical intervention, and psychologicalsupport, due to its reproductive, emotional, and social impact.