Resumo

MUNOZ, María del Mar; NOGUERO, Rosario  e  MARTIN, Silvia. Mayer-Rokítansky-Küster-Hauser (MRKH) syndrome: Diagnostic and therapeutic approach of a rare disease. Colomb. Med. [online]. 2011, vol.42, n.3, pp.369-372. ISSN 1657-9534.

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.

Palavras-chave : Rokitansky; Vagina agenesis; Uterus agenesis; Amenorrhea; Neovagina; Laparoscopy.

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