Author(s)

Lucas Ferreira de Paula Filho^1*, Guilherme Carolino Neves², Laís Figueira Bandoli², Lucas Caraline de Almeida Coelho², Nathália de Souza Ferreira Feital², Renan Vieira Murad², Ana Luísa Conceição de Jesus³, Diana Aristótelis de Sá¹, Larissa Bianca Cunha de Sá¹, Jonathan Mwambire⁴, Alberto Krayyem Arbex^1,4

¹IPEMED Medical School/AFYA Educational, Postgraduation in Endocrinology, Rio de Janeiro, Brazil.
²UNIFESO Medical School, Teresópolis, Brazil.
³Department of Pediatrics, Medical School, University of São Paulo (USP), São Paulo, Brazil.
⁴Medical Clinic in Endocrinology and Diabetology, Schleswig-Flensburg, Germany.

Mayer-Rokitansky-Kuster-Hauser Syndrome (MRKH) is a rare disease characterized by total or partial vagina agenesis, karyotype 46, XX with normal secondary sexual characters. Still, it is the second leading cause of primary amenorrhea. The absence of obvious signs and symptoms often causes the syndrome to be diagnosed only after puberty. The case presented here highlights exactly this difficulty of early diagnosis, which meets the objective of the study, and is precisely to provide reliable material that facilitates the diagnosis and management of patients with MRKH syndrome.

Mayer-Rokitansky-Kuster-Hauser Syndrome, Primary Amenorrhea, Gonadal Dysgenesis

Filho, L. , Neves, G. , Bandoli, L. , Coelho, L. , Feital, N. , Murad, R. , Jesus, A. , Sá, D. , Sá, L. , Mwambire, J. and Arbex, A. (2019) Case Report: Clinical and Diagnostic Aspects of Mayer-Rokitansky-Kuster-Hauser Syndrome. Health, 11, 1367-1372. doi: 10.4236/health.2019.1110105.