Case Report: Clinical and Diagnostic Aspects of Mayer-Rokitansky-Kuster-Hauser Syndrome  

作　　者：Lucas Ferreira de Paula Filho Guilherme Carolino Neves Laís Figueira Bandoli Lucas Caraline de Almeida Coelho Nathália de Souza Ferreira Feital Renan Vieira Murad Ana Luísa Conceiç o de Jesus Diana Aristótelis de Sá Larissa Bianca Cunha de Sá Jonathan Mwambire Alberto Krayyem Arbex 

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

出　　处：《Health》2019年第10期1367-1372,共6页健康（英文）

摘　　要：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 (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.

关 键 词：Mayer-Rokitansky-Kuster-Hauser SYNDROME Primary AMENORRHEA Gonadal DYSGENESIS 

分 类 号：R73[医药卫生—肿瘤]