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

• 作者: ã Alberto Krayyem Arbex Ana Luísa Conceiç Diana Aristótelis de Sá Guilherme Carolino Neves Jonathan Mwambire Laís Figueira Bandoli Larissa Bianca Cunha de Sá Lucas Caraline de Almeida Coelho Lucas Ferreira de Paula Filho Nathália de Souza Ferreira Feital o de Jesus Renan Vieira Murad
• 来源期刊: 健康(英文)
• 学科: 医学
• 关键词: Mayer-Rokitansky-Kuster-Hauser SYNDROME Primary AMENORRHEA Gonadal DYSGENESIS
• 年，卷（期）: 2019,（10）
• 页码范围: 1367-1372
• 页数: 6页
• 分类号: R73

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.