Novoa Claudia Cristina Takano, Leite Mila Torii Correa, Sartori Marair Gracio Ferreira
Escola Paulista de Medicina Universidade Federal de São Paulo São PauloSP Brazil Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, SP, Brazil.
Rev Bras Ginecol Obstet. 2025 May 16;47. doi: 10.61622/rbgo/2025FPS4. eCollection 2025.
•Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH) is the leading cause of vaginal agenesis. •It is characterized by primary amenorrhea with typical adrenarche and telarche and may be associated with congenital urological and skeletal conditions that should be investigated. •Differential diagnoses include: vaginal obstructions (imperforate hymen, distal vaginal atresia, transverse vaginal septum), uterine obstructions (cervical atresia), and differences in sexual development (gonadal dysgenesis, complete androgen insensitivity and congenital adrenal hyperplasia due to CYP17 deficiency). •Laboratory tests (testosterone, follicle-stimulating hormone [FSH] and karyotype) and radiological tests (pelvic ultrasound and MRI) are necessary. •Vaginal dilation is the first line of treatment with high success rates.
•梅耶-罗基坦斯基-库斯特-豪泽综合征（MRKH）是阴道发育不全的主要原因。
•其特征为原发性闭经伴典型的肾上腺功能初现和乳房发育，可能与先天性泌尿系统和骨骼疾病有关，应进行相关检查。
•鉴别诊断包括：阴道梗阻（处女膜闭锁、阴道远端闭锁、阴道横隔）、子宫梗阻（宫颈闭锁）以及性发育差异（性腺发育不全、完全雄激素不敏感和因CYP17缺乏导致的先天性肾上腺皮质增生）。
•实验室检查（睾酮、促卵泡生成素[FSH]和核型）和影像学检查（盆腔超声和磁共振成像）是必要的。
•阴道扩张是成功率较高的一线治疗方法。
