PDF(Pubmed)
Abstract：
MRKH syndrome, or Mayer-Rokitansky-Küster-Hauser syndrome, a rare congenital disease, manifests as a complete or partial aplasia of the uterus and the vagina\'s upper two-thirds with normal external genitalia and functioning ovaries. Mayer-Rokitansky-Küster-Hauser syndrome can occur in isolation (type I) or in conjunction with other congenital extragenital deformities affecting the kidneys, skeleton, heart, eyes, or auditory system (type II). The diagnosis of Mayer-Rokitansky-Küster-Hauser syndrome typically relies on imaging studies, with transabdominal ultrasonography serving as the primary modality. However, magnetic resonance imaging is considered the gold standard for detailed assessment of internal genital anatomy. We present the case of an 18-year-old woman without any notable medical history who exhibited primary amenorrhea. Mayer-Rokitansky-Küster-Hauser syndrome type II was suspected on pelvic ultrasound and subsequently confirmed via magnetic resonance imaging. The patient was provided with psychological assistance and planned for vaginoplasty.
摘要：
MRKH综合征,或者Mayer-Rokitansky-Küster-Hauser综合征,一种罕见的先天性疾病,表现为子宫和阴道上三分之二的完全或部分发育不全，外生殖器正常，卵巢正常。Mayer-Rokitansky-Küster-Hauser综合征可以孤立地发生（I型），也可以与影响肾脏的其他先天性外生殖器畸形一起发生，骷髅,心,眼睛,或听觉系统（II型）。Mayer-Rokitansky-Küster-Hauser综合征的诊断通常依赖于影像学检查，以经腹部超声检查为主要方式。然而,磁共振成像被认为是详细评估内生殖器解剖结构的金标准。我们介绍了一名18岁女性，没有任何明显的病史，表现出原发性闭经。在盆腔超声检查中怀疑Mayer-Rokitansky-Küster-Hauser综合征II型，随后通过磁共振成像证实。为患者提供了心理援助，并计划进行阴道成形术。
