目的 探讨超声与MRI对MRKH综合征的影像学诊断效能，并探讨人工智能(AI)在该疾病诊断及手术规划中的潜在价值。方法 选取2018年7月~2025年5月于中国人民解放军陆军第七十三集团军医院经超声及MRI检查诊断为MRKH综合征的患者作为研究对象，共28例，收集所有患者的临床特点及影像学资料，临床确诊为金标准，回顾性整理分析MRKH综合征在超声及MRI的图像表现特征，比较不同检查方法对MRKH综合征的检出率。结果 28例MRKH均无阴道，26例表现为盆腔左右两侧各可见一个梭形的始基子宫，其中仅有1例双侧始基子宫MRI显示都有宫腔影，其余25例均未见子宫内膜及宫颈，两侧始基子宫下缘呈条索状带相连接于膀胱后方；2例表现为盆腔内只见1个始基子宫，未见子宫内膜及宫颈；1例单侧始基子宫合并巨大肌瘤，手术后仍见双侧始基子宫；28例MRKH双侧卵巢位置正常，有1侧卵巢合并畸胎瘤；27例条索状带超声表现回声均匀，1例呈蚯蚓状回声，血流丰富呈静脉曲张表现。在经腹部超声或经直肠超声检查中，共检出46个始基子宫，漏诊8个，检出率85.2%；在MRI检查中，共检出49个始基子宫，漏诊5个，检出率90.7%；在超声联合MRI检查中，共检出53个始基子宫，漏诊1个，检出率98.1%。超声对MRKH检出率与MRI比较差异无显著性（P＞0.05），而超声联合MRI对MRKH综合征的检出率和诊断符合率显著高于单项超声检查（P＜0.05）。结论超声与MRI对MRKH综合征的检出率均较高，但超声与MRI联合检查其诊断价值更为显著，可多方位、多角度以及更清晰的显示病灶情况，更有利于指导临床医生进行治疗。

Objective To investigate the diagnostic efficacy of ultrasound and magnetic resonance imaging (MRI) in Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, while exploring the potential applications of artificial intelligence (AI) in disease diagnosis and surgical planning. MethodsA retrospective analysis was conducted on 28 patients diagnosed with MRKH syndrome via ultrasound and MRI at 73rd Group Army hospital of the People’s Liberation Army of China from July 2018 to May 2025. Clinical and imaging data were collected, with surgical confirmation as the gold standard. Imaging characteristics of MRKH syndrome on ultrasound and MRI were analyzed, and detection rates between modalities were compared. ResultsThe result showed that all 28 cases of MRKH had no vagina. Among them, 26 cases presented with a spindle-shaped primordial uterus on both sides of the pelvis. Only one case had a uterine cavity shadow in both primordial uteri as shown by MRI, while the remaining 25 cases had no endometrium or cervix. The lower margins of the primordial uteri on both sides were connected by a cord-like band behind the bladder. Two cases presented with only one primordial uterus in the pelvis, without endometrium or cervix. One case had a unilateral primordial uterus combined with a huge myoma, and both primordial uteri were still visible after surgery. The ovaries were in normal positions in both sides in all 28 cases of MRKH, and one ovary was combined with a teratoma. The cord-like band showed uniform echo in 27 cases and a worm-like echo in one case, with rich blood flow and varicose vein-like appearance. In abdominal or transrectal ultrasound examination, 46 primordial uteri were detected, with 8 missed, and the detection rate was 85.2%. In MRI examination, 49 primordial uteri were detected, with 5 missed, and the detection rate was 90.7%. In the combined ultrasound and MRI examination, 53 primordial uteri were detected, with 1 missed, and the detection rate was 98.1%. There was no significant difference in the detection rate of MRKH between ultrasound and MRI (P>0.05), while the detection rate and diagnostic accuracy of MRKH syndrome by the combined ultrasound and MRI were significantly higher than those by single ultrasound examination (P<0.05). ConclusionBoth ultrasound and MRI exhibit high sensitivity for MRKH syndrome, yet their combined use provides superior diagnostic value through multi-dimensional visualization of anatomical anomalies, offering critical guidance for clinical management.