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Abstract：
Silver-Russell syndrome (SRS) and Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome are described in isolation. However, their co-occurrence has only been rarely reported. Here, we present a case report of an adolescent with SRS who was diagnosed with MRKH during the evaluation of primary amenorrhoea. Multiplex ligation-dependent probe amplification analysis showed a normal methylation pattern and normal dosage at 11p15.5. A PubMed search for all peer-reviewed publications (original articles and reviews) using the key words Silver-Russell syndrome, Mayer-Rokitansky-Küster-Hauser syndrome, genetics, hypomethylation and reproductive anomalies identified three cases of SRS with MRKH, two of which were associated with significant hypomethylation of the H19 imprinting control region of the 11p15.5 locus. This report highlights the association between SRS and MRKH. The absence of hypomethylation and normal dosage at 11p15.5 suggests these two rare entities share alternative aetiopathogenic mechanisms.
摘要：
分别描述了Silver-Russell综合征（SRS）和Mayer-Rokitansky-Küster-Hauser（MRKH）综合征。然而,它们的共同发生很少被报道。这里,我们提供了一例患有SRS的青少年病例报告,该患者在评估原发性闭经时被诊断为MRKH.多重连接依赖性探针扩增分析在11p15.5显示正常甲基化模式和正常剂量。PubMed使用关键词Silver-Russell综合征搜索所有同行评审的出版物（原始文章和评论），Mayer-Rokitansky-Küster-Hauser综合征,遗传学,低甲基化和生殖异常确定了3例SRS伴MRKH，其中两个与11p15.5基因座的H19印迹控制区的显着低甲基化有关。本报告重点介绍了SRS和MRKH之间的关联。在11p15.5时没有低甲基化和正常剂量表明这两个稀有实体具有替代的致病机制。
