Abstract: Objective　To report four patients with Mayer-Rokitansky-Küster-Hauser（MRKH） syndrome initially presented as premature thelarche to analyze its clinical characteristics improve the understanding of this disease. Methods　The clinical manifestations，lab examination results，imaging findings and genetic features of four girls with MRKH syndrome diagnosed from 2017 to 2020 in Fuzhou Children’s Hospital of Fujian Medical University were analyzed retrospectively. Results　In the 4 girls the age at diagnosis was 6.7-8.3 years. The girls all first presented with premature thelarche，and one of them also had premature pubarche. Gonadotropin releasing hormone stimulation test revealed that luteinizing hormone peaks in the girls were 3.57 IU/L，6.24 IU/L，11.5 IU/L and 4.44 IU/L respectively，follicle stimulating hormone peaks were 9.95 IU/L，16.7 IU/L，13.8 IU/L and 14.2 IU/L，respectively. Three girls were found being with absence of uterus and a girl with uterine dysplasia in pelvic ultrasonography. Magnetic resonance imaging（MRI） of the pelvis showed no uterus or cervix in four girls. Their bone ages were advanced and chromosome karyotypes were normal（46，XX）. No pathogenic variation was found by whole exome sequencing（WES） in patients 1，2 or 3 and no pathogenic variation was found by copy number variation sequencing（CNVs） in patients 2，3 or 4. Conclusion　If ultrasonography shows absence or dysplasia of uterus，MRKH syndrome should be considered. Pelvic MRI can help to confirm the diagnosis.

Key words: MRKH syndrome, child, premature thelarche

摘要： 目的　报告4例以乳房发育提前为首发症状的MRKH综合征（Mayer-Rokitansky-Küster-Hauser syndrome）患儿，并分析其临床特点，以提高对该病的认识。方法　回顾性分析福建医科大学附属福州儿童医院2017年11月至 2020年12月诊断的4例MRKH综合征患儿的临床表现、实验室检查、影像学及遗传学特点。结果　4例患儿首次就诊年龄为6岁9月龄至8岁4月龄，均因“乳房发育提前”就诊，其中1例伴有阴毛早现。4例促性腺激素释放激素（gonadotropin releasing hormone，GnRH）兴奋试验示黄体生成素（luteinizing hormone，LH）峰值分别为3.57、6.24、11.5、4.44 IU/L；卵泡刺激素（follicle stimulating hormone，FSH）峰值分别为9.95、16.7、13.8、14.2 IU/L。盆腔彩超检查发现3例子宫缺如、1例子宫发育不良。盆腔磁共振成像（MRI）检查均未显示子宫及宫颈。4例患儿骨龄均超前，染色体核型均正常（46，XX），例1、例2、例3行全外显子组测序（whole exome sequencing，WES）未发现致病性变异，例2、例3、例4行拷贝数变异（copy number variation sequencing，CNVs）检测未发现致病性变异。结论　超声检查发现子宫缺如或发育不良需考虑MRKH综合征，盆腔MRI 检查可帮助确诊。

关键词: MRKH综合征, 儿童, 性早熟