本文报道1例17岁女性患者，因第二性征未发育和原发性闭经就诊。患者临床表现为听力下降、虹膜呈蓝色、双内眦增宽，并伴有身材矮小、双侧肘外翻及盾状胸。实验室检查提示低促性腺激素性性腺功能减退，同时合并不完全性生长激素缺乏。彩超检查显示始基子宫。全外显子组测序发现其SOX10基因存在c.1029dup （p.Thr344Hisfs*58）突变，确诊为瓦登伯格综合征（Waardenburg syndrome， WS）。Sanger测序验证该突变为新发突变，目前公共数据库中尚未收录该突变。家系调查结果显示，患者父母的外周血样本中未检出该突变。本报道突变丰富了WS疾病基因突变谱和临床相关数据。对于存在不明原因听力障碍、色素沉着异常伴生长发育迟缓的儿童，应考虑SOX10基因突变可能，尽早行基因检测以明确诊断。

This article reports a case of a 17-year-old female patient who presented with absent secondary sexual characteristics and primary amenorrhea. The patient's clinical manifestations included hearing loss, blue irides, and telecanthus, accompanied by short stature, bilateral cubitus valgus, and shield-shaped chest. Laboratory tests indicated hypogonadotropic hypogonadism with partial growth hormone deficiency, and ultrasound revealed a rudimentary uterus. Whole-exome sequencing identified a c.1029dup (p.Thr344Hisfs*58) mutation in the SOX10 gene, confirming the diagnosis of Waardenburg syndrome (WS). Sanger sequencing confirmed that this was a de novo mutation, which has not been reported in public databases. Family investigation showed that the mutation was not detected in peripheral blood samples from the patient's parents. This mutation expands the genetic mutation spectrum and clinical data of WS. In cases of unexplained hearing impairment, abnormal pigmentation, and growth retardation in children, SOX10 gene mutation should be conside-red, and genetic testing should be performed early to establish a diagnosis.