Abstract: Objective    To report a case of 17p13.3 microdeletion syndrome and summarize the clinical phenotype of 17p13.3 microdeletion syndrome without PAFAH1B1 gene deletion. Methods    This paper reports a patient who was first diagnosed as growth hormone deficiency in February 2014 and diagnosed as gonadal dysplasia with 17p13.3 microdeletion syndrome in July 2023 in the Department of Pediatrics of China-Japan Friendship Hospital. The clinical characteristics，diagnosis and treatment of 17p13.3 microdeletion syndrome without PAFAH1B1 gene deletion were summarized through literature review. Results    The patient is a 14-year-old girl who underwent ductus arteriosus closure surgery at the age of 4 due to patent ductus arteriosus. At 5 years and 5 months old，she was initially diagnosed with growth hormone deficiency due to growth retardation. Subsequently，she underwent 9 years of growth hormone therapy with satisfactory height gain. The patient exhibited delayed intellectual and motor development，and showed no secondary sexual characteristics at 14 years old. Hormone testing and ultrasound examination of the uterus and ovaries revealed gonadal dysgenesis，prompting the initiation of hormone replacement therapy. The patient displayed facial anomalies （slender head，broad forehead，high hairline，hypertelorism，low bridge of nose，broad tip of nose，low-set ears，micrognathia），short and curved fifth finger，and wide nipple spacing. Whole exome sequencing combined with copy number variation analysis (WES+CNVs) identified a heterozygous deletion of 2.24 MB in the chromosome 17p13.3 region，without PAFAH1B1 gene deletion，indicating haploinsufficiency of the YWHAE gene. To date，a total of 31 cases of 17p13.3 microdeletion syndrome with YWHAE gene defects have been reported worldwide，with this patient being the first case discovered with gonadal dysgenesis. Conclusion    For children with short stature and abnormal phenotypes，genetic disorders such as 17p13.3 microdeletion syndrome should be considered，and genetic testing should be performed to confirm the diagnosis. This disease not only leads to growth hormone deficiency，growth retardation，and facial abnormalities，but also can cause gonadal dysgenesis. Monitoring and precise treatment are necessary to improve the quality of life for affected children.

Key words: 17p13.3 microdeletion syndrome, YWHAE gene, short stature, abnormal face, gonadal dysgenesis

摘要： 目的    首次报告1例17p13.3微缺失综合征患儿所致性腺发育不良，并总结国内外无PAFAH1B1基因缺失17p13.3微缺失综合征患儿的临床表型。方法    文章报告1例2014年2月中日友好医院儿科初诊为生长激素缺乏症、2023年7月诊断为伴性腺发育不良的17p13.3微缺失综合征患儿，并进行文献回顾，总结无PAFAH1B1基因缺失17p13.3微缺失综合征患儿的临床特征及诊疗。结果    患儿，女，14岁，4岁时因动脉导管未闭接受封堵手术。5岁5月龄时因生长迟缓初诊，确诊生长激素缺乏症，此后生长激素治疗9年，身高增长满意。患儿智力运动发育落后，14岁时尚无第二性征发育，性激素检测及子宫卵巢超声检查显示性腺发育不良，开始性激素替代治疗。患儿面容异常（头部细长，前额宽，发际线高，眼距宽，鼻梁低，宽鼻尖，耳位低，小下颌），第五指短而弯曲，乳间距宽。全外显子+拷贝数变异分析技术（WES+CNVs）显示患儿染色体17p13.3区域存在2.24MB的杂合缺失，无PAFAH1B1基因缺失，为YWHAE基因单倍体剂量不足。迄今国内外共报道31例YWHAE基因缺陷的17p13.3微缺失综合征病例，该患儿为首例发现性腺发育不良的病例。结论    对于身材矮小且面容异常的患儿，应警惕17p13.3微缺失综合征等遗传病，需通过基因检测明确诊断。该病不仅导致生长激素缺乏、生长迟缓、面容异常等疾病，也可导致性腺发育不良，需注意监测，精准治疗，提升患儿生存质量。

关键词: 17p13.3微缺失综合征, YWHAE基因, 身材矮小, 异常面容, 性腺发育不良