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

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