A Korean child with DICER1 syndrome presenting with thyroid manifestations accompanied by other types of neoplasms: a case report and literature review.

IF 2.8 Q3 ENDOCRINOLOGY & METABOLISM

Annals of Pediatric Endocrinology & Metabolism Pub Date : 2023-12-01 Epub Date: 2023-02-03 DOI:10.6065/apem.2244206.103

Minji Kim, Jun Lee, Sukdong Yoo, Ji Yeon Song, Eu Jeen Yang, Seong Heon Kim, Chong Kun Cheon, Ju Young Yoon

引用次数: 0

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一名患有DICER1综合征的韩国儿童，其甲状腺表现伴有其他类型的肿瘤：病例报告和文献综述。

我们有一个罕见的病例，一个8岁的女孩被诊断为DICER1综合征。患者表现出肾脏和甲状腺症状。在家族史上，患者的外祖母和阿姨有多结节性甲状腺肿的诊断。患者接受了全外显子组测序(WES)来检查她是否患有癌症易感综合征，包括DICER1综合征。结果显示DICER1基因21外显子存在杂合错义突变c.3506C>G (p.S1169*)。进行Sanger测序以确认WES检测到的DICER1变异，并检查患者的家庭成员是否在同一DICER1外显子上发生突变。患者的两个兄弟姐妹和父亲基因检测为阴性，但患者的母亲DICER1致病性变异检测为阳性。患者16岁时，右鼻腔有息肉样肿块。经组织病理学检查，发现患者患有鼻软骨间充质错构瘤。我们的病例显示了DICER1综合征的纵向时间病程，这在韩国文献中没有描述。总之，我们的病例强调了甲状腺诊断检查的重要性;临床医生应考虑儿童或青少年甲状腺疾病伴常见肿瘤的DICER1综合征的可能性。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Annals of Pediatric Endocrinology & Metabolism Multiple-

CiteScore

4.00

自引率

18.20%

发文量

审稿时长

24 weeks

期刊介绍： The Annals of Pediatric Endocrinology & Metabolism Journal is the official publication of the Korean Society of Pediatric Endocrinology. Its formal abbreviated title is “Ann Pediatr Endocrinol Metab”. It is a peer-reviewed open access journal of medicine published in English. The journal was launched in 1996 under the title of ‘Journal of Korean Society of Pediatric Endocrinology’ until 2011 (pISSN 1226-2242). Since 2012, the title is now changed to ‘Annals of Pediatric Endocrinology & Metabolism’. The Journal is published four times per year on the last day of March, June, September, and December. It is widely distributed for free to members of the Korean Society of Pediatric Endocrinology, medical schools, libraries, and academic institutions. The journal is indexed/tracked/covered by web sites of PubMed Central, PubMed, Emerging Sources Citation Index (ESCI), Scopus, EBSCO, EMBASE, KoreaMed, KoMCI, KCI, Science Central, DOI/CrossRef, Directory of Open Access Journals(DOAJ), and Google Scholar. The aims of Annals of Pediatric Endocrinology & Metabolism are to contribute to the advancements in the fields of pediatric endocrinology & metabolism through the scientific reviews and interchange of all of pediatric endocrinology and metabolism. It aims to reflect the latest clinical, translational, and basic research trends from worldwide valuable achievements. In addition, genome research, epidemiology, public education and clinical practice guidelines in each country are welcomed for publication. The Journal particularly focuses on research conducted with Asian-Pacific children whose genetic and environmental backgrounds are different from those of the Western. Area of specific interest include the following : Growth, puberty, glucose metabolism including diabetes mellitus, obesity, nutrition, disorders of sexual development, pituitary, thyroid, parathyroid, adrenal cortex, bone or other endocrine and metabolic disorders from infancy through adolescence.