一例无常见临床特征的 14 岁少女 A 型胰岛素抵抗综合征。

IF 2.8 Q3 ENDOCRINOLOGY & METABOLISM

Annals of Pediatric Endocrinology & Metabolism Pub Date : 2023-12-01 Epub Date: 2023-02-01 DOI:10.6065/apem.2244106.053

Na Won Lee, Ji Eun Jeong, Young Hwan Kim, Chang Seok Ki, Jin Kyung Kim

引用次数: 0

摘要

背景:A型胰岛素抵抗综合征是一种罕见的先天性疾病，由胰岛素受体(INSR)基因杂合突变引起的胰岛素受体功能障碍引起。它通常被诊断为非肥胖的女性青少年与胰岛素抵抗，黑棘皮病，或卵巢雄激素过多。方法:我们报告了一名14岁的青春期女孩，患有非肥胖症糖尿病和胰岛素抵抗;然而，她没有黑棘皮病，也没有月经异常。实验室结果:空腹血糖179 mg/dL;c肽1.8 ng/mL;胰岛素34.8 lU/mL;糖化血红蛋白10.6%。胰岛细胞自身抗体、胰岛素自身抗体、谷氨酸脱羧酶抗体均为阴性。我们对已知的年轻人成熟型糖尿病进行了下一代基于测序的靶向基因面板，发现INSR基因c.3602G> a (p.a r1201gln)存在杂合突变。她的母亲携带了与她相同的突变，也没有出现黑棘皮病或月经异常。结论:A型胰岛素抵抗综合征即使在INSR基因同一位点发生相同类型的突变，其临床表型也存在差异。临床医生应该考虑进行基因检测，以便早期发现和适当的治疗方法。

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A case of type A insulin resistance syndrome in a 14-year-old adolescent girl without common clinical features.

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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.