韦德曼-施泰纳综合征男孩生长激素缺乏症：病例报告与综述。

IF 2.8 Q3 ENDOCRINOLOGY & METABOLISM

Annals of Pediatric Endocrinology & Metabolism Pub Date : 2023-12-01 Epub Date: 2022-06-30 DOI:10.6065/apem.2244052.026

Mi Ra Kim, Eun-Gyong Yoo, Seonkyeong Rhie, Go Hun Seo, Mo Kyung Jung

引用次数: 0

摘要

Wiedemann-Steiner综合征(WSS)是一种罕见的遗传疾病，其特征是广泛的表型谱，包括面部畸形、多毛、张力低下、身材矮小和发育迟缓。已知赖氨酸(K)特异性甲基转移酶2A (KMT2A)基因突变可导致WSS。一个身材矮小的2岁男孩到我们的儿科内分泌科诊所进行诊断检查。除了身材矮小外，他还有其他WSS的症状，包括畸形特征和发育迟缓。进行全外显子组测序以诊断任何潜在的遗传疾病;检测到KMT2A:c.731T>G(p.Leu244*)突变体的存在。由于患者在18个月后出现生长速度下降，因此进行了生长激素激发试验以检查生长激素(GH)缺乏。患者的峰值生长激素水平为6.96 ng/mL，并开始重组人生长激素治疗。据我们所知，小儿WSS合并生长激素缺乏症(GHD)是韩国首例此类报告。矮小的儿童患者应考虑WSS的可能性，特别是在存在其他临床症状的情况下，如畸形特征和发育迟缓。

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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Growth hormone deficiency in a boy with Wiedemann-Steiner syndrome: a case report and review.

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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.