{"title":"SHORT Syndrome: an Update on Pathogenesis and Clinical Spectrum.","authors":"Naama Fisch Shvalb","doi":"10.1007/s11892-022-01495-8","DOIUrl":null,"url":null,"abstract":"<p><strong>Purpose of review: </strong>This review describes the unique pathogenesis of SHORT syndrome, a rare genetic form of insulin resistance syndrome, and recent advances in understanding the underlying mechanisms. SHORT syndrome results from dysfunction of PI3K, but the mechanisms behind the clinical manifestations are not entirely understood. Elucidating these mechanisms may contribute to the understanding of the roles of insulin signaling and PI3K signaling in humans. There are paucity of data on treatment and outcomes.</p><p><strong>Recent findings: </strong>The clinical spectrum of the disorder appears wider than previously understood, and overlaps with other clinical syndromes. PI3K malfunction is associated with insulin resistance, decreased lipogenesis, increased energy expenditure, and possible IGF1 resistance. SHORT syndrome may be underdiagnosed, and should be considered in individuals with growth failure, craniofacial dysmorphism, and lipodystrophy. Much is still unknown about the optimal management and long-term outcomes.</p>","PeriodicalId":10898,"journal":{"name":"Current Diabetes Reports","volume":"22 12","pages":"571-577"},"PeriodicalIF":5.2000,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"1","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Current Diabetes Reports","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1007/s11892-022-01495-8","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"ENDOCRINOLOGY & METABOLISM","Score":null,"Total":0}
引用次数: 1
Abstract
Purpose of review: This review describes the unique pathogenesis of SHORT syndrome, a rare genetic form of insulin resistance syndrome, and recent advances in understanding the underlying mechanisms. SHORT syndrome results from dysfunction of PI3K, but the mechanisms behind the clinical manifestations are not entirely understood. Elucidating these mechanisms may contribute to the understanding of the roles of insulin signaling and PI3K signaling in humans. There are paucity of data on treatment and outcomes.
Recent findings: The clinical spectrum of the disorder appears wider than previously understood, and overlaps with other clinical syndromes. PI3K malfunction is associated with insulin resistance, decreased lipogenesis, increased energy expenditure, and possible IGF1 resistance. SHORT syndrome may be underdiagnosed, and should be considered in individuals with growth failure, craniofacial dysmorphism, and lipodystrophy. Much is still unknown about the optimal management and long-term outcomes.
期刊介绍：
The goal of this journal is to publish cutting-edge reviews on subjects pertinent to all aspects of diabetes epidemiology, pathophysiology, and management. We aim to provide incisive, insightful, and balanced contributions from leading experts in each relevant domain that will be of immediate interest to a wide readership of clinicians, basic scientists, and translational investigators.
We accomplish this aim by appointing major authorities to serve as Section Editors in key subject areas across the discipline. Section Editors select topics to be reviewed by leading experts who emphasize recent developments and highlight important papers published over the past year on their topics, in a crisp and readable format. We also provide commentaries from well-known figures in the field, and an Editorial Board of internationally diverse members suggests topics of special interest to their country/region and ensures that topics are current and include emerging research.
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