Antoinette Cameron-Pimblett, Clementina La Rosa, Melanie C Davies, Jenifer P Suntharalingham, Miho Ishida, John C Achermann, Gerard S Conway
{"title":"特纳综合征相关糖尿病的特征。","authors":"Antoinette Cameron-Pimblett, Clementina La Rosa, Melanie C Davies, Jenifer P Suntharalingham, Miho Ishida, John C Achermann, Gerard S Conway","doi":"10.1210/clinem/dgae357","DOIUrl":null,"url":null,"abstract":"<p><strong>Context: </strong>Diabetes mellitus (DM) risk factors in Turner Syndrome (TS) may include autoimmunity, obesity, beta-cell dysfunction, genetic predisposition and insulin resistance (IR).</p><p><strong>Objective: </strong>Evaluate glucose tolerance and DM risk factors in adults with TS.</p><p><strong>Design: </strong>A single centre study with two phases. To determine the prevalence of DM and to assess diabetes risk markers comparing women with TS with and without impaired glucose tolerance (IGT).</p><p><strong>Setting: </strong>Tertiary referral center, University College Hospitals.</p><p><strong>Patients: </strong>106 Women with TS (age range 18-70 years) undergoing annual health surveillance.</p><p><strong>Interventions: </strong>Participants underwent oral glucose tolerance tests (OGTT), with additional samples for autoimmunity and genetic analysis.</p><p><strong>Main outcome measure: </strong>Glucose tolerance, insulin, autoimmune and single nucleotide polymorphism (SNP) profile.</p><p><strong>Results: </strong>OGTT screening showed that those without a previous DM diagnosis, 72.7% had normal glucose tolerance, 19.5% had IGT, and 7.6% were newly diagnosed with DM. OGTT identified more cases of DM than HbAc1 sampling alone. Women with IGT or DM were older, with higher body mass index and IR. No association was found between autoimmune markers GAD, IA-2 and ZnT8, risk karyotypes or selected SNPs and DM. In DM cases, GAD positivity was associated with requirement for insulin therapy. The median age of onset of the diagnosis of DM was 36 years (range 11-56).</p><p><strong>Conclusions: </strong>In the spectrum of DM subtypes, TS-associated DM lies between type 1 and type 2 DM with features of both. Key factors include weight and IR. Assessing C-peptide or GAD antibodies may aid future insulin requirement.</p>","PeriodicalId":50238,"journal":{"name":"Journal of Clinical Endocrinology & Metabolism","volume":null,"pages":null},"PeriodicalIF":5.0000,"publicationDate":"2024-07-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Characterization of Turner Syndrome-associated diabetes mellitus.\",\"authors\":\"Antoinette Cameron-Pimblett, Clementina La Rosa, Melanie C Davies, Jenifer P Suntharalingham, Miho Ishida, John C Achermann, Gerard S Conway\",\"doi\":\"10.1210/clinem/dgae357\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Context: </strong>Diabetes mellitus (DM) risk factors in Turner Syndrome (TS) may include autoimmunity, obesity, beta-cell dysfunction, genetic predisposition and insulin resistance (IR).</p><p><strong>Objective: </strong>Evaluate glucose tolerance and DM risk factors in adults with TS.</p><p><strong>Design: </strong>A single centre study with two phases. To determine the prevalence of DM and to assess diabetes risk markers comparing women with TS with and without impaired glucose tolerance (IGT).</p><p><strong>Setting: </strong>Tertiary referral center, University College Hospitals.</p><p><strong>Patients: </strong>106 Women with TS (age range 18-70 years) undergoing annual health surveillance.</p><p><strong>Interventions: </strong>Participants underwent oral glucose tolerance tests (OGTT), with additional samples for autoimmunity and genetic analysis.</p><p><strong>Main outcome measure: </strong>Glucose tolerance, insulin, autoimmune and single nucleotide polymorphism (SNP) profile.</p><p><strong>Results: </strong>OGTT screening showed that those without a previous DM diagnosis, 72.7% had normal glucose tolerance, 19.5% had IGT, and 7.6% were newly diagnosed with DM. OGTT identified more cases of DM than HbAc1 sampling alone. Women with IGT or DM were older, with higher body mass index and IR. No association was found between autoimmune markers GAD, IA-2 and ZnT8, risk karyotypes or selected SNPs and DM. In DM cases, GAD positivity was associated with requirement for insulin therapy. The median age of onset of the diagnosis of DM was 36 years (range 11-56).</p><p><strong>Conclusions: </strong>In the spectrum of DM subtypes, TS-associated DM lies between type 1 and type 2 DM with features of both. Key factors include weight and IR. Assessing C-peptide or GAD antibodies may aid future insulin requirement.</p>\",\"PeriodicalId\":50238,\"journal\":{\"name\":\"Journal of Clinical Endocrinology & Metabolism\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":5.0000,\"publicationDate\":\"2024-07-04\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of Clinical Endocrinology & Metabolism\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1210/clinem/dgae357\",\"RegionNum\":2,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"ENDOCRINOLOGY & METABOLISM\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Clinical Endocrinology & Metabolism","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1210/clinem/dgae357","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"ENDOCRINOLOGY & METABOLISM","Score":null,"Total":0}
Characterization of Turner Syndrome-associated diabetes mellitus.
Context: Diabetes mellitus (DM) risk factors in Turner Syndrome (TS) may include autoimmunity, obesity, beta-cell dysfunction, genetic predisposition and insulin resistance (IR).
Objective: Evaluate glucose tolerance and DM risk factors in adults with TS.
Design: A single centre study with two phases. To determine the prevalence of DM and to assess diabetes risk markers comparing women with TS with and without impaired glucose tolerance (IGT).
Setting: Tertiary referral center, University College Hospitals.
Patients: 106 Women with TS (age range 18-70 years) undergoing annual health surveillance.
Interventions: Participants underwent oral glucose tolerance tests (OGTT), with additional samples for autoimmunity and genetic analysis.
Main outcome measure: Glucose tolerance, insulin, autoimmune and single nucleotide polymorphism (SNP) profile.
Results: OGTT screening showed that those without a previous DM diagnosis, 72.7% had normal glucose tolerance, 19.5% had IGT, and 7.6% were newly diagnosed with DM. OGTT identified more cases of DM than HbAc1 sampling alone. Women with IGT or DM were older, with higher body mass index and IR. No association was found between autoimmune markers GAD, IA-2 and ZnT8, risk karyotypes or selected SNPs and DM. In DM cases, GAD positivity was associated with requirement for insulin therapy. The median age of onset of the diagnosis of DM was 36 years (range 11-56).
Conclusions: In the spectrum of DM subtypes, TS-associated DM lies between type 1 and type 2 DM with features of both. Key factors include weight and IR. Assessing C-peptide or GAD antibodies may aid future insulin requirement.
期刊介绍:
The Journal of Clinical Endocrinology & Metabolism is the world"s leading peer-reviewed journal for endocrine clinical research and cutting edge clinical practice reviews. Each issue provides the latest in-depth coverage of new developments enhancing our understanding, diagnosis and treatment of endocrine and metabolic disorders. Regular features of special interest to endocrine consultants include clinical trials, clinical reviews, clinical practice guidelines, case seminars, and controversies in clinical endocrinology, as well as original reports of the most important advances in patient-oriented endocrine and metabolic research. According to the latest Thomson Reuters Journal Citation Report, JCE&M articles were cited 64,185 times in 2008.