Characterization of Turner Syndrome-associated diabetes mellitus.

IF 5 2区 医学 Q1 ENDOCRINOLOGY & METABOLISM
Antoinette Cameron-Pimblett, Clementina La Rosa, Melanie C Davies, Jenifer P Suntharalingham, Miho Ishida, John C Achermann, Gerard S Conway
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引用次数: 0

Abstract

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.

特纳综合征相关糖尿病的特征。
背景:特纳综合征(TS)的糖尿病(DM)风险因素可能包括自身免疫、肥胖、β细胞功能障碍、遗传易感性和胰岛素抵抗(IR):评估TS成人的葡萄糖耐量和糖尿病风险因素:设计:单中心研究,分两个阶段。确定糖尿病的患病率,并评估糖尿病风险指标,对患有糖耐量受损(IGT)和未患有糖耐量受损(IGT)的 TS 妇女进行比较:地点:大学学院医院三级转诊中心:106名患有TS的女性(年龄在18-70岁之间)接受年度健康监测:主要结果指标:糖耐量、胰岛素、自身免疫和单核苷酸多态性(SNP)特征:结果:OGTT 筛查结果显示,既往未确诊为 DM 的患者中,72.7% 糖耐量正常,19.5% 患有 IGT,7.6% 新确诊为 DM。与单纯的 HbAc1 采样相比,OGTT 发现了更多的 DM 病例。患有 IGT 或 DM 的妇女年龄较大,体重指数和 IR 值较高。在自身免疫标记物 GAD、IA-2 和 ZnT8、风险核型或选定的 SNPs 与 DM 之间未发现任何关联。在 DM 病例中,GAD 阳性与胰岛素治疗需求有关。DM诊断的发病年龄中位数为36岁(11-56岁):结论:在DM亚型谱中,TS相关DM介于1型和2型DM之间,具有两者的特征。关键因素包括体重和红外。评估 C 肽或 GAD 抗体可能有助于未来的胰岛素需求。
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来源期刊
Journal of Clinical Endocrinology & Metabolism
Journal of Clinical Endocrinology & Metabolism 医学-内分泌学与代谢
CiteScore
11.40
自引率
5.20%
发文量
673
审稿时长
1 months
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.
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