Abstract：
BACKGROUND: 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.
METHODS: 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).
METHODS: Tertiary referral center, University College Hospitals.
METHODS: 106 Women with TS (age range 18-70 years) undergoing annual health surveillance.
METHODS: Participants underwent oral glucose tolerance tests (OGTT), with additional samples for autoimmunity and genetic analysis.
METHODS: 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.
OBJECTIVE: Evaluate glucose tolerance and DM risk factors in adults with TS.
METHODS: 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).
METHODS: Tertiary referral center, University College Hospitals.
METHODS: 106 Women with TS (age range 18-70 years) undergoing annual health surveillance.
METHODS: Participants underwent oral glucose tolerance tests (OGTT), with additional samples for autoimmunity and genetic analysis.
METHODS: 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.
摘要：
背景：特纳综合征（TS）的糖尿病（DM）危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）。
目的：评估成人TS患者的糖耐量和DM危险因素。
方法：单中心研究分为两个阶段。确定DM的患病率并评估糖尿病风险标志物，比较有和没有糖耐量受损（IGT）的TS女性。
方法：三级转诊中心，大学学院医院。
方法：106名患有TS（年龄范围18-70岁）的女性接受年度健康监测。
方法：参与者接受口服葡萄糖耐量试验（OGTT），额外的样本用于自身免疫和遗传分析。
方法：葡萄糖耐量，胰岛素，自身免疫和单核苷酸多态性（SNP）谱。
结果：OGTT筛查显示那些没有糖尿病诊断的患者，72.7%糖耐量正常,19.5%患有IGT，新诊断为DM的占7.6%。OGTT确定的DM病例比单独的HbAc1采样更多。患有IGT或DM的女性年龄较大，具有较高的体重指数和IR。自身免疫标志物GAD之间没有发现关联，IA-2和ZnT8，风险核型或选定的SNP和DM。在DM病例中,GAD阳性与胰岛素治疗的需求相关。诊断为DM的中位发病年龄为36岁（范围11-56）。
结论：在DM亚型谱中，TS关联的DM位于类型1和类型2DM之间,具有两者的特征。关键因素包括体重和IR。评估C肽或GAD抗体可能有助于未来的胰岛素需求。
目的：评估成人TS患者的糖耐量和DM危险因素。
方法：单中心研究分为两个阶段。确定DM的患病率并评估糖尿病风险标志物，比较有和没有糖耐量受损（IGT）的TS女性。
方法：三级转诊中心，大学学院医院。
方法：106名患有TS（年龄范围18-70岁）的女性接受年度健康监测。
方法：参与者接受口服葡萄糖耐量试验（OGTT），额外的样本用于自身免疫和遗传分析。
方法：葡萄糖耐量，胰岛素，自身免疫和单核苷酸多态性（SNP）谱。
结果：OGTT筛查显示那些没有糖尿病诊断的患者，72.7%糖耐量正常,19.5%患有IGT，新诊断为DM的占7.6%。OGTT确定的DM病例比单独的HbAc1采样更多。患有IGT或DM的女性年龄较大，具有较高的体重指数和IR。自身免疫标志物GAD之间没有发现关联，IA-2和ZnT8，风险核型或选定的SNP和DM。在DM病例中,GAD阳性与胰岛素治疗的需求相关。诊断为DM的中位发病年龄为36岁（范围11-56）。
结论：在DM亚型谱中，TS关联的DM位于类型1和类型2DM之间,具有两者的特征。关键因素包括体重和IR。评估C肽或GAD抗体可能有助于未来的胰岛素需求。
