Bhat Javaid Ahmad, Bhat Moomin Hussain, Masoodi Shariq Rashid, Ahmad Hilal, Ahmad Peerzada Ovais, Wangnoo Bisma Rashid, Bashir Mir Iftikhar, Wani Arshad Iqbal, Misgar Raiz Ahmad, Rashid Imtiyaz, Ganai Bashir Ahmad, Nissar Kamran, Shah Zafar Amin
Department of Endocrinology, Superspeciality Hospital, GMC, Srinagar, Jammu and Kashmir, India.
Department of Endocrinology, Sher-i-Kashmir Institute of Medical Sciences, Srinagar, Jammu and Kashmir, India.
Indian J Endocrinol Metab. 2022 Nov-Dec;26(6):543-550. doi: 10.4103/ijem.ijem_334_22. Epub 2023 Feb 7.
Maturity onset diabetes of young (MODY) is considered to be the most underdiagnosed condition. The correct diagnosis of MODY has a definite bearing on the outcome and clinical course of the disease. We aim to determine the prevalence and clinical profile of MODY among young diabetic patients attending at Department of Endocrinology, a tertiary care institute in North India.
It was a cross-sectional study involving all consecutive consenting patients with diabetes and age of onset ≤35 years. A total of 1,094 patients were included in this study, of whom 858 were having age of onset of diabetes <25 years. All patients were screened for MODY using clinical criteria and MODY Probability calculator (available on diabetesgenes.org). Patients with high clinical probability of MODY having negative anti-GAD65 antibody and fasting serum C-peptide levels >0.6 ng/mL were subjected to the Ala98 Val polymorphism (SNP) in hepatocyte nuclear factor (HNF) 1a gene.
The prevalence of MODY among the study cohort as per clinical criteria was found to be 7.7%. Males constituted the majority of patients (male vs female, 56% vs. 44%; < 0.001). The patients with MODY were younger ( < 0.001), leaner ( < 0.001), had younger age at onset of diabetes mellitus ( < 0.001), and lower frequency of features of insulin resistance in the form of skin tags and acanthosis nigricans. Among the 40 patients who were subjected to Ala98Val polymorphism of HNF1α gene (MODY 3), the mutant genotype was seen in 20 (50%) patients.
We report a higher prevalence of MODY in our young diabetic patients. A high index of suspicion is required to diagnose MODY as misdiagnosis and inappropriate treatment may have a significant impact on quality-of-life (QOL) with increased cost and unnecessary treatment with insulin.
青年发病的成年型糖尿病（MODY）被认为是诊断最不足的疾病。MODY的正确诊断对疾病的结局和临床病程有明确影响。我们旨在确定印度北部一家三级医疗机构内分泌科就诊的年轻糖尿病患者中MODY的患病率和临床特征。
这是一项横断面研究，纳入所有连续同意参与的糖尿病患者且发病年龄≤35岁。本研究共纳入1094例患者，其中858例糖尿病发病年龄<25岁。所有患者均使用临床标准和MODY概率计算器（可在diabetesgenes.org上获取）进行MODY筛查。临床高度怀疑MODY且抗GAD65抗体阴性、空腹血清C肽水平>0.6 ng/mL的患者接受肝细胞核因子（HNF）1α基因的Ala98 Val多态性（SNP）检测。
根据临床标准，研究队列中MODY的患病率为7.7%。男性患者占多数（男性与女性之比为56%对44%；P<0.001）。MODY患者更年轻（P<0.001）、更瘦（P<0.
