青少年发病的成人型糖尿病(maturity-onset diabetes of the young,MODY)是由于单基因突变导致胰岛B细胞功能缺陷所致,多呈常染色体显性遗传。MODY约占糖尿病的1%~3%,是一种较为少见的特殊类型糖尿病,MODY与其他类型糖尿病的临床特征存在重叠,仅依靠临床特征,确诊率偏低,常误诊为1型、2型或妊娠糖尿病~([1])。随着分子遗传学近年来的蓬勃发展,基因测序技术逐渐应用于单基因糖尿病的病因 Maturity-onset diabetes of the young (MODY) is due to single-gene mutations lead to functional defects of islet B cells, mostly autosomal dominant inheritance. MODY accounts for 1% to 3% of diabetes mellitus, is a relatively rare type of diabetes. MODY and other types of diabetes have overlapping clinical features. Depending on the clinical features, MODY has a low diagnosis and is often misdiagnosed as type 1 and type 2 Or gestational diabetes ~ ([1]). With the rapid development of molecular genetics in recent years, gene sequencing technology is gradually applied to the etiology of monogenic diabetes