A case of mitochondrial diabetes mellitus complicated with hypopituitarism and literature review / 中华内分泌代谢杂志

The clinical data of a patient with mitochondrial diabetes mellitus complicated with hypopituitarism were analyzed, the patient′s mitochondrial gene was detected by microarray capture high-throughput sequencing, and the related domestic and foreign literature was reviewed and analyzed. The results showed that the patient had m. 3243 A>G variant on MT-TL1 gene and the clinical features were consistent with mitochondrial diabetes mellitus and hypopituitarism.

Report of a pedigree of mitochondrial diabetes mellitus complicated with chronic hereditary pancreatitis / 中华内分泌代谢杂志

This study reported a family of mitochondrial diabetes mellitus complicated with chronic hereditary pancreatitis. A 18-year-old woman presented with self-reported hyperglycemia and chronic epigastric pain was admitted to our hospital. Clinical data and family history were collected. Mitochondrial gene sequencing and whole exon gene sequencing showed that the proband carried mutation of mt.3243A>G and heterozygous mutation of SPINK1 c. 194+ 2T>C, which was considered as mitochondrial diabetes mellitus with chronic pancreatitis.