Early onset of liver steatosis in a Japanese girl with maturity-onset diabetes of the young type 3 (MODY3)

Maturity-onset diabetes of the young type 3 (mody3) is caused by heterozygous mutation in the hnf1a gene. liver adenomatosis has been reported in mody3 patients. the patient reported in this paper is a japanese girl who first developed hepatomegaly,fatty liver,and hepatic dysfunction at age 5 years. liver biopsy demonstrated steatosis and degeneration of hepatocytes. at that time,blood glucose and hba1c levels were within normal ranges. elevated hba1c was noticed 4 years later,but islet cell and glutamic acid decarboxylase antibodies were not detected in the serum. therefore,mody3 was suspected and subsequent analysis of the hnf1a gene identified a heterozygous germline splice donor-site mutation in intron 9. mody3 patients should be screened by non-invasive liver imaging,and careful follow-up of liver disease should be performed. ©journal of clinical research in pediatric endocrinology,published by galenos publishing.