Insufficient sensitivity of hemoglobin A(₁C) determination in diagnosis or screening of early diabetic states.

An International Expert Committee made recommendations for using the hemoglobin A(₁C) (A1C) assay as the preferred method for the diagnosis of diabetes in nonpregnant individuals. A concentration of at least 6.5% was considered as diagnostic.

Obesity and hyperinsulinemia in a family with pancreatic agenesis and MODY caused by the IPF1 mutation Pro63fsX60.

We studied the genetic and clinical features of diabetic subjects in a 5-generation Michigan-Kentucky pedigree ascertained through a proband with pancreatic agenesis and homozygous for the IPF1 mutation Pro63fsx60. Diabetic and nondiabetic family members were genotyped and phenotyped. We also carried out genetic studies to determine the history of the IPF1 mutation in the Michigan-Kentucky family and a Virginia family with the same mutation.

Hemoglobin A1c for the diagnosis of diabetes: practical considerations.

The International Expert Committee recommends that the diagnosis of diabetes be made if hemo globin A1c (HbA1c) level is greater, similar 6.5% and confirmed with a repeat HbA1c test. The committee recommends against "mixing different methods to diagnose diabetes" because "the tests are not completely concordant: using different tests could easily lead to confusion".

Neonatal diabetes mellitus with pancreatic agenesis in an infant with homozygous IPF-1 Pro63fsX60 mutation.

Permanent neonatal diabetes mellitus is a rare disorder known to be caused by activating mutations in KCNJ11 or ABCC8, inactivating mutations in INS, or very rarely in GCK or insulin promotor factor-1 (IPF-1) genes. We report a patient with permanent neonatal diabetes mellitus and severe exocrine pancreatic insufficiency. Ultrasound examination revealed pancreatic agenesis with a suggestion of a small amount of tissue in the head of the pancreas.