ESPE Abstracts

Maturity onset diabetes of the young (MODY) is a group of inherited disorders with a varying degree of severity, caused by variants in one of several genes (most common genes are: HNF1A, CGK, HNF4A, HNF1B), The majority of cases have impaired insulin secretion. Patients tend to present with hyperglycemia prior to age 25 years, but can present later in life. There is usually family history of diabetes. MODY accounts for 1-3% of all cases of diabetes. The GCK gene has been associated with the following phenotypes: MODY type 2 (AD), permanent neonatal diabetes mellitus 1 (AR), familial hyper-insulinemic hypoglycemia 3 (AD), late onset noninsulin-dependent diabetes mellitus (AD). We present the case of a thin pediatric patient with hyperglycemia, elevated HgA1c in the pre-diabetes range, with negative antibodies and family history of diabetes mellitus. She was found to have a CGK Gene nucleotide variant of uncertain clinical significance (Exon 4/10. c397G>A. p.Asp133Asn). C.394G>A has been reported in the literature in individuals affected with diabetes. Although this variant can not be definitively associated with the patient's phenotype, we postulate that most likely this is the cause for her hyperglycemia and elevated HgA1c, given her negative antibodies and family history of diabetes mellitus. Broome DT, Pantalone KM, Kashyap SR, Philipson LH. Approach to the Patient with MODY-Monogenic Diabetes. J Clin Endocrinol Metab. 2021 Jan 1;106(1):237-250. Tinto et al. Glucokinase gene mutations: structural and genotype-phenotype analyses in MODY children from South Italy. PLoS One. 2008 Apr 2;3(4):e1870. Bansal V et al. Spectrum of mutations in monogenic diabetes genes identified from high-throughput DNA sequencing of 6888 individuals. BMC Med. 2017 Dec 6;15(1):213. Tinto N et alGlucokinase gene mutations: structural and genotype-phenotype analyses in MODY children from South Italy. PLoS One. 2008 Apr 2;3(4):e1870.