ESPE Abstracts

Background: Monogenic diabetes is a type of diabetes resulting from mutations of a single gene that may be spontaneous de novo or autosomal dominant or recessive. Reported incidence is 1-4% and confirmed by molecular genetic testing. Transient neonatal diabetes is usually diagnosed within the first week of life and resolves around 12 weeks. Permanent neonatal diabetes should be considered in all children presenting with diabetes in first month of age, and do not resolve. Genetic diagnosis may have major effects on treatment. Here we describe a ADIPOQ gene as a cause neonatal insulin dependent diabetes mellitus in a Palestinian newborn. ADIPOQ (adiponectin) affects fatty acid oxidation, glucose uptake, and glycogenesis, all of which are involved in the development of diabetes. As a result, ADIPOQ has being studied as a potential gene for type 2 diabetes mellitus (T2DM), which is a polygenic disease with genetic inheritance.

Clinical Data: A newborn Palestinian patient presented with clinical picture of insulin dependent diabetes mellitus during first days of life, managed with insulin analogues.

Molecular Data: next generation sequencing revealed a likely pathogenic homozygous mutation in the ADIPOQ gene. The Homozygote frameshift GTGTGGGATTGGAGACT->G indel at chr3:186572105 is predicted to result in abnormal protein translation of the ADIPOQ protein at amino acid position 116.

Conclusion: Monogenic diabetes is not very uncommon, higher rate of consanguinity predicts higher risk and is often misdiagnosed as type 1 or type 2 diabetes. Diabetes diagnosed before 6 months of age will be monogenic diabetes and the underlying gene mutations can be identified in most of the cases, guiding the most appropriate management for patients. A likely ADIPOQ gene causing neonatal diabetes has been identified, expression studies are being going. This will enable genetic counselling, correcting the diagnosis of other family member & explain other associated features; predict the clinical course of the disease.