Speakers’ Abstracts

16 Monogenic diabetes; an experience from Sudan

Abstract

Background Monogenic diabetes is a rare form of heterogenous disorders resulting from mutations or defects in a single gene or chromosomal locus with more than 40 subtypes identified to date. Clinical characterization includes early-onset diabetes such as neonatal diabetes, maturity-onset diabetes of the young (MODY), diabetes associated with extra-pancreatic features, and monogenic insulin resistance (IR) syndromes. It may be inherited as a dominant, recessive, or non-Mendelian trait or may present as a spontaneous case due to a de novo mutation. Advances in molecular genetics have led to the identification of genes associated with many clinically identified subgroups of monogenic diabetes. Early identification of patients with monogenic diabetes led to improvement in their clinical care, helped to predict the clinical sequalae and guided the most effective management plan and family counselling.

SUDAN is a country with wide range of ethnic groups and more than 200 tribes with high rate of consanguinity. There are more than 70 cases of monogenic DM reported from Sudan of which NDM are the commonest. The total number of Sudanese patients with monogenic DM is an under estimate of the true value supported by the high rates of consanguineous marriage and death of undiagnosed siblings. Many factors have contributed to this including loss of follow up, deficient medical records, lack of awareness among physicians and inadequate referral system at our settings. In this presentation, we will characterize our patients with monogenic DM form Sudan and reflect our unique clinical diversity aiming to contribute to the scarcity of literature regarding this condition.

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