Meranda Nakhla MD Constantin Polychronakos MD

Department of Pediatrics, Division of Pediatric Endocrinology, McGill University Health Center, Montreal Children S Hospital, 2300 Tupper, Suite C-244, Montreal, Quebec H3H1P3, Canada

The latest version of the American Diabetes Association practice guidelines [1] distinguishes no fewer than 59 causes of diabetes mellitus. This array of etiologies can be dazzling even to the specialist but can be made manageable by putting it in statistical perspective and reducing it to the two basic physiologic disruptions responsible for hyperglycemia: insulin deficiency and insulin resistance. First, it is important to know that most (more than 95%) patients can be classified into either type 1 or type 2 diabetes. Second, the clinical management of the rare patient with unusual forms of diabetes does not require a profound understanding of the underlying disorder, just the ability to estimate the relative contributions of insulin resistance versus deficiency. A specific diagnosis is helpful in this regard. This is facilitated by the fact that many of these rare etiologies of diabetes are associated with specific (and often pre-existing) clinical syndromes or characteristic age of onset (ie, neonatal diabetes). In addition, molecular diagnosis is becoming available for an increasing number of these disorders. This article aims to help the practicing pediatrician make such a specific diagnosis and understand its implication in clinical case management.

Maturity-onset diabetes of the young

Maturity-onset diabetes of the young (MODY) is a clinically and genetically heterogeneous group of disorders with autosomal-dominant inheritance [2]. It

Dr. Nakhla is the recipient of an Eli Lilly pediatric endocrine fellowship. Dr. Polychronakos' research is supported by the Juvenile Diabetes Foundation, Genome Canada, and Genome Quebec.

* Corresponding author.

E-mail address: [email protected] (C. Polychronakos).

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