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Maturity Onset Diabetes in Youth (MODY)

Maturity Onset Diabetes in Youth (MODY). Angela Stancil Dietetic Intern 11/1/13. MODY Overview. Monogenic form of Diabetes Early onset (< 25 y/o) Mild fasting hyperglycemia Mild or no symptoms of diabetes Accounts for 1-5% of diabetes in youth. Genetics. Autosomal Dominant

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Maturity Onset Diabetes in Youth (MODY)

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  1. Maturity Onset Diabetes in Youth (MODY) Angela Stancil Dietetic Intern 11/1/13

  2. MODY Overview • Monogenic form of Diabetes • Early onset (< 25 y/o) • Mild fasting hyperglycemia • Mild or no symptoms of diabetes • Accounts for 1-5% of diabetes in youth

  3. Genetics • Autosomal Dominant • Multigenerational • Mutations identified on the genes of 6 different chromosomes

  4. MODY Classifications Table taken from Lal R, Loomba-Albrecht L A, Bremer A A. An unusual cause of hyperglycemia. J Postgrad Med 2011;57:343-6

  5. MODY 3 • Accounts for 60 - 65% of MODY cases • Hepatocyte nuclear factor-1-alpha (HNF-1α) gene • Progressive decrease in insulin secretion over time • Glycosuria • Normal TGs but elevated HDL

  6. MODY 2 • Accounts for 15 - 25% of MODY cases • 2-4% of GDM cases • Glucokinase (GCK) gene • Mild form of non-progressive hyperglycemia

  7. MODY 1 • Accounts for 3 - 5% of MODY cases • Hepatocyte nuclear factor 4 alpha (HNF-4α) • Progressive decrease in insulin secretion over time • Impaired glucagon secretion in response to arginine • Impaired apolipoprotein biosynthesis • No glycosuria

  8. Complications of MODY • MODY 1 or MODY 3 • Full spectrum of diabetes complications • MODY 2 • rarely have overt symptoms of diabetes or diabetes complications

  9. Dx of Type 1 DM may be incorrect when… Dx occurs < 6 months of age (<1%) Family hx of diabetes with parent affected (2-4%) Evidence of endogenous insulin production outside of the honeymoon phase (1-5%) Pancreatic islet antibodies absent (3 - 30%) Dx of Type 2 DM may be incorrect when… Absence of obesity/overweight (20%) Acanthosis nigricans absent (10%) From low prevalence ethnic background (0-45%) Normal C-peptide + absence of insulin resistance (0-20%) Distinguishing MODY from Type 1 and Type 2 Diabetes

  10. Assessing Insulin Secretion • Urine C-Peptide Creatinine Ratio (UCPCR) • Measures C-Peptide as a marker of insulin secretion • Normal C-Peptide range 0.5 – 2.0 ng/ml • Low C-Peptide = impaired insulin secretion • Normal C-Peptide = insulin resistance

  11. When to Suspect MODY • Young onset (<25 y/o) • Residual beta cell function + NIDDM > 3 years • OGTT > 80mg/dl, +/- normal fasting glucose • Strong family history DM • Glycosuria at low levels of BG • Absence of overweight/obesity • Inappropriate insulin levels for degree of hyperglycemia • Diabetes + pancreatic insufficiency • “Type 1” + negative blood testing for antibodies

  12. Genetic Testing • MODY Panel • Indicated for: • Mild fasting hyperglycemia stable over months to years • OGTT 2 hour increment > 80mg/dl • PMH of GDM that does not resolve • FH of mild DMII or GDM • Cost: $120 -$600

  13. Treatment • MODY 3 and MODY 1 • Initial treatment = diet • Sulfonylureas • Insulin • 30-40% of patients • MODY 2 • Diet

  14. Thank You for Listening!

  15. References • American Association of Diabetes Educators. The Art and Science of Diabetes Self-Management Education Desk Reference 2nd edition. Chicago, IL; Kinetic Publishing LLC; 2011 • American Diabetes Association. Diagnosis and classification of diabetes mellitus. Diabetes Care. 2012; (suppl):S67-S74 • The University of Chicago Medicine. MODY (Maturity Onset Diabetes of the Young). Kovler Diabetes Center webpage. Available at http://monogenicdiabetes.uchicago.edu/what-is-monogenic-diabetes/mody-maturity-onset-diabetes-of-the-young/. Accessed October 28, 2013. • National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health. Monogenic Forms of Diabetes: Neonatal Diabetes Mellitus and Maturity-onset Diabetes of the Young. Available at http://diabetes.niddk.nih.gov/dm/pubs/mody/#1. March 2007. Accessed October 28, 2013. • Seattle Children's Hospital. Maturity Onset Diabetes of the Young (MODY) Sequencing Panel. Genetics Lab webpage. Available at http://www.seattlechildrens.org/healthcare-professionals/access/diagnostic-services/genetics-lab/TestDetails.aspx?TestId=255. Accessed October 28, 2013. • Maturity Onset Diabetes of the Young Type 3. Online Mendelian Inheritance of Man webpage. Available at http://omim.org/entry/600496 . Accessed October 28, 2013. • Hattersly A, Bruining J, Shield J, Njolstad P. The diagnosis and management of monogenic diabetes in children. Diabetes Genes webpage. Available at http://www.diabetesgenes.org/content/making-diagnosis-mody. Accessed October 30, 2013. • U.S. National Library of Medicine and National Institutes of Health. C-Peptide. MedlinePlus webpage. Available at http://www.nlm.nih.gov/medlineplus/ency/article/003701.htm . Accessed October 30, 2013.

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