Table of Content
Table of Contents Preface xiii Introduction xv PART I: Monogenic Diabetes: Genetic Defects of β-cell Development and Function Chapter 1: Maturity-Onset Diabetes of the Young (MODY) and Neonatal Diabetes — 3 R. Naylor, S.A. Greeley, D. Carmody, J.L. Hwang, M. Sanyoura, L.R. Letourneau, G.I. Bell, and L. Philipson
Part I Case Studies Introduction — 37 Case 1: KCNJ11 – DEND: Neonatal Diabetes — 41 L. Letourneau, M. Sanyoura, L. Dickens, S.A. Greeley, R. Naylor, G.I. Bell, and L. Philipson
Case 2: ABCC8 Neonatal Diabetes — 44 L. Letourneau, M. Sanyoura, L. Dickens, S.A. Greeley, R. Naylor, G.I. Bell, and L. Philipson
Case 3: INS – Insulin Gene Mutation in Neonatal Diabetes — 47 L. Letourneau, M. Sanyoura, L. Dickens, S.A. Greeley, R. Naylor, GI. Bell, and L. Philipson
Case 4: STAT3 and Neonatal Diabetes — 51 D.W. Hansen, J.C. Sanchez, and T.S. Hannon
Case 5: GATA6 – Heart and Pancreas — 55 T. Triolo and K. Simmons
Case 6: KCNJ11 R201C – Neonatal Diabetes — 61 L.M. Nally and D.M. Wilson
Case 7: PDX1 – Pancreatic Agenesis — 67 M. Sanyoura, L. Letourneau, L. Dickens, S.A. Greeley, R. Naylor, G.I. Bell, and L. Philipson
Case 8: Neonatal Diabetes and Congenital Hypothyroidism: GLIS3 — 70 M. Sanyoura, L. Letourneau, L. Dickens, S.A. Greeley, R. Naylor, G.I. Bell, and L. Philipson
Case 9: EIF2AK3: Wolcott-Rallison Syndrome — 73 M. Sanyoura, L. Letourneau, L. Dickens, S.A. Greeley, R. Naylor, G.I. Bell, and L. Philipson
Case 10: Transient Neonatal Diabetes — 76 E.O. Buschur and K. Dungan
Case 11: GCK-MODY — 81 L. Dickens, M. Sanyoura, L. Letourneau, S.A. Greeley, R. Naylor, G.I. Bell, and L. Philipson
Case 12: HNF1A – MODY — 84 L. Dickens, M. Sanyoura, L. Letourneau, S.A. Greeley, R. Naylor, G.I. Bell, and L. Philipson
Case 13: HNF4A – MODY — 87 L. Dickens, M. Sanyoura, L. Letourneau, S.A. Greeley, R. Naylor, G.I. Bell, and L. Philipson
Case 14: MODY as a Possible Diagnosis — 90 I. Jamil and J.L. Gilden
Case 15: Could This Be MODY vs. Type 2? — 95 B.Z. Osmani, J.L. Gilden, A. Moid, and C. Harris
Case 16: Misclassification of MODY 3 as Type 1 — 100 L. Song, J.N. Mc Nulty, and I. Lingvay
Case 17: Wolfram Syndrome WFS1 — 105 J. Sarhis-Avigdor and E. Cengi
Case 18: Mitochondrial Diabetes — 109 C. Sullivan and S. Alexanian
Case 19: Mitochondrial Diabetes: m.3243A>G Mutation — 115 B.P. Galm, S. Sirrs, and R.O. Yeung
Case 20: m DNA3243A>G 120 A.L. Frederilsen and H. Beck-Nielsen
Case 21: Maternally Inherited Diabetes and Deafness: 23-Year Follow-Up — 125 I. Ahmad and I.B. Hirsch
Case 22: Glycogen Storage Type 1A Presenting with Diabetes Mellitus Type 2 — 130 D. Sistla, M. Korytkowski, S. Mon
PART II: Insulin Resistance, Genetic Defects in Insulin Action, and Diseases of Exocrine Pancreas Chapter 2: Insulin Resistance: Molecular Biology and Pathophysiology — 135 C.L. Wang and B. Draznin
Chapter 3: The Lipodystrophy Syndromes: Clinical Features and Treatments — 155 M. Mattingly, A. Valencia, E. Cochran, R.J. Brown, and P. Gorden
Chapter 4: Diabetes in Diseases of Exocrine Pancreas — 181 J. Abramowitz, U. Gunasekaran, X.F. Samaropoulos, A. Tumyan, and I. Lingvay
Part II Case Studies Introduction — 215 Case 23: Type A Insulin Resistance — 218 A. Stears and R.K. Semple
Case 24: Donohue Syndrome (Leprechaunism) — 225 C. Peters and R.K. Semple
Case 25: Rabson-Mendelhall Syndrome — 232 R. Williams and R.K. Semple
Case 26: Familial Partial Lipodystrophy II (Dunninan’s Syndrome) — 239 P.K. Cabandugama, S.A. Brietzke, M.J. Gardner, and J. Sowers
Case 27: Familial Partial Lipodystrophy — 243 K.E. Kreider and M. Feinglos
Case 28: Severe Insulin Resistance and Lipodystrophy — 248 K. Mekala and J. Aloi
Case 29: Lipodystrophy Due to PPAR-γ Gene Mutation — 253 A. Hodes, R. Brown, E. Cochran, M. Zilbermint
Case 30: Congenital Generalized Lipodystrophy — 259 H. Beck-Nielsen
Case 31: Pancreatogenic Diabetes Mellitus –263 N. Zherdeva and B. Mankovsky
Case 32: A Case of Pancreatogenic Diabetes due to Alcohol Abuse –267 B.Z. Osmani, J.L. Gilden, and A. Moid
Case 33: Post-Pancreatectomy Diabetes — 273 E.D. Buras, R. Cianchandani, and J. Wyckoff
Case 34: Diabetes and Hemochromatosis — 277 D. Maggi, A. Aleo, L. Briatore, C. Mazzucchelli, L. Fontana, and R. Cordera
Case 35: Bronze Diabetes — 281 E. Meyerhoff
Case 36: Type 2 Diabetes in Liver Cirrhosis and Hepatocellular Carcinoma — 285 S. Ravi, A. Moid, J.L. Gilden, and D. Karam
Case 37: Poor Glycemic Control in Insulin-Treated Diabetes Due to Anti-Insulin Antibodies — 290 D. S. Church and R.K. Semple
Case 38: Cystic Fibrosis-Related Diabetes — 296 R. Iyengar, R.Y. Gianchandani, and J. Wyckoff
Case 39: Pembrolizumab and Diabetic Ketoacidosis — 300 F. Cottini and K. Dungan
Case 40: Glycemic Control in Patient with Multiple Chronic Complications — 305 A. Iqbal, J.L. Gilden, B.G. Theckadeth, S. Rapaka, and D. Dai
Case 41: Diabetes and Exposure to Agent Orange — 309 B.Z. Osmani, J.L. Gilden, C. Harris
Case 42: Pasireotride-Induced Hyperglycemia — 313 K. Brau and A. Drincic
Case 43: Hemoglobin A1C vs. Fructosamine — 318 A. Iqbal, J.L. Gilden, B.G. Theckadeth, S. Rapaka, and D. Dai
Part III: Endocrinopathies, Immune-Mediated Diabetes, Diabetes of Unknown Cause, and Other Genetic Syndromes Sometimes Associated with Diabetes Chapter 5: Diabetes Secondary to Endocrinopathies — 325 J. M. Silverstein, K. Sterl, J. L Cartier, P. Cruz-Bravo, C. A. Davis, S. Sadiq, and J.B Mc Gill
Chapter 6. Immune-Mediated Diabetes — 357 M.F. Salam, J.W. Hughes, and J.B. Mc Gill
Chapter 7. Diabetes of Unknown Cause — 383 Y. Azhar, C.A. Baker, and N. Rasouli
Chapter 8. Genetic Syndromes Associated with Diabetes — 395 A.C.H Wood, D. Abreu, A.L. Clark, M.A. Malbas, J.E. Sprague, and J.B. Mc Gill
Part III Case Studies Introduction — 423 Case 44: Acromegaly and Diabetic Ketoacidosis — 426 P. Akkireddy and A. Drincic
Case 45: Cushing’s Syndrome and Diabetes — 431 K. Peicher and L. Meneghini