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  • Book
    Diva D. De León-Crutchlow, Charles A. Stanley, editors.
    Intro; Series Editor Foreword; Preface; Contents; Contributors; Chapter 1: Approach to the Diagnosis of Neonates and Infants with Persistent Hypoglycemia; Introduction; Diagnosis of HI: Fasting Test and "Critical Samples"; Diagnosis of Hyperinsulinism Using the Closely Monitored Fasting Test; Diagnosis of Hyperinsulinism Based on a Random "Critical Sample"; Other Tests Used to Define Specific Phenotypes of Hyperinsulinism; Oral Protein Tolerance Test (oPTT); Oral Glucose Tolerance Test (oGTT); Acute Insulin Response (AIR) Tests; Genetic Testing in Neonates and Children with Hyperinsulinism Important Mimickers to Exclude in the Diagnosis of HyperinsulinismMultiple Pituitary Hormone Deficiencies in Neonates; AKT2; Autoimmune Hypoglycemia; Surreptitious Insulin Administration; Insulin Secretagogues; Insulinoma; Signs and Symptoms of Hyperinsulinism in Neonates and Children (See Table 1.5); Neonates; Infants and Children; Fasting Test to Evaluate Efficacy of Treatment ("Safety Fast" and "Cure Fast"); Conclusion; References; Chapter 2: Diazoxide-Responsive Forms of Congenital Hyperinsulinism; Introduction; Definition of Diazoxide Responsiveness Perinatal Stress-Induced HyperinsulinismGlutamate Dehydrogenase Hyperinsulinism (Hyperinsulinism/Hyperammonemia Syndrome); HNF4A and HNF1A Hyperinsulinism; Rarer Forms of Diazoxide-Responsive Hyperinsulinism; Short-Chain L-3-Hydroxyacyl-CoA Dehydrogenase Hyperinsulinism; Uncoupling Protein 2 Hyperinsulinism; Monocarboxylate Transport Protein 1 Hyperinsulinism; Additional Rare Forms of Diazoxide-Responsive Hyperinsulinism; References; Chapter 3: Diazoxide-Unresponsive Forms of Congenital Hyperinsulinism; Introduction; KATP Hyperinsulinism; Pathophysiology Diazoxide-Unresponsive HI due to Recessive KATP Channel MutationsDiazoxide-Unresponsive HI due to Dominant KATP Channel Mutations; Clinical Features and Management; Focal KATP Hyperinsulinism; Biallelic Recessive Diazoxide-Unresponsive KATPHI; Dominant Diazoxide-Unresponsive KATPHI; Dominant Diazoxide-Responsive KATPHI; Complications; Glucokinase Hyperinsulinism; Pathophysiology; Activating GCK Mutations; Clinical Features and Management; Dietary Treatment; Medical Treatment; Surgery; Diazoxide-Unresponsive HI with Unknown Genetics; Conclusions; References Chapter 4: Syndromic Causes of Congenital HyperinsulinismBeckwith-Wiedemann Syndrome; Kabuki Syndrome; Sotos Syndrome; Turner Syndrome; References; Chapter 5: Molecular Diagnosis of Congenital Hyperinsulinism; Genetic Heterogeneity of Congenital Hyperinsulinism (HI); Strategies for Genetic Screening; Interpretation of Genetic Test Results; Cascade Family Testing; Negative Genetic Test Results; Factors to Consider when Choosing Where to Send Samples for Genetic Testing; Conclusions; References; Chapter 6: Medical Management of Hyperinsulinism; Introduction
    Digital Access  Springer 2019