In recent years, substantial progress in gene technology has greatly improved the understanding of the pathogenesis of paediatric endocrine diseases as well as opened new diagnostic and therapeutic possibilities. This volume, based on a symposium held in Genoa in January 2007, reviews normal and abnormal hypothalamic-pituitary development affecting growth hormone (GH) secretion and defects of the GH-IGF-I axis influencing GH and IGF-I action. Abnormalities of the pituitary-gonadal axis affecting normal puberty are discussed together with defects of steroidogenesis involving both adrenal and gonadal development. The effect of glucocorticoid hormone programming in early life and defects of G proteins and their receptors are also described. Key chapters cover neonatal diabetes, congenital insulin resistance syndromes and the pathogenesis and management of persisting hyperinsulism of infancy. Finally, the application of stem cell research from animal studies to human diagnosis and therapy is reviewed. Providing information that is of topical value to physicians, nonclinical scientists and students from many disciplines, this book stimulates thought and future research opportunities with cutting-edge scientific results in the complex field of congenital endocrinopathies.

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Yes, you can access Congenital Endocrinopathies by Lorini, Maghnie, D'Annunzio, Loche, Savage in PDF and/or ePUB format, as well as other popular books in Medicine & Pediatric Medicine. We have over one million books available in our catalogue for you to explore.

Information

Publisher

S. Karger

Year

2007

ISBN

9783805583480

Edition

Topic

Medicine

Subtopic

Pediatric Medicine

Cover
Contents
Foreword
Preface
Genomic Approaches in Genetic Research for Endocrine Diseases
Genetic Defects of the Growth-Hormone-IGF Axis Associated with Growth Hormone Insensitivity
Late Effects of Disturbed IGF Signaling in Congenital Diseases: Intrauterine and Postnatal Growth Retardation
Growth Hormone Receptor Polymorphisms: Controversies and Outcome of Growth Hormone Treatment
Genetic Disorders Involving Adrenal Development
Early Management and Gender Assignment in Disorders of Sexual Differentiation
Prenatal and Early Postnatal Treatment of Congenital Adrenal Hyperplasia
Neonatal Diabetes: The Role of KCNJ11 (Kir6.2)
Diagnosis of Neonatal and Infancy-Onset Diabetes
Management of Neonatal and Infancy- Onset Diabetes Mellitus
Insights in Congenital Hyperinsulinism
A Clinical Approach to Severe Insulin Resistance
Inherited Endocrine Diseases Involving G Proteins and G Protein-Coupled Receptors
Stem Cells: From Animal Research to Clinical Applications
Author Index
Subject Index