Congenital Endocrinopathies 1st Edition by Renata Lorini, Mohamad Maghnie, Giuseppe D’Annunzio, Sandro Loche, Martin Savage ISBN 3805583473 978-3805583473

Congenital Endocrinopathies 1st Edition by Renata Lorini, Mohamad Maghnie, Giuseppe D’Annunzio, Sandro Loche, Martin O. Savage  – Ebook PDF Instant Download/Delivery: 3805583473, 978-3805583473
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Product details: 

ISBN 10: 3805583473 

ISBN 13: 978-3805583473

Author: Renata Lorini, Mohamad Maghnie, Giuseppe D’Annunzio, Sandro Loche, Martin O. Savage 

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.

Table of contents: 

1 Genomic Approaches in Genetic Research for Endocrine Diseases
2 Genetic Defects of the Growth-Hormone-IGF Axis Associated with Growth Hormone Insensitivity
3 Late Effects of Disturbed IGF Signaling in Congenital Diseases: Intrauterine and Postnatal Growth Retardation
4 Growth Hormone Receptor Polymorphisms: Controversies and Outcome of Growth Hormone Treatment
5 Genetic Disorders Involving Adrenal Development
6 Early Management and Gender Assignment in Disorders of Sexual Differentiation

7 Prenatal and Early Postnatal Treatment of Congenital Adrenal Hyperplasia
8 Neonatal Diabetes: The Role of KCNJ11 (Kir6.2)
9 Diagnosis of Neonatal and Infancy-Onset Diabetes
10 Management of Neonatal and Infancy-Onset Diabetes Mellitus
11 Insights in Congenital Hyperinsulinism
12 A Clinical Approach to Severe Insulin Resistance
13 Inherited Endocrine Diseases Involving G Proteins and G Protein-Coupled Receptors
14 Stem Cells: From Animal Research to Clinical Applications

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Renata Lorini,Mohamad Maghnie,Giuseppe D’Annunzio,Sandro Loche, Martin Savage,Congenital Endocrinopathies