Full Description
Over recent years, impressive advances in genetic/epigenetic technology have greatly improved the understanding of the pathogenesis of pediatric endocrine diseases due to hormone resistance and hypersensitivity. This book presents reviews of thyroid hormone and thyroid hormone receptor resistance, and genetics and epigenetics of parathyroid hormone resistance. Abnormalities of the pituitary-gonadal axis affecting puberty as well as androgen receptor are covered. Novel insights into the diseases affecting ACTH, glucocorticoid and aldosterone receptors are discussed. Further chapters address new aspects of the physiology of the GH and IGF-1 axis as well as the diseases related to GH-IGF-1 receptor and post-receptor signaling defects. A key chapter on metabolic insights into insulin resistance is also included. Covering clinical and genetic aspects of hormone resistance and hypersensitivity, this book will be a useful tool in the hands of scientists, physicians and other healthcare professionals who wish to be up to date with novel research findings in this area.
Contents
Preface: Maghnie, M.; Loche, S.; Cappa, M.; Ghizzoni, L.; Lorini, R.; Thyroid Hormone Transporters and Resistance: Visser, T.J.; Genetics and Epigenetics of Parathyroid Hormone Resistance: Bastepe, M.; Gonadotropin Resistance: Latronico, A.C.; Arnhold, I.J.P.; Clinical and Molecular Aspects of Androgen Insensitivity: Hiort, O.; Exploring the Molecular Mechanisms of Glucocorticoid Receptor Action from Sensitivity to Resistance: Ramamoorthy, S.; Cidlowski, J.A.; ACTH Resistance: Genes and Mechanisms: Meimaridou, E.; Hughes, C.R.; Kowalczyk, J.; Chan, L.F.; Clark, A.J.L.; Metherell, L.A.; Primary Generalized Familial and Sporadic Glucocorticoid Resistance (Chrousos Syndrome) and Hypersensitivity: Charmandari, E.; Kino, T.; Chrousos, G.P.; Pseudohypoaldosteronism: Riepe, F.G.; New Aspects of the Physiology of the GH-IGF-1 Axis: Vottero, A.; Guzzetti, C.; Loche, S.; Molecular and Clinical Aspects of GHRH Receptor Mutations: Corazzini, V.; Salvatori, R.; Current Issues on Molecular Diagnosis of GH Signaling Defects: Feigerlova, E.; Hwa, V.; Derr, M.A.; Rosenfeld, R.G.; Molecular IGF-1 and IGF-1 Receptor Defects: From Genetics to Clinical Management: Walenkamp, M.J.E.; Losekoot, M.; Wit, J.M.; Phenotypes, Investigation and Treatment of Primary IGF-1 Deficiency: Savage, M.O.; Human Congenital Perilipin Deficiency and Insulin Resistance: Kozusko, K.; Patel, S.; Savage, D.B.; Author Index; Subject Index.
