Hormone Resistance and Hypersensitivity: From Genetics to Clinical Management
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.
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Table of Contents
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1 - 10: Thyroid Hormone Transporters and ResistanceByTheo J. VisserTheo J. VisserDepartment of Internal Medicine, Erasmus University Medical Center, Rotterdam, The NetherlandsSearch for other works by this author on:
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11 - 24: Genetics and Epigenetics of Parathyroid Hormone ResistanceByMurat BastepeMurat BastepeEndocrine Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, Mass., USASearch for other works by this author on:
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25 - 32: Gonadotropin ResistanceByAna Claudia Latronico;Ana Claudia LatronicoUnidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM/42, Hospital das Clínicas, Disciplina de Endocrinologia e Metabologia, Faculdade de Medicina da Universidade de São Paulo, São Paulo, BrasilSearch for other works by this author on:Ivo Jorge Prado ArnholdIvo Jorge Prado ArnholdUnidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM/42, Hospital das Clínicas, Disciplina de Endocrinologia e Metabologia, Faculdade de Medicina da Universidade de São Paulo, São Paulo, BrasilSearch for other works by this author on:
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33 - 40: Clinical and Molecular Aspects of Androgen InsensitivityByOlaf HiortOlaf HiortDivision of Experimental Pediatric Endocrinology and Diabetes, Department of Pediatrics and Adolescent Medicine, Universität zu Lübeck, Lübeck, GermanySearch for other works by this author on:
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41 - 56: Exploring the Molecular Mechanisms of Glucocorticoid Receptor Action from Sensitivity to ResistanceBySivapriya Ramamoorthy;Sivapriya RamamoorthyLaboratory of Signal Transduction, National Institute of Environmental Health Sciences, National Institutes of Health, Department of Health and Human Services, Research Triangle Park, N.C., USASearch for other works by this author on:John A. CidlowskiJohn A. CidlowskiLaboratory of Signal Transduction, National Institute of Environmental Health Sciences, National Institutes of Health, Department of Health and Human Services, Research Triangle Park, N.C., USASearch for other works by this author on:
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57 - 66: ACTH Resistance: Genes and MechanismsByE. Meimaridou;E. MeimaridouCentre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UKSearch for other works by this author on:C.R. Hughes;C.R. HughesCentre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UKSearch for other works by this author on:J. Kowalczyk;J. KowalczykCentre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UKSearch for other works by this author on:L.F. Chan;L.F. ChanCentre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UKSearch for other works by this author on:A.J.L. Clark;A.J.L. ClarkCentre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UKSearch for other works by this author on:L.A. MetherellL.A. MetherellCentre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UKSearch for other works by this author on:
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67 - 85: Primary Generalized Familial and Sporadic Glucocorticoid Resistance (Chrousos Syndrome) and HypersensitivityByEvangelia Charmandari;Evangelia CharmandariaDivision of Endocrinology, Metabolism and Diabetes, First Department of Pediatrics, University of Athens Medical School, Aghia Sophia Children’s Hospital,bDivision of Endocrinology and Metabolism, Clinical Research Center, Biomedical Research Foundation of the Academy of Athens, Athens, Greece;cUnit on Molecular Hormone Action, Program in Reproductive and Adult Endocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Md., USASearch for other works by this author on:Tomoshige Kino;Tomoshige KinocUnit on Molecular Hormone Action, Program in Reproductive and Adult Endocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Md., USASearch for other works by this author on:George P. ChrousosGeorge P. ChrousosaDivision of Endocrinology, Metabolism and Diabetes, First Department of Pediatrics, University of Athens Medical School, Aghia Sophia Children’s Hospital,bDivision of Endocrinology and Metabolism, Clinical Research Center, Biomedical Research Foundation of the Academy of Athens, Athens, Greece;cUnit on Molecular Hormone Action, Program in Reproductive and Adult Endocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Md., USASearch for other works by this author on:
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86 - 95: PseudohypoaldosteronismByFelix G. RiepeFelix G. RiepeDivision of Pediatric Endocrinology, Department of Pediatrics, University Hospital Schleswig-Holstein, Kiel, GermanySearch for other works by this author on:
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96 - 105: New Aspects of the Physiology of the GH-IGF-1 AxisByAlessandra Vottero;Alessandra VotteroaClinica Pediatrica, Università di Parma, Parma, eSearch for other works by this author on:Chiara Guzzetti;Chiara GuzzettibServizio di Endocrinologia Pediatrica, Ospedale Regionale per le Microcitemie, ASL Cagliari, Cagliari, ItaliaSearch for other works by this author on:Sandro LocheSandro LochebServizio di Endocrinologia Pediatrica, Ospedale Regionale per le Microcitemie, ASL Cagliari, Cagliari, ItaliaSearch for other works by this author on:
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106 - 117: Molecular and Clinical Aspects of GHRH Receptor MutationsByValentina Corazzini;Valentina CorazziniDivision of Endocrinology and Metabolism, School of Medicine, Johns Hopkins University, Baltimore, Md., USASearch for other works by this author on:Roberto SalvatoriRoberto SalvatoriDivision of Endocrinology and Metabolism, School of Medicine, Johns Hopkins University, Baltimore, Md., USASearch for other works by this author on:
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118 - 127: Current Issues on Molecular Diagnosis of GH Signaling DefectsByEva Feigerlova;Eva FeigerlovaDepartment of Pediatrics, Oregon Health and Science University, Portland, Oreg., USASearch for other works by this author on:Vivian Hwa;Vivian HwaDepartment of Pediatrics, Oregon Health and Science University, Portland, Oreg., USASearch for other works by this author on:Michael A. Derr;Michael A. DerrDepartment of Pediatrics, Oregon Health and Science University, Portland, Oreg., USASearch for other works by this author on:Ron G. RosenfeldRon G. RosenfeldDepartment of Pediatrics, Oregon Health and Science University, Portland, Oreg., USASearch for other works by this author on:
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128 - 137: Molecular IGF-1 and IGF-1 Receptor Defects: From Genetics to Clinical ManagementByM.J.E. Walenkamp;M.J.E. WalenkampaDepartment of Pediatrics, VU University Medical Center, Amsterdam,Search for other works by this author on:M. Losekoot;M. LosekootbLaboratory of Diagnostic Genome Analysis, Department of Clinical Genetics, andSearch for other works by this author on:J.M. WitJ.M. WitcDepartment of Pediatrics, Leiden University Medical Center, Leiden, The NetherlandsSearch for other works by this author on:
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138 - 149: Phenotypes, Investigation and Treatment of Primary IGF-1 DeficiencyByMartin O. SavageMartin O. SavageDepartment of Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, London, UKSearch for other works by this author on:
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150 - 155: Human Congenital Perilipin Deficiency and Insulin ResistanceByKristina Kozusko;Kristina KozuskoMetabolic Research Laboratories, Institute of Metabolic Science, University of Cambridge, Addenbrooke’s Hospital, Cambridge, UKSearch for other works by this author on:Satish Patel;Satish PatelMetabolic Research Laboratories, Institute of Metabolic Science, University of Cambridge, Addenbrooke’s Hospital, Cambridge, UKSearch for other works by this author on:David B. SavageDavid B. SavageMetabolic Research Laboratories, Institute of Metabolic Science, University of Cambridge, Addenbrooke’s Hospital, Cambridge, UKSearch for other works by this author on: