Pediatric Adrenal Diseases: Workshop, Turin, May 2010
Written by experts and specialized investigators, this book presents a detailed overview of the recent progress in our understanding of the adrenal cortex and its pivotal roles in homeostasis. Genes, molecules and cell compartments directly or indirectly involved in the complex steroidogenesis pathway as well as the resulting end-hormones glucocorticoids, mineralocorticoids and androgens are analyzed. Furthermore, the defects of the genes responsible both for common and rare adrenal disorders are presented. The interactions of the adrenal cortices with the adrenal medulla and their importance in the integration of adrenocortical and adrenomedullary function are discussed. The complex molecular pathophysiology of congenital adrenal hyperplasia is presented; long-term effects of the disorder and the still controversial antenatal therapy are examined. Finally, expert review chapters discuss autoimmune Addison disease and the adrenoleukodystrophy/adrenomyeloneuropathy syndrome. Presenting novel research findings in adrenal gland physiology and pathophysiology, this book is a useful tool not only for pediatric endocrinologists, but also for clinicians and researchers studying human development, organogenesis, mitochondrial biology, nuclear receptors, stress biology and pharmacology.
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Table of Contents
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1 - 19: Role of Mitochondria in SteroidogenesisByWalter L. MillerWalter L. MillerDepartment of Pediatrics, University of California, San Francisco, Calif., USASearch for other works by this author on:
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20 - 27: The Physiology and Biochemistry of AdrenarcheByRichard J. AuchusRichard J. AuchusDivision of Endocrinology and Metabolism, Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, Tex., USASearch for other works by this author on:
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28 - 37: Update on the Corticomedullary Interaction in the Adrenal GlandByMatthias Haase;Matthias HaaseaDepartment of Endocrinology, Diabetes and Rheumatology, University Hospital Duesseldorf, Duesseldorf, andSearch for other works by this author on:Holger S. Willenberg;Holger S. WillenbergaDepartment of Endocrinology, Diabetes and Rheumatology, University Hospital Duesseldorf, Duesseldorf, andSearch for other works by this author on:Stefan R. BornsteinStefan R. BornsteinbDepartment of Medicine III, Carl Gustav Carus Medical School, University of Technology Dresden, Dresden, GermanySearch for other works by this author on:
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38 - 46: Role of DAX-1 (NR0B1) and Steroidogenic Factor-1 (NR5A1) in Human Adrenal FunctionByRanna El-Khairi;Ranna El-KhairiDevelopmental Endocrinology Research Group, Clinical and Molecular Genetics Unit, UCL Institute of Child Health, University College London, London, UKSearch for other works by this author on:Alejandro Martinez-Aguayo;Alejandro Martinez-AguayoDevelopmental Endocrinology Research Group, Clinical and Molecular Genetics Unit, UCL Institute of Child Health, University College London, London, UKSearch for other works by this author on:Bruno Ferraz-de-Souza;Bruno Ferraz-de-SouzaDevelopmental Endocrinology Research Group, Clinical and Molecular Genetics Unit, UCL Institute of Child Health, University College London, London, UKSearch for other works by this author on:Lin Lin;Lin LinDevelopmental Endocrinology Research Group, Clinical and Molecular Genetics Unit, UCL Institute of Child Health, University College London, London, UKSearch for other works by this author on:John C. AchermannJohn C. AchermannDevelopmental Endocrinology Research Group, Clinical and Molecular Genetics Unit, UCL Institute of Child Health, University College London, London, UKSearch for other works by this author on:
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47 - 53: Functional and Physiological Consequences of StAR Deficiency: Role in Lipoid Congenital Adrenal HyperplasiaBySteven R. King;Steven R. KingaDepartment of Cell Biology and Biochemistry, Texas Tech University Health Sciences Center, Lubbock, Tex., andSearch for other works by this author on:Amrit Bhangoo;Amrit BhangoobPediatric Endocrinology Division of Infants and Children’s Hospital of Brooklyn at Maimonides, Brooklyn, N.Y., USASearch for other works by this author on:Douglas M. StoccoDouglas M. StoccoaDepartment of Cell Biology and Biochemistry, Texas Tech University Health Sciences Center, Lubbock, Tex., andSearch for other works by this author on:
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54 - 62: P450 Side-Chain Cleavage Deficiency – A Rare Cause of Congenital Adrenal HyperplasiaByBerthold Hauffa;Berthold HauffaaDivision of Pediatric Endocrinology and Diabetes, Department of Pediatrics, University of Lübeck, Lübeck, andSearch for other works by this author on:Olaf HiortOlaf HiortbDivision of Pediatric Endocrinology and Diabetes, Department of Pediatrics, University of Duisburg- Essen, Duisburg-Essen, GermanySearch for other works by this author on:
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63 - 79: Clinical and Biochemical Consequences of P450 Oxidoreductase DeficiencyByChrista E. Flück;Christa E. FlückDepartment of Pediatrics, Division of Pediatric Endocrinology and Diabetology and Department of Clinical Research, University of Bern, Bern, SwitzerlandSearch for other works by this author on:Amit V. PandeyAmit V. PandeyDepartment of Pediatrics, Division of Pediatric Endocrinology and Diabetology and Department of Clinical Research, University of Bern, Bern, SwitzerlandSearch for other works by this author on:
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80 - 87: Molecular Genetics of 21- Hydroxylase DeficiencyByAnna WedellAnna WedellDepartment of Molecular Medicine and Surgery, Karolinska Institutet, Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, SwedenSearch for other works by this author on:
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88 - 95: Brain Development and Cognitive, Psychosocial, and Psychiatric Functioning in Classical 21- Hydroxylase DeficiencyByHeino F.L Meyer-BahlburgHeino F.L Meyer-BahlburgNYS Psychiatric Institute/Department of Psychiatry, Columbia University, New York, N.Y., USASearch for other works by this author on:
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96 - 105: Long-Term Outcome of Prenatal Dexamethasone Treatment of 21-Hydroxylase DeficiencyBySvetlana Lajic;Svetlana LajicDepartment of Molecular Medicine and Surgery, Karolinska University Hospital/Karolinska Institutet, Stockholm, SwedenSearch for other works by this author on:Anna Nordenström;Anna NordenströmDepartment of Molecular Medicine and Surgery, Karolinska University Hospital/Karolinska Institutet, Stockholm, SwedenSearch for other works by this author on:Tatja HirvikoskiTatja HirvikoskiDepartment of Molecular Medicine and Surgery, Karolinska University Hospital/Karolinska Institutet, Stockholm, SwedenSearch for other works by this author on:
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106 - 115: Role of Genetic Variation in Regulation of Aldosterone BiosynthesisBySamantha Alvarez-Madrazo;Samantha Alvarez-MadrazoaBHF Glasgow Cardiovascular Research Centre, University of Glasgow, Glasgow, andSearch for other works by this author on:John M. Connell;John M. ConnellbSchool of Medicine, University of Dundee, Dundee, UKSearch for other works by this author on:E.Marie FreelE.Marie FreelaBHF Glasgow Cardiovascular Research Centre, University of Glasgow, Glasgow, andSearch for other works by this author on:
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116 - 126: Circadian CLOCK-Mediated Regulation of Target-Tissue Sensitivity to Glucocorticoids: Implications for Cardiometabolic DiseasesByTomoshige Kino;Tomoshige KinoaUnit 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., USA, andSearch for other works by this author on:George P. ChrousosGeorge P. Chrousosb1st Department of Pediatrics, Athens University Medical School, Athens, GreeceSearch for other works by this author on:
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127 - 136: Glucocorticoid ResistanceByE.F.C. van Rossum;E.F.C. van RossumErasmus MC, Rotterdam, The NetherlandsSearch for other works by this author on:E.L.T. van den AkkerE.L.T. van den AkkerErasmus MC, Rotterdam, The NetherlandsSearch for other works by this author on:
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137 - 148: Mineralocorticoid Receptor Gene Variants as Determinants of HPA Axis Regulation and BehaviorByRoel H. DeRijk;Roel H. DeRijkaDepartment of Medical Pharmacology, Leiden Amsterdam Center for Drug Research, Leiden University, andSearch for other works by this author on:E. Ron de Kloet;E. Ron de KloetaDepartment of Medical Pharmacology, Leiden Amsterdam Center for Drug Research, Leiden University, andSearch for other works by this author on:Frans G. Zitman;Frans G. ZitmanbDepartment of Psychiatry, Leiden University Medical Center, Leiden, The NetherlandsSearch for other works by this author on:Nienke van LeeuwenNienke van LeeuwenaDepartment of Medical Pharmacology, Leiden Amsterdam Center for Drug Research, Leiden University, andSearch for other works by this author on:
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149 - 160: AdrenoleukodystrophyByMarco Cappa;Marco CappaaDipartimento Pediatrico Universitario Ospedaliero, Unità Operativa Complessa di Endocrinologia e Diabetologia,Search for other works by this author on:Carla Bizzarri;Carla BizzarriaDipartimento Pediatrico Universitario Ospedaliero, Unità Operativa Complessa di Endocrinologia e Diabetologia,Search for other works by this author on:Catello Vollono;Catello VollonobDipartimento di Neuroscienze, Unità Operativa Complessa di Neurologia, Ospedale Bambino Gesù, Roma;Search for other works by this author on:Anna Petroni;Anna PetronicDipartimento di Scienze Farmacologiche, Università di Milano, Milano, eSearch for other works by this author on:Sebastiano BanniSebastiano BannidDipartimento di Biologia Sperimentale, Università di Cagliari, Cagliari, ItalySearch for other works by this author on:
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161 - 172: Autoimmune Addison’s DiseaseByCorrado Betterle;Corrado BetterleClinical Immunology, Endocrine Unit, Department of Medical and Surgical Sciences, University of Padova, Padova, ItalySearch for other works by this author on:Luca MorlinLuca MorlinClinical Immunology, Endocrine Unit, Department of Medical and Surgical Sciences, University of Padova, Padova, ItalySearch for other works by this author on:
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173 - 180: Optimal Glucocorticoid TherapyByMiguel Debono;Miguel DebonoAcademic Unit of Diabetes, Endocrinology and Metabolism, Department of Human Metabolism, University of Sheffield, Sheffield, UKSearch for other works by this author on:Richard J. RossRichard J. RossAcademic Unit of Diabetes, Endocrinology and Metabolism, Department of Human Metabolism, University of Sheffield, Sheffield, UKSearch for other works by this author on:
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181 - 186: Modulation of Glucocorticoid Metabolism by the GH-IGF-I AxisBySebastian J.C.M.M. Neggers;Sebastian J.C.M.M. NeggersDepartment of Internal Medicine, Erasmus University MC, Rotterdam, The NetherlandsSearch for other works by this author on:Aart J. van der LelyAart J. van der LelyDepartment of Internal Medicine, Erasmus University MC, Rotterdam, The NetherlandsSearch for other works by this author on:
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187 - 193: Effects of Glucocorticoids on the Growth PlateByJulian C. Lui;Julian C. LuiDevelopmental Endocrinology Branch, Program in Developmental Endocrinology and Genetics, 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:Jeffrey BaronJeffrey BaronDevelopmental Endocrinology Branch, Program in Developmental Endocrinology and Genetics, 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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194 - 201: Growth Hormone Treatment in Children on Chronic Glucorticoid TherapyByMartin O. Savage;Martin O. SavageaDepartment of Endocrinology, William Harvey Research Institute, Barts and the Royal London School of Medicine and Dentistry, London, UK;Search for other works by this author on:Dominique Simon;Dominique SimonbHôpital Robert Debré, andSearch for other works by this author on:Paul C. CzernichowPaul C. CzernichowcHôpital Necker, Paris, FranceSearch for other works by this author on:
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202 - 211: Ancient History of Congenital Adrenal HyperplasiaByMaria I. NewMaria I. NewMount Sinai School of Medicine, New York, N.Y., USASearch for other works by this author on: