Sperling Pediatric Endocrinology

Sperling Pediatric Endocrinology

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5th Edition - July 22, 2020

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  • Author: Mark Sperling
  • Hardcover ISBN: 9780323625203
  • eBook ISBN: 9780323625210

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Description

An ideal resource for both pediatricians and endocrinologists, Sperling’s Pediatric Endocrinology, 5th Edition, brings you fully up to date with accelerating research; new discoveries in metabolic, biochemical and molecular mechanisms; and the resulting advances in today’s clinical care. The editorial team of world-renowned pediatric endocrinologists led by Dr. Mark Sperling, as well as expert contributing authors, cover comprehensive and current aspects of both basic science and clinical practice. Whether you’re preparing for certification or have extensive clinical experience, this detailed, authoritative reference helps you increase your knowledge and determine the best possible course for every patient.

Table of Contents

  • Cover image
  • Title page
  • Table of Contents
  • Copyright
  • Dedication
  • Foreword to the First Edition
  • Preface
  • Preface to the 5th edition
  • Acknowledgments
  • Contributors
  • Section I: Principles and Methods of Pediatric Endocrinology
  • 1: Overview and Principles of Pediatric Endocrinology
  • Abstract
  • Historical background
  • Impact of hormonal assays and molecular biology
  • Unique aspects of pediatric endocrinology
  • Evaluating endocrine disorders in infancy and childhood
  • Concluding remarks
  • 2: Molecular Endocrinology, Endocrine Genetics, and Precision Medicine
  • Abstract
  • Introduction
  • Basic molecular tools
  • Detection of mutations in genes
  • CRISPR-Cas9 system
  • Positional genetics in endocrinology
  • Chromosome analysis and molecular cytogenetics
  • Principles of interpretation of genetic tests in the diagnosis and management of pediatric endocrine diseases
  • Genomic medicine, genome sequencing, and applications in genetic testing
  • Genetics in clinical practice and next-generation sequencing applications
  • Precision medicine
  • Recombinant DNA technology and therapy of pediatric endocrine diseases
  • Concluding remarks
  • 3: Receptor Transduction Pathways Mediating Hormone Action
  • Abstract
  • Introduction
  • Basic principles of receptor action
  • G protein–coupled receptors
  • Class A receptors that transduce hormone action
  • Class B receptors that transduce hormone action
  • Class C receptors that transduce hormone action
  • G protein gene disorders
  • Cytokine receptors
  • Leptin receptors
  • Receptor tyrosine kinases
  • Insulin receptor tyrosine kinase family
  • The insulin receptor
  • The insulin-like growth factor-1 receptor
  • The fibroblast growth factor receptor family
  • Nuclear receptors
  • Subfamily 1 nuclear receptors: thyroid hormone, vitamin d3, and peroxisome proliferator–activated receptors
  • Subfamily 2 nuclear receptors: hepatocyte nuclear factor and retinoid x receptors
  • Subfamily 3 nuclear receptors: the steroid receptors and glucocorticoid, androgen, estrogen, and mineralocorticoid receptors
  • Subfamily 0 nuclear receptors: dax1
  • Summary
  • 4: Endocrinology Laboratory Testing
  • Abstract
  • Introduction
  • Collaboration among clinicians and laboratorians
  • Learning to speak (some of) the language of the laboratory
  • Laboratory statistics: the basics of evidence-based diagnosis
  • Analytical validation
  • Methodology
  • What can go wrong? errors, interference, and the like
  • Standardization/harmonization: clinically relevant and crucial
  • Reference intervals
  • Summary
  • Section II: Endocrine Disorders in the Neonate
  • 5: Fetal-Maternal Endocrinology and Parturition
  • Abstract
  • Overview
  • Genome-wide association studies
  • Rare variant analysis
  • Mendelian randomization and causative pathways
  • Fetal genome
  • Conclusion
  • 6: Ambiguous Genitalia
  • Abstract
  • Introduction
  • Talking with the parents
  • Terminology
  • Sex determination
  • Development of the reproductive system
  • Mouse models
  • Sex chromosome disorders
  • Disorders associated with disorders of sex development and additional congenital anomalies (Table 6.2)
  • Disorders associated with 46,XX disorders of sex development and 46,XY disorders of sex development (Table 6.3)
  • Nonsyndromic 46,XY disorders of sex development (Gonadal dysgenesis) (see Table 6.3)
  • Ovotesticular disorder of sex development
  • Nonsyndromic XX disorders of sex development (Table 6.4)
  • XX Disorder of sex development/Premature ovarian failure
  • Vanishing testes
  • Disorders of cholesterol and steroid biosynthesis
  • Side chain cleavage cytochrome P450 enzyme
  • Virilizing congenital adrenal hyperplasias
  • Defects in sex steroid biosynthesis
  • Maternal hyperandrogenism
  • Disorders of androgen action
  • Mullerian duct abnormalities
  • Microphallus, hypospadias, and cryptorchidism
  • Environmental disruptors
  • Other disorders
  • Exstrophy of bladder
  • Diagnosis
  • Treatment
  • Conclusions
  • 7: Hypoglycemia in the Newborn and Infant
  • Abstract
  • Introduction
  • Principles of glucose metabolism
  • Physiology of perinatal glucose homeostasis
  • Hormonal and metabolic systems of fasting adaptation
  • Definition hypoglycemia in neonates and infants
  • Clinical symptoms and signs associated with hypoglycemia
  • Diagnostic approach
  • Classification of causes of persistent hypoglycemia in the neonate and infant (Box 7.4)
  • Management and Treatment of Hyperinsulinism
  • Treatment
  • Conclusions
  • 8: Disorders of the Thyroid in the Newborn and Infant
  • Abstract
  • Introduction
  • Embryology, physiology, and physiopathology
  • Congenital Hypothyroidism
  • Congenital Hyperthyroidism
  • Disorders of serum thyroid hormone transport
  • 9: Disorders of Mineral Metabolism: Normal Homeostasis
  • Abstract
  • Calcium
  • Phosphate
  • Magnesium
  • Alkaline phosphatase
  • Parathyroid hormone; parathyroid hormone-related protein; PTH/PTHRP receptors
  • Calcitonin
  • Vitamin D
  • Skeleton: cartilage and bone
  • 10: Monogenic Diabetes Mellitus: Neonatal Diabetes and Maturity-Onset Diabetes of the Young
  • Abstract
  • Introduction
  • Definition
  • Incidence
  • Clinical presentation
  • Transient neonatal diabetes mellitus
  • Permanent neonatal diabetes mellitus
  • Diagnosis and treatment of neonatal diabetes mellitus
  • Monogenic causes of diabetes of adolescence/young adulthood: maturity-onset diabetes of the young
  • Available resources
  • Transition to oral therapy
  • Future directions
  • Section III: Childhood and Adolescent Endocrinology
  • 11: Disorders of Childhood Growth
  • Abstract
  • Introduction
  • Childhood growth
  • Disorders of childhood growth
  • 12: Disorders of the Posterior Pituitary
  • Abstract
  • Introduction
  • Physiology of osmotic and volume regulation
  • Approach to the patient: Differential diagnosis of disorders of water metabolism
  • Specific disorders of water metabolism
  • Concluding remarks
  • 13: Thyroid Disorders in Children and Adolescents
  • Abstract
  • Introduction
  • Clinical and biochemical assessment of thyroid status
  • Hypothyroidism
  • Thyroid hormone resistance
  • Hyperthyroidism
  • Neonatal thyrotoxicosis
  • Other causes of hyperthryoidism
  • Thyroid nodules and thyroid cancer
  • 14: The Adrenal Cortex and Its Disorders
  • Abstract
  • History, embryology, and anatomy
  • Steroid hormone synthesis
  • Regulation of steroidogenesis
  • Plasma steroids and their disposal
  • Clinical and laboratory evaluation of adrenal function
  • Genetic lesions in steroidogenesis
  • Adrenal insufficiency
  • Adrenal excess
  • Glucocorticoid therapy and withdrawal
  • Concluding remarks
  • 15: Pheochromocytoma/Paraganglioma, Medullary Thyroid Carcinoma, and Hereditary Endocrine Neoplasia Syndromes
  • Abstract
  • Introduction
  • Genetic counseling and testing
  • Pheochromocytoma and paraganglioma
  • Medullary thyroid carcinoma
  • Hereditary endocrine neoplasia syndromes
  • Other tumor syndromes associated with endocrine neoplasia
  • Summary and future developments
  • 16: Puberty in the Female and Its Disorders
  • Abstract
  • Development of the female reproductive system
  • Normal hormonal and sexual developmental stages
  • Abnormal puberty
  • Future directions
  • 17: Turner Syndrome
  • Abstract
  • Historical background
  • Genetics
  • Clinical characteristics and comorbidities
  • Medical management
  • Transition to adult care
  • 18: Puberty and Its Disorders in the Male
  • Abstract
  • Development of the reproductive endocrine system
  • Physiology of puberty
  • Regulation of the timing of puberty
  • Precocious puberty
  • Delayed puberty
  • Evaluation of the young man with delayed puberty
  • Treatment of delayed puberty
  • Gynecomastia
  • Conclusion
  • 19: Care of Transgender/Gender Nonconforming Youth
  • Abstract
  • Introduction
  • Definitions and epidemiology
  • Biological determinants of gender identity
  • Emergence and developmental trajectories of gender
  • Mental health comorbidities associated with gender dysphoria
  • Natural history of gender dysphoria
  • Role of mental health in multidisciplinary care
  • Medical treatment
  • Challenges to delivery of care
  • Conclusions
  • 20: Disorders of Mineral Metabolism II. Abnormalities of Mineral Homeostasis in the Newborn, Infant, Child, and Adolescent
  • Abstract
  • Acknowledgment
  • Hypocalcemia
  • Hypercalcemia
  • Disorders of magnesium metabolism
  • Disorders of bone
  • Osteochondrodysplasias
  • Concluding remarks
  • 21: Diabetes Mellitus
  • Abstract
  • Introduction
  • Classification
  • Type 1 diabetes mellitus
  • Diabetic ketoacidosis pathophysiology and treatment
  • Treatment of type 1 diabetes mellitus
  • Insulin regimens
  • Automated insulin delivery—Closed-Loop (Artificial pancreas)
  • The emerging digital world of diabetes
  • Living with Diabetes
  • Complications of diabetes
  • Type 2 diabetes mellitus
  • Genetic defects of beta cell function
  • Genetic defects in insulin action
  • Acquired defects in insulin action
  • Genetic syndromes with diabetes and insulin resistance or insulin deficiency
  • Concluding remarks
  • 22: Autoimmune Polyglandular Syndromes
  • Abstract
  • Introduction
  • Mechanisms underlying tolerance
  • Classification of the autoimmune polyglandular syndromes
  • Genetics of APS I and APS II
  • Clinical aspects
  • Diagnostic approach and follow-up
  • Treatment
  • Autoantibodies in autoimmune polyglandular syndromes
  • Summary
  • 23: Hypoglycemia in the Toddler and Child
  • Abstract
  • Introduction
  • Physiologic development of glucose metabolism during infancy and childhood
  • Symptoms, signs, and effects of hypoglycemia
  • Definition of hypoglycemia
  • Fasting systems approach to the diagnosis of hypoglycemia
  • Major causes of hypoglycemia in the toddler and child
  • Emergency treatment of hypoglycemia
  • Appendix: Useful Tests for Diagnosis of Hypoglycemia Disorders
  • 24: Obesity, Metabolic Syndrome and Disorders of Energy Balance
  • Abstract
  • Introduction
  • Energy balance
  • Homeostatic system for energy balance
  • Non-homeostatic regulation of energy balance
  • Dysregulation of energy balance
  • Energy excess—obesity
  • Metabolic impact of childhood obesity
  • Factors associated with the current epidemic of obesity
  • Disorders of obesity
  • Evaluation and treatment of pediatric obesity
  • Energy inadequacy
  • Conclusions
  • Abbreviations
  • 25: Lipid Disorders in Children and Adolescents
  • Abstract
  • Introduction
  • Metabolism
  • Hypolipidemias
  • Secondary causes
  • Vascular changes and dyslipidemia
  • Screening for lipid disorders
  • Diet therapy in managing dyslipidemia
  • Pharmacologic management
  • Conclusions and future directions
  • Index

Product details

  • No. of pages: 1072
  • Language: English
  • Copyright: © Elsevier 2020
  • Published: July 22, 2020
  • Imprint: Elsevier
  • Hardcover ISBN: 9780323625203
  • eBook ISBN: 9780323625210

About the Author

Mark Sperling

Affiliations and Expertise

Professor and Chair Emeritus, Department of Pediatrics, University of Pittsburgh School of Medicine; Division of Endocrinology, Metabolism, and Diabetes Mellitus, Children’s Hospital of Pittsburgh, Pittsburgh, Pennsylvania

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