Pediatric Endocrinology E-Book

Mark A. Sperling

Description

In a single, convenient volume, Pediatric Endocrinology offers complete coverage of all aspects of basic science and clinical practice, ideal for both pediatricians and endocrinologists. Pediatric endocrinology expert Dr. Mark Sperling teams up with world-renowned authors to bring you up to date with the latest key developments in every area of the field, providing invaluable guidance on how your clinical decision making will be affected by today’s technological and scientific advances.

• Consult this title on your favorite e-reader, conduct rapid searches, and adjust font sizes for optimal readability.
• Determine the best possible course for every patient with easy-to-follow algorithms in every clinical chapter.

• Stay up to date with today’s hottest topics, including neonatal diabetes mellitus, Type II childhood diabetes, molecular endocrinology, and genetics.
• Explore the impact of today’s advances and challenges, including explosive growth in molecular biology, sophisticated imaging techniques, and an increase in both pediatric diabetes and obesity.
• Quickly access the information you need with a new, streamlined organization (Concepts, Endocrine Disorders of the Newborn, Endocrine Disorders of Childhood and Adolescence, and Laboratory Tests and Imaging).

Informations

• Publié par: Saunders
• Date de parution: 10 avril 2014
• Nombre de lectures: 0
• EAN13: 9781455759736
• Langue: English
• Poids de l'ouvrage: 4 Mo

Extrait

Pediatric Endocrinology
FOURTH EDITION

Mark A. Sperling, MD
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
Table of Contents
Cover image
Title page
Copyright
Dedication
Foreword to the first edition
Preface
Acknowledgments
Contributors
SECTION I: PRINCIPLES AND METHODS OF PEDIATRIC ENDOCRINOLOGY
Chapter 1: Overview and principles of pediatric endocrinology
Historical background
Impact of hormonal assays and molecular biology
Unique aspects of pediatric endocrinology
Evaluating endocrine disorders in infancy and childhood
Concluding remarks
Questions
Chapter 2: Molecular endocrinology and endocrine genetics
Introduction
Basic molecular tools
Detection of mutations in genes
Positional genetics in endocrinology
Expression studies (microarrays, sage)
Chromosome analysis and molecular cytogenetics
Molecular basis of pediatric endocrinopathies
Principles of interpretation of genetic tests in the diagnosis and management of pediatric endocrine diseases
Recombinant DNA technology and therapy of pediatric endocrine diseases
Concluding remarks
Questions
Chapter 3: Receptor transduction pathways mediating hormone action
Introduction
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
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
QUESTIONS
Chapter 4: Laboratory methods in pediatric endocrinology
Introduction
Hormonal assays
Interpretation of test results
Clinical validation
Summary
Questions
SECTION II: ENDOCRINE DISORDERS IN THE NEONATE
Chapter 5: Ambiguous genitalia
Introduction
Talking with the parents
Terminology
Sex determination
Development of the reproductive system
Mouse models
Disorders of gonadal differentiation
Disorders of cholesterol and steroid biosynthesis (also discussed in chapter 13)
Maternal hyperandrogenism
Disorders of androgen action
Mullerian duct abnormalities
HOXA genes
Microphallus, hypospadias, and cryptorchidism
Hypogonadotropic hypogonadism
Robinow syndrome
Warburg-micro syndrome
MAMLD1
Environmental disruptors
Other disorders
Exstrophy of bladder
Diagnosis
Treatment
Conclusions
Questions
Chapter 6: Hypoglycemia in the newborn and infant
Introduction
Principles of glucose metabolism
Physiology of perinatal glucose homeostasis
Hormonal and metabolic systems of fasting adaptation
Definition of 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 6-2)
Treatment
Conclusions
Questions
Chapter 7: Disorders of the thyroid in the newborn and infant
Introduction
Embryology, physiology, and physiopathology
Congenital hypothyroidism
Congenital hyperthyroidism
Disorders of thyroid hormone transport
Questions
Chapter 8: Disorders of calcium and phosphorus homeostasis in the newborn and infant
Calcium
Phosphate
Magnesium
Alkaline phosphatase
Parathyroid hormone; parathyroid hormone–related protein; PTH/PTHRP receptors
Calcitonin
Vitamin D
Skeleton: Cartilage and bone
Mineral homeostasis during the life cycle
Questions
Chapter 9: Neonatal diabetes mellitus
Definition
Incidence
Clinical presentation
Classification
Permanent neonatal diabetes mellitus (PNDM)
Diagnosis and treatment of neonatal diabetes mellitus
Available resources
Transition to oral therapy
Future directions
Questions
SECTION III: ENDOCRINE DISORDERS IN CHILDREN AND ADOLESCENTS
Chapter 10: Disorders of growth hormone/insulin-like growth factor secretion and action
Normal growth
Measurement
Endocrine regulation of growth
Growth retardation
Treatment of growth disorders
Excess growth and tall stature
Conclusions
Questions
Chapter 11: Disorders of the posterior pituitary
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
Questions
Chapter 12: Thyroid disorders in children and adolescents
Introduction
Clinical and biochemical assessment of thyroid status
Hypothyroidism
Thyroid hormone resistance
Hyperthyroidism
Other causes of hyperthyroidism
Thyroid nodules and thyroid cancer
Medullary thyroid carcinoma
Synopsis
Questions
Chapter 13: Adrenal cortex and its disorders
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
Questions
Chapter 14: Pheochromocytoma and multiple endocrine neoplasia syndromes
Introduction
Genetic counseling and testing
Pheochromocytoma and paraganglioma
Biosynthesis and actions of catecholamines
Clinical presentation
Medullary thyroid carcinoma
Hereditary endocrine neoplasia syndromes
Multiple endocrine neoplasia 2 (MEN2)
Other tumor syndromes associated with endocrine neoplasia
Summary and future developments
Questions
Chapter 15: Puberty and its disorders in the female
Introduction
Development of the female reproductive system
Normal sexual maturation: Hormonal and physical stages
Abnormal puberty
Future directions
Questions
Chapter 16: Turner syndrome
Historical background
Genetics
Phenotypic features
Questions
Chapter 17: Puberty and its disorders in the male
Prenatal neurobiology of puberty
Testicular differentiation and development
The androgen receptor
Physiology of puberty
Regulation of the timing of puberty
Precocious puberty
Delayed puberty
Other disorders of the male reproductive endocrine axis
Evaluation of the child with delayed puberty
Treatment of delayed puberty
Testosterone: The hypogonadal male athlete and the individual with a DSD
Conclusion
Questions
Chapter 18: Disorders of mineral homeostasis in children and adolescents
Hypocalcemia
Hypercalcemia
Disorders of magnesium metabolism
Disorders of skeletal mineralization
Osteochondrodysplasias
Concluding remarks
Addendum
Questions
Chapter 19: Diabetes mellitus
Introduction
Classification
Type 1 diabetes mellitus
Treatment of type 1 diabetes mellitus (T1DM)
Insulin regimens
The future is now: Closed-loop insulin delivery
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
Questions
Chapter 20: Autoimmune polyglandular syndromes
Introduction
Mechanisms underlying generation of autoimmunity
Classification of the autoimmune polyglandular syndromes
Clinical aspects
Diagnostic approach and follow-up
Treatment
Genetics of APS I
Genetics of APS II
Autoantibodies in autoimmune polyglandular syndromes
Summary
Questions
Chapter 21: Hypoglycemia in the toddler and child
Introduction
Physiologic development of glucose metabolism during infancy and childhood
Symptoms, signs, and effects of hypoglycemia
Definition of hypoglycemia
Major causes of hypoglycemia in the infant, child, and young adult
Fasting system approach to diagnosis
Emergency treatment of hypoglycemia
Questions
Chapter 22: Obesity, metabolic syndrome, and disorders of energy balance
Introduction
Neuroendocrine regulation of energy balance
CNS modulation of food intake
Energy excess—obesity
Metabolic impact of childhood obesity
Factors associated with the current epidemic of obesity
Disorders of obes