Sperling Pediatric Endocrinology-5판

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 protein뻙oupled 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 proliferator뻕ctivated 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 delivery뾅losed-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 excess뾬besity
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