Pediatric Endocrinology, An Issue of Endocrinology and Metabolism Clinics of North America

Name: Pediatric Endocrinology, An Issue of Endocrinology and Metabolism Clinics of North America
Brand: Elsevier
Price: 103.52 EUR
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Robert Rapaport(Autor*in)

Elsevier (Verlag)

1. Auflage

Erschienen am 11. Juni 2016

100 Seiten

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978-0-323-44613-6 (ISBN)

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Front Cover
Pediatric Endocrinology
Copyright
Contributors
CONSULTING EDITORS
EDITOR
AUTHORS
Contents
Foreword: Pediatric Endocrinology
Preface: Focus on Pediatric Endocrinology: Time to Revisit Some Established Challenges and Explore New Ones
Update of Thyroid Developmental Genes
Thyroid Imaging in Infants
Prenatal Diagnosis of Congenital Adrenal Hyperplasia
Growth and Metabolism in Children Born Small for Gestational Age
Endocrine Dysfunction in X-Linked Adrenoleukodystrophy
Diagnosis and Clinical Genetics of Cushing Syndrome in Pediatrics
Polycystic Ovary Syndrome in Adolescents
Genetic Techniques in the Evaluation of Short Stature
Thyroid Cancer in Pediatrics
Cardiovascular Risk in Growth Hormone Deficiency: Beneficial Effects of Growth Hormone Replacement Therapy
Bariatric Surgery in Youth
Update on Bone Health in Pediatric Chronic Disease
Advances in Imaging of the Pediatric Pituitary Gland
Racial and Ethnic Disparities in the Incidence, Treatment, and Outcomes of Youth with Type 1 Diabetes
Gender Incongruity in Children With and Without Disorders of Sexual Differentiation
ENDOCRINOLOGY AND METABOLISM CLINICS OF NORTH AMERICA
FORTHCOMING ISSUES
September 2016
December 2016
March 2017
RECENT ISSUES
March 2016
December 2015
September 2015
Foreword: Pediatric Endocrinology
Preface: Focus on Pediatric Endocrinology: Time to Revisit Some Established Challenges and Explore New Ones
Update of Thyroid Developmental Genes
Key points
INTRODUCTION
Development of the Thyroid Gland
Embryogenesis
Differentiation and thyroid hormone synthesis
Genetics of Thyroid Dysgenesis
Inheritance
Monogenetic forms of thyroid dysgenesis
Thyroid-stimulating hormone receptor TSHR gene (OMIM#603372)
NKX2-1 (OMIM#600635)
PAX8 (OMIM#218700)
FOXE1 (OMIM#602617)
FOXE1 polyalanine tract length and thyroid dysgenesis
NKX2-5 (OMIM#600584)
New candidate genes
Alternative mechanisms involved in thyroid dysgenesis
Multigenic model in thyroid dysgenesis
Epigenetic mechanisms
Genomic structure variants-copy number variants
SUMMARY AND FUTURE CONSIDERATIONS
ACKNOWLEDGMENTS
REFERENCES
Thyroid Imaging in Infants
Key points
INTRODUCTION
TREATMENT, RE-EVALUATION, AND OUTCOME CONSIDERATIONS
DIAGNOSTIC IMAGING STUDIES
Ultrasound
Thyroid Scanning: 99mTc-pertechnetate and Radioisotope 123Iodine
SUMMARY
REFERENCES
Prenatal Diagnosis of Congenital Adrenal Hyperplasia
Key points
INTRODUCTION
HORMONAL MEASUREMENTS IN AMNIOTIC FLUID
MOLECULAR GENETICS
DEXAMETHASONE TREATMENT AND CONTROVERSY
FETAL SEX DETERMINATION
NONINVASIVE PRENATAL DIAGNOSIS
SUMMARY
REFERENCES
Growth and Metabolism in Children Born Small for Gestational Age
Key points
INTRODUCTION
SMALL FOR GESTATIONAL AGE
EFFECTS OF GROWTH HORMONE TREATMENT IN CHILDREN BORN SMALL FOR GESTATIONAL AGE
Effects on Longitudinal Growth
Effects on Body Composition, Insulin Sensitivity, and Cardiovascular Risk Factors
METABOLIC AND ENDOCRINE CONSEQUENCES IN ADULTS BORN SMALL FOR GESTATIONAL AGE
Metabolic and Endocrine Consequences in Untreated Adults Born Small for Gestational Age
Metabolic and Endocrine Consequences in Growth Hormone-Treated Adults Born Small for Gestational Age
COMBINING GROWTH HORMONE TREATMENT WITH GONADOTROPIN-RELEASING HORMONE ANALOG TREATMENT
SUMMARY
REFERENCES
Endocrine Dysfunction in X-Linked Adrenoleukodystrophy
Key points
INTRODUCTION
PATHOPHYSIOLOGY
EPIDEMIOLOGY OF X-LINKED ADRENOLEUKODYSTROPHY AND ADRENAL INSUFFICIENCY
CLINICAL PRESENTATION OF ADRENAL INSUFFICIENCY
DIAGNOSIS OF X-LINKED ADRENOLEUKODYSTROPHY AND NEWBORN SCREENING
MONITORING AND DIAGNOSIS OF ADRENAL INSUFFICIENCY
TREATMENT OF ADRENAL INSUFFICIENCY
Chronic Treatment and Monitoring
Treatment of Acute Adrenal Crisis and Stress Dosing
TESTICULAR DYSFUNCTION
SUMMARY
REFERENCES
Diagnosis and Clinical Genetics of Cushing Syndrome in Pediatrics
Key points
INTRODUCTION: EPIDEMIOLOGY OF CUSHING SYNDROME AND CLINICAL PRESENTATION
CAUSES OF ENDOGENOUS CUSHING SYNDROME IN CHILDREN AND ADOLESCENTS
CONFIRMATION OF ENDOGENOUS CUSHING SYNDROME AND DIFFERENTIAL DIAGNOSIS
Documenting Hypercortisolemia
Pseudo-Cushing Syndrome
Differential Diagnosis Between Various Types of Cushing Syndrome
The Use of Imaging in the Workup of Cushing Syndrome
CLINICAL CASE PRESENTATION: CASE 1
TREATMENT FOR ENDOGENOUS CAUSES OF CUSHING SYNDROME
CLINICAL CASE PRESENTATION: CASE 2
GENETIC CAUSES OF CUSHING SYNDROME IN PEDIATRIC PATIENTS
SUMMARY
ACKNOWLEDGMENTS
REFERENCES
Polycystic Ovary Syndrome in Adolescents
Key points
INTRODUCTION/BACKGROUND
GENETICS OF POLYCYSTIC OVARY SYNDROME
SYMPTOMS AND FINDINGS
Hyperandrogenism
Clinical
Biochemical
Menstrual Irregularity and Ovulatory Dysfunction
Ovarian Size and Morphology
Metabolic Disturbances
DIAGNOSTIC TESTS
Androgen Concentrations
Anti-Müllerian Hormone Concentrations
DIFFERENTIAL DIAGNOSIS
TREATMENT AND GOALS
Management
Weight loss
Hormonal contraceptives
Metformin
FUTURE CONTRIBUTIONS
REFERENCES
Genetic Techniques in the Evaluation of Short Stature
Key points
INTRODUCTION
GENETIC TESTING STRATEGIES
CHROMOSOME ANALYSIS
TARGETED OR MULTIGENE SEQUENCING
GROWTH HORMONE DEFICIENCY
MULTIPLE PITUITARY HORMONE DEFICIENCIES
TARGETING BONE GROWTH
GENOMIC TECHNOLOGIES
CHROMOSOME MICROARRAY ANALYSIS
WHOLE-GENOME AND WHOLE-EXOME SEQUENCING
SUMMARY
REFERENCES
Thyroid Cancer in Pediatrics
Key points
INTRODUCTION
EPIDEMIOLOGY
EVALUATION OF THYROID NODULES
DIAGNOSIS
SURGERY
OPERATIVE STAGING
POSTOPERATIVE STAGING
Serum Thyroglobulin Assays
WHOLE-BODY RADIOIODINE IMAGING
Patient Preparation
Thyroid Stimulating Hormone Stimulation with Levothyroxine Withdrawal
Use of Recombinant Thyroid Stimulating Hormone
Use of Iodine-131 for Diagnostic Whole Body Imaging
Use of Iodine-123 for Diagnostic Whole Body Imaging
Detection of Thyroid Remnants and Local and Distal Metastases
RADIOIODINE THERAPY
Ablation Therapy
So in Which Patients Is Iodine-131 Therapy Recommended?
Patient Preparation for Iodine-131 Therapy
Radioiodine Dosage Regiments and Effectiveness
SIDE EFFECTS AND COMPLICATIONS OF RADIOIODINE THERAPY
The Short-Term Side Effects
Bone Marrow Effects
Carcinogenesis
Gonadal Damage
Therapy in Women Post-Partum
Regulations Regarding Hospitalization of Patients Treated with Radioiodine
POSTTHERAPY RADIOIODINE IMAGING
LEVOTHYROXINE (THYROID STIMULATING HORMONE SUPPRESSION) THERAPY
The Risk of Thyroid Stimulating Hormone Suppression
SURVEILLANCE AND FOLLOW-UP
Thyroglobulin Level Monitoring
Follow-up with Ultrasound
Follow-up with Diagnostic Whole Body Imaging
TREATMENT OF RESIDUAL DISEASE
Radioiodine Therapy
Radioiodine Treatment of Pulmonary Metastases
MANAGEMENT OF CHILDREN WITH PROGRESSIVE NON-RADIOIODINE-AVID THYROID CANCER
LONG-TERM FOLLOW-UP IN CHILDREN WITH DIFFERENTIATED THYROID CANCER
PSYCHOSOCIAL ISSUES IN CHILDREN WITH DIFFERENTIATED THYROID CANCER
SUMMARY
REFERENCES
Cardiovascular Risk in Growth Hormone Deficiency
Key points
INTRODUCTION
ABNORMALITIES IN BODY COMPOSITION AND THE EFFECT OF GROWTH HORMONE THERAPY
BIOCHEMICAL ALTERATIONS AND THE EFFECT OF GROWTH HORMONE THERAPY
Fasting and Postprandial Lipids
Coagulation Factors
Homocysteine
Endothelial Dysfunction
Adiponectin
ULTRASOUND ABNORMALITIES AND THE EFFECT OF GROWTH HORMONE THERAPY
Cardiac Mass and Function
Intima-Media Thickness and Vascular Reactivity
SUMMARY
REFERENCES
Bariatric Surgery in Youth
Key points
DEFINITION
EPIDEMIOLOGY
ETIOLOGY
Associated Conditions
Neurologic
Cardiovascular
Pulmonary
Gastrointestinal
Musculoskeletal
Endocrine
Psychosocial
Mortality
Nonoperative Management of Pediatric Obesity
Operative Management of Pediatric Obesity
Criteria for surgical intervention
Bariatric surgical procedures performed
Malabsorptive procedures
Malabsorptive and restrictive procedures
Restrictive procedures
Special considerations
Future work
SUMMARY
REFERENCES
Update on Bone Health in Pediatric Chronic Disease
Key points
INTRODUCTION
OVERVIEW OF BONE HEALTH
CHRONIC DISEASE AND BONE HEALTH
MEASUREMENT OF BONE DENSITY
PEDIATRIC BONE HEALTH: CYSTIC FIBROSIS
PEDIATRIC BONE HEALTH: CELIAC DISEASE
PEDIATRIC BONE HEALTH: TYPE 1 DIABETES MELLITUS
TREATMENT OF PEDIATRIC BONE DISEASE
SUMMARY
REFERENCES
Advances in Imaging of the Pediatric Pituitary Gland
Key points
INTRODUCTION
Computed Tomography
MRI
ADVANCED IMAGING OF SELLA
Magnetic Resonance Elastography
Magnetic Resonance Spectroscopy
Perfusion Imaging
Diffusion-Weighted Imaging
Diffusion Tensor Imaging
REFERENCES
Racial and Ethnic Disparities in the Incidence, Treatment, and Outcomes of Youth with Type 1 Diabetes
Key points
INTRODUCTION
INCIDENCE AND PREVALENCE OF TYPE 1 DIABETES MELLITUS
Incidence and Prevalence in Non-Hispanic White Youths
Incidence and Prevalence in Non-Hispanic Black Youths
Incidence and Prevalence in Hispanic Youths
Differences in the Socioeconomic Characteristics of Children with Type 1 Diabetes Mellitus
RACIAL AND ETHNIC DISPARITIES IN THE TREATMENT OF YOUTHS WITH TYPE 1 DIABETES MELLITUS
Blood Glucose Monitoring
Insulin Therapy
Continuous Glucose Monitoring
Reasons for Disparities in the Treatment of Type 1 Diabetes Mellitus in Children
RACIAL/ETHNIC DISPARITIES IN OUTCOMES OF YOUTHS WITH TYPE 1 DIABETES MELLITUS
Glycemic Control as Measured by Hemoglobin A1c
Diabetic Ketoacidosis
Severe Hypoglycemia
Diabetic Retinopathy
Diabetic Nephropathy
Diabetic Neuropathy
Diabetes-Related Mortality
SUMMARY
REFERENCES
Gender Incongruity in Children With and Without Disorders of Sexual Differentiation
Key points
INTRODUCTION
DISORDERS OF SEXUAL DIFFERENTIATION OVERVIEW
HISTORY OF SEX ASSIGNMENT IN PATIENTS WITH DISORDERS OF SEXUAL DIFFERENTIATION
Biology of Gender
DEFINITIONS
GENDER DYSPHORIA
Persistence and Desistence
Mental Health Assessment
MENTAL HEALTH COMORBIDITIES
MENTAL HEALTH TREATMENT
ETHICAL ISSUES IN TREATING CHILDREN AND ADOLESCENTS
ENDOCRINE MANAGEMENT OF TRANSGENDER ADOLESCENTS
Pubertal Suppression
Cross-Sex Hormone Therapy
FUTURE CONSIDERATIONS
SUMMARY
ACKNOWLEDGMENTS
REFERENCES
Index

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