BOOK
Pediatric Endocrinology, An Issue of Endocrinology and Metabolism Clinics of North America, E-Book
(2016)
Additional Information
Book Details
Abstract
This issue of Endocrinology and Metabolism Clinics, edited by Dr. Robert Rapaport, is devoted to Pediatric Endocrinology. Articles in this issue include: Thyroid Cancer in Pediatrics; Gender and Sex Assignment; CAH Prenatal Diagnosis; Diabetes; Polycystic Ovarian Disease; Newborn Screening for X-linked ALD; Growth in Patients w/ Skeletal Dysplasia; Thyroid Imaging in Infants; Bariatric Surgery in Youth; Pituitary Imaging in Pediatrics; and Cardiac and Metabolic Features of GH Deficiency.
Table of Contents
| Section Title | Page | Action | Price |
|---|---|---|---|
| Front Cover | Cover | ||
| Pediatric Endocrinology | i | ||
| Copyright | ii | ||
| Contributors | iii | ||
| CONSULTING EDITORS | iii | ||
| EDITOR | iii | ||
| AUTHORS | iii | ||
| Contents | vii | ||
| Foreword: Pediatric Endocrinology | vii | ||
| Preface: Focus on Pediatric Endocrinology: Time to Revisit Some Established Challenges and Explore New Ones | vii | ||
| Update of Thyroid Developmental Genes | vii | ||
| Thyroid Imaging in Infants | vii | ||
| Prenatal Diagnosis of Congenital Adrenal Hyperplasia | vii | ||
| Growth and Metabolism in Children Born Small for Gestational Age | viii | ||
| Endocrine Dysfunction in X-Linked Adrenoleukodystrophy | viii | ||
| Diagnosis and Clinical Genetics of Cushing Syndrome in Pediatrics | viii | ||
| Polycystic Ovary Syndrome in Adolescents | viii | ||
| Genetic Techniques in the Evaluation of Short Stature | ix | ||
| Thyroid Cancer in Pediatrics | ix | ||
| Cardiovascular Risk in Growth Hormone Deficiency: Beneficial Effects of Growth Hormone Replacement Therapy | ix | ||
| Bariatric Surgery in Youth | ix | ||
| Update on Bone Health in Pediatric Chronic Disease | x | ||
| Advances in Imaging of the Pediatric Pituitary Gland | x | ||
| Racial and Ethnic Disparities in the Incidence, Treatment, and Outcomes of Youth with Type 1 Diabetes | x | ||
| Gender Incongruity in Children With and Without Disorders of Sexual Differentiation | xi | ||
| ENDOCRINOLOGY AND\rMETABOLISM CLINICS OF\rNORTH AMERICA | xii | ||
| FORTHCOMING ISSUES | xii | ||
| September 2016 | xii | ||
| December 2016 | xii | ||
| March 2017 | xii | ||
| RECENT ISSUES | xii | ||
| March 2016 | xii | ||
| December 2015 | xii | ||
| September 2015 | xii | ||
| Foreword:\rPediatric Endocrinology | xiii | ||
| Preface:\rFocus on Pediatric Endocrinology: Time to Revisit Some Established Challenges and Explore New Ones | xvii | ||
| Update of Thyroid Developmental Genes | 243 | ||
| Key points | 243 | ||
| INTRODUCTION | 243 | ||
| Development of the Thyroid Gland | 244 | ||
| Embryogenesis | 244 | ||
| Differentiation and thyroid hormone synthesis | 244 | ||
| Genetics of Thyroid Dysgenesis | 245 | ||
| Inheritance | 245 | ||
| Monogenetic forms of thyroid dysgenesis | 246 | ||
| Thyroid-stimulating hormone receptor TSHR gene (OMIM | 246 | ||
| NKX2-1 (OMIM | 246 | ||
| PAX8 (OMIM | 248 | ||
| FOXE1 (OMIM | 249 | ||
| FOXE1 polyalanine tract length and thyroid dysgenesis | 249 | ||
| NKX2-5 (OMIM | 249 | ||
| New candidate genes | 249 | ||
| Alternative mechanisms involved in thyroid dysgenesis | 250 | ||
| Multigenic model in thyroid dysgenesis | 250 | ||
| Epigenetic mechanisms | 250 | ||
| Genomic structure variants—copy number variants | 250 | ||
| SUMMARY AND FUTURE CONSIDERATIONS | 251 | ||
| ACKNOWLEDGMENTS | 251 | ||
| REFERENCES | 251 | ||
| Thyroid Imaging in Infants | 255 | ||
| Key points | 255 | ||
| INTRODUCTION | 255 | ||
| TREATMENT, RE-EVALUATION, AND OUTCOME CONSIDERATIONS | 257 | ||
| DIAGNOSTIC IMAGING STUDIES | 257 | ||
| Ultrasound | 257 | ||
| Thyroid Scanning: 99mTc-pertechnetate and Radioisotope 123Iodine | 261 | ||
| SUMMARY | 262 | ||
| REFERENCES | 263 | ||
| Prenatal Diagnosis of Congenital Adrenal Hyperplasia | 267 | ||
| Key points | 267 | ||
| INTRODUCTION | 267 | ||
| HORMONAL MEASUREMENTS IN AMNIOTIC FLUID | 269 | ||
| MOLECULAR GENETICS | 269 | ||
| DEXAMETHASONE TREATMENT AND CONTROVERSY | 270 | ||
| FETAL SEX DETERMINATION | 272 | ||
| NONINVASIVE PRENATAL DIAGNOSIS | 273 | ||
| SUMMARY | 275 | ||
| REFERENCES | 275 | ||
| Growth and Metabolism in Children Born Small for Gestational Age | 283 | ||
| Key points | 283 | ||
| INTRODUCTION | 283 | ||
| SMALL FOR GESTATIONAL AGE | 285 | ||
| EFFECTS OF GROWTH HORMONE TREATMENT IN CHILDREN BORN SMALL FOR GESTATIONAL AGE | 285 | ||
| Effects on Longitudinal Growth | 285 | ||
| Effects on Body Composition, Insulin Sensitivity, and Cardiovascular Risk Factors | 287 | ||
| METABOLIC AND ENDOCRINE CONSEQUENCES IN ADULTS BORN SMALL FOR GESTATIONAL AGE | 291 | ||
| Metabolic and Endocrine Consequences in Untreated Adults Born Small for Gestational Age | 291 | ||
| Metabolic and Endocrine Consequences in Growth Hormone–Treated Adults Born Small for Gestational Age | 291 | ||
| COMBINING GROWTH HORMONE TREATMENT WITH GONADOTROPIN-RELEASING HORMONE ANALOG TREATMENT | 291 | ||
| SUMMARY | 292 | ||
| REFERENCES | 292 | ||
| Endocrine Dysfunction in X-Linked Adrenoleukodystrophy | 295 | ||
| Key points | 295 | ||
| INTRODUCTION | 295 | ||
| PATHOPHYSIOLOGY | 296 | ||
| EPIDEMIOLOGY OF X-LINKED ADRENOLEUKODYSTROPHY AND ADRENAL INSUFFICIENCY | 296 | ||
| CLINICAL PRESENTATION OF ADRENAL INSUFFICIENCY | 298 | ||
| DIAGNOSIS OF X-LINKED ADRENOLEUKODYSTROPHY AND NEWBORN SCREENING | 298 | ||
| MONITORING AND DIAGNOSIS OF ADRENAL INSUFFICIENCY | 299 | ||
| TREATMENT OF ADRENAL INSUFFICIENCY | 300 | ||
| Chronic Treatment and Monitoring | 300 | ||
| Treatment of Acute Adrenal Crisis and Stress Dosing | 302 | ||
| TESTICULAR DYSFUNCTION | 303 | ||
| SUMMARY | 305 | ||
| REFERENCES | 305 | ||
| Diagnosis and Clinical Genetics of Cushing Syndrome in Pediatrics | 311 | ||
| Key points | 311 | ||
| INTRODUCTION: EPIDEMIOLOGY OF CUSHING SYNDROME AND CLINICAL PRESENTATION | 311 | ||
| CAUSES OF ENDOGENOUS CUSHING SYNDROME IN CHILDREN AND ADOLESCENTS | 312 | ||
| CONFIRMATION OF ENDOGENOUS CUSHING SYNDROME AND DIFFERENTIAL DIAGNOSIS | 316 | ||
| Documenting Hypercortisolemia | 316 | ||
| Pseudo-Cushing Syndrome | 318 | ||
| Differential Diagnosis Between Various Types of Cushing Syndrome | 318 | ||
| The Use of Imaging in the Workup of Cushing Syndrome | 319 | ||
| CLINICAL CASE PRESENTATION: CASE 1 | 320 | ||
| TREATMENT FOR ENDOGENOUS CAUSES OF CUSHING SYNDROME | 321 | ||
| CLINICAL CASE PRESENTATION: CASE 2 | 322 | ||
| GENETIC CAUSES OF CUSHING SYNDROME IN PEDIATRIC PATIENTS | 324 | ||
| SUMMARY | 325 | ||
| ACKNOWLEDGMENTS | 326 | ||
| REFERENCES | 326 | ||
| Polycystic Ovary Syndrome in Adolescents | 329 | ||
| Key points | 329 | ||
| INTRODUCTION/BACKGROUND | 329 | ||
| GENETICS OF POLYCYSTIC OVARY SYNDROME | 331 | ||
| SYMPTOMS AND FINDINGS | 333 | ||
| Hyperandrogenism | 333 | ||
| Clinical | 333 | ||
| Biochemical | 333 | ||
| Menstrual Irregularity and Ovulatory Dysfunction | 334 | ||
| Ovarian Size and Morphology | 334 | ||
| Metabolic Disturbances | 335 | ||
| DIAGNOSTIC TESTS | 335 | ||
| Androgen Concentrations | 335 | ||
| Anti-Müllerian Hormone Concentrations | 336 | ||
| DIFFERENTIAL DIAGNOSIS | 336 | ||
| TREATMENT AND GOALS | 337 | ||
| Management | 337 | ||
| Weight loss | 337 | ||
| Hormonal contraceptives | 338 | ||
| Metformin | 338 | ||
| FUTURE CONTRIBUTIONS | 338 | ||
| REFERENCES | 338 | ||
| Genetic Techniques in the Evaluation of Short Stature | 345 | ||
| Key points | 345 | ||
| INTRODUCTION | 345 | ||
| GENETIC TESTING STRATEGIES | 346 | ||
| CHROMOSOME ANALYSIS | 346 | ||
| TARGETED OR MULTIGENE SEQUENCING | 347 | ||
| GROWTH HORMONE DEFICIENCY | 347 | ||
| MULTIPLE PITUITARY HORMONE DEFICIENCIES | 348 | ||
| TARGETING BONE GROWTH | 348 | ||
| GENOMIC TECHNOLOGIES | 350 | ||
| CHROMOSOME MICROARRAY ANALYSIS | 350 | ||
| WHOLE-GENOME AND WHOLE-EXOME SEQUENCING | 351 | ||
| SUMMARY | 354 | ||
| REFERENCES | 355 | ||
| Thyroid Cancer in Pediatrics | 359 | ||
| Key points | 359 | ||
| INTRODUCTION | 359 | ||
| EPIDEMIOLOGY | 360 | ||
| EVALUATION OF THYROID NODULES | 360 | ||
| DIAGNOSIS | 361 | ||
| SURGERY | 365 | ||
| OPERATIVE STAGING | 365 | ||
| POSTOPERATIVE STAGING | 367 | ||
| Serum Thyroglobulin Assays | 367 | ||
| WHOLE-BODY RADIOIODINE IMAGING | 370 | ||
| Patient Preparation | 370 | ||
| Thyroid Stimulating Hormone Stimulation with Levothyroxine Withdrawal | 371 | ||
| Use of Recombinant Thyroid Stimulating Hormone | 371 | ||
| Use of Iodine-131 for Diagnostic Whole Body Imaging | 371 | ||
| Use of Iodine-123 for Diagnostic Whole Body Imaging | 372 | ||
| Detection of Thyroid Remnants and Local and Distal Metastases | 372 | ||
| RADIOIODINE THERAPY | 373 | ||
| Ablation Therapy | 373 | ||
| So in Which Patients Is Iodine-131 Therapy Recommended? | 374 | ||
| Patient Preparation for Iodine-131 Therapy | 375 | ||
| Radioiodine Dosage Regiments and Effectiveness | 375 | ||
| SIDE EFFECTS AND COMPLICATIONS OF RADIOIODINE THERAPY | 376 | ||
| The Short-Term Side Effects | 376 | ||
| Bone Marrow Effects | 376 | ||
| Carcinogenesis | 376 | ||
| Gonadal Damage | 377 | ||
| Therapy in Women Post-Partum | 377 | ||
| Regulations Regarding Hospitalization of Patients Treated with Radioiodine | 377 | ||
| POSTTHERAPY RADIOIODINE IMAGING | 378 | ||
| LEVOTHYROXINE (THYROID STIMULATING HORMONE SUPPRESSION) THERAPY | 379 | ||
| The Risk of Thyroid Stimulating Hormone Suppression | 380 | ||
| SURVEILLANCE AND FOLLOW-UP | 382 | ||
| Thyroglobulin Level Monitoring | 383 | ||
| Follow-up with Ultrasound | 384 | ||
| Follow-up with Diagnostic Whole Body Imaging | 384 | ||
| TREATMENT OF RESIDUAL DISEASE | 385 | ||
| Radioiodine Therapy | 385 | ||
| Radioiodine Treatment of Pulmonary Metastases | 385 | ||
| MANAGEMENT OF CHILDREN WITH PROGRESSIVE NON-RADIOIODINE-AVID THYROID CANCER | 387 | ||
| LONG-TERM FOLLOW-UP IN CHILDREN WITH DIFFERENTIATED THYROID CANCER | 388 | ||
| PSYCHOSOCIAL ISSUES IN CHILDREN WITH DIFFERENTIATED THYROID CANCER | 392 | ||
| SUMMARY | 392 | ||
| REFERENCES | 392 | ||
| Cardiovascular Risk in Growth Hormone Deficiency | 405 | ||
| Key points | 405 | ||
| INTRODUCTION | 405 | ||
| ABNORMALITIES IN BODY COMPOSITION AND THE EFFECT OF GROWTH HORMONE THERAPY | 406 | ||
| BIOCHEMICAL ALTERATIONS AND THE EFFECT OF GROWTH HORMONE THERAPY | 407 | ||
| Fasting and Postprandial Lipids | 407 | ||
| Coagulation Factors | 409 | ||
| Homocysteine | 410 | ||
| Endothelial Dysfunction | 410 | ||
| Adiponectin | 412 | ||
| ULTRASOUND ABNORMALITIES AND THE EFFECT OF GROWTH HORMONE THERAPY | 412 | ||
| Cardiac Mass and Function | 412 | ||
| Intima-Media Thickness and Vascular Reactivity | 413 | ||
| SUMMARY | 414 | ||
| REFERENCES | 414 | ||
| Bariatric Surgery in Youth | 419 | ||
| Key points | 419 | ||
| DEFINITION | 419 | ||
| EPIDEMIOLOGY | 419 | ||
| ETIOLOGY | 420 | ||
| Associated Conditions | 420 | ||
| Neurologic | 420 | ||
| Cardiovascular | 420 | ||
| Pulmonary | 421 | ||
| Gastrointestinal | 421 | ||
| Musculoskeletal | 421 | ||
| Endocrine | 421 | ||
| Psychosocial | 422 | ||
| Mortality | 422 | ||
| Nonoperative Management of Pediatric Obesity | 422 | ||
| Operative Management of Pediatric Obesity | 423 | ||
| Criteria for surgical intervention | 423 | ||
| Bariatric surgical procedures performed | 424 | ||
| Malabsorptive procedures | 424 | ||
| Malabsorptive and restrictive procedures | 425 | ||
| Restrictive procedures | 425 | ||
| Special considerations | 426 | ||
| Future work | 427 | ||
| SUMMARY | 427 | ||
| REFERENCES | 428 | ||
| Update on Bone Health in Pediatric Chronic Disease | 433 | ||
| Key points | 433 | ||
| INTRODUCTION | 433 | ||
| OVERVIEW OF BONE HEALTH | 434 | ||
| CHRONIC DISEASE AND BONE HEALTH | 434 | ||
| MEASUREMENT OF BONE DENSITY | 435 | ||
| PEDIATRIC BONE HEALTH: CYSTIC FIBROSIS | 436 | ||
| PEDIATRIC BONE HEALTH: CELIAC DISEASE | 437 | ||
| PEDIATRIC BONE HEALTH: TYPE 1 DIABETES MELLITUS | 438 | ||
| TREATMENT OF PEDIATRIC BONE DISEASE | 438 | ||
| SUMMARY | 439 | ||
| REFERENCES | 439 | ||
| Advances in Imaging of the Pediatric Pituitary Gland | 443 | ||
| Key points | 443 | ||
| INTRODUCTION | 443 | ||
| Computed Tomography | 443 | ||
| MRI | 444 | ||
| ADVANCED IMAGING OF SELLA | 447 | ||
| Magnetic Resonance Elastography | 447 | ||
| Magnetic Resonance Spectroscopy | 447 | ||
| Perfusion Imaging | 449 | ||
| Diffusion-Weighted Imaging | 449 | ||
| Diffusion Tensor Imaging | 450 | ||
| REFERENCES | 450 | ||
| Racial and Ethnic Disparities in the Incidence, Treatment, and Outcomes of Youth with Type 1 Diabetes | 453 | ||
| Key points | 453 | ||
| INTRODUCTION | 453 | ||
| INCIDENCE AND PREVALENCE OF TYPE 1 DIABETES MELLITUS | 454 | ||
| Incidence and Prevalence in Non-Hispanic White Youths | 454 | ||
| Incidence and Prevalence in Non-Hispanic Black Youths | 454 | ||
| Incidence and Prevalence in Hispanic Youths | 454 | ||
| Differences in the Socioeconomic Characteristics of Children with Type 1 Diabetes Mellitus | 455 | ||
| RACIAL AND ETHNIC DISPARITIES IN THE TREATMENT OF YOUTHS WITH TYPE 1 DIABETES MELLITUS | 455 | ||
| Blood Glucose Monitoring | 455 | ||
| Insulin Therapy | 456 | ||
| Continuous Glucose Monitoring | 456 | ||
| Reasons for Disparities in the Treatment of Type 1 Diabetes Mellitus in Children | 457 | ||
| RACIAL/ETHNIC DISPARITIES IN OUTCOMES OF YOUTHS WITH TYPE 1 DIABETES MELLITUS | 457 | ||
| Glycemic Control as Measured by Hemoglobin A1c | 457 | ||
| Diabetic Ketoacidosis | 457 | ||
| Severe Hypoglycemia | 459 | ||
| Diabetic Retinopathy | 459 | ||
| Diabetic Nephropathy | 459 | ||
| Diabetic Neuropathy | 459 | ||
| Diabetes-Related Mortality | 459 | ||
| SUMMARY | 460 | ||
| REFERENCES | 460 | ||
| Gender Incongruity in Children With and Without Disorders of Sexual Differentiation | 463 | ||
| Key points | 463 | ||
| INTRODUCTION | 463 | ||
| DISORDERS OF SEXUAL DIFFERENTIATION OVERVIEW | 464 | ||
| HISTORY OF SEX ASSIGNMENT IN PATIENTS WITH DISORDERS OF SEXUAL DIFFERENTIATION | 464 | ||
| Biology of Gender | 466 | ||
| DEFINITIONS | 467 | ||
| GENDER DYSPHORIA | 468 | ||
| Persistence and Desistence | 468 | ||
| Mental Health Assessment | 470 | ||
| MENTAL HEALTH COMORBIDITIES | 471 | ||
| MENTAL HEALTH TREATMENT | 471 | ||
| ETHICAL ISSUES IN TREATING CHILDREN AND ADOLESCENTS | 472 | ||
| ENDOCRINE MANAGEMENT OF TRANSGENDER ADOLESCENTS | 473 | ||
| Pubertal Suppression | 473 | ||
| Cross-Sex Hormone Therapy | 475 | ||
| FUTURE CONSIDERATIONS | 478 | ||
| SUMMARY | 479 | ||
| ACKNOWLEDGMENTS | 479 | ||
| REFERENCES | 479 | ||
| Index | 483 |