BOOK
Pediatric Endocrinology and Diabetes, An Issue of Pediatric Clinics of North America, E-Book
(2015)
Additional Information
Book Details
Abstract
The Guest Editors have compiled a comprehensive issue that includes both disorders of endocrinology as well as diabetes. Authors have addressed the following clinical topics: disorders of menstruation, thyroid function; gender dysphoria; hypoglycemia in the nondiabetic child; preventing DKA; short- and long-term outcomes in diabetes, and whole genome sequencing in endocrinology. These topics represent the current knowedge in the field, and pediatricians will have the most updated clinical information as they evaluate and treat children with diabetes or endocrinology disorders.
Table of Contents
| Section Title | Page | Action | Price |
|---|---|---|---|
| Front Cover | Cover | ||
| Pediatric Endocrinology and Diabetes\r | i | ||
| Copyright\r | ii | ||
| Contributors | v | ||
| Contents | ix | ||
| Pediatric Clinics Of North America\r | xiii | ||
| Foreword\r | xv | ||
| Preface\r | xvii | ||
| Childhood Obesity | 821 | ||
| Key points | 821 | ||
| Background | 821 | ||
| Etiology/Risk factors | 822 | ||
| Environmental Factors | 822 | ||
| Intrauterine and postnatal factors | 822 | ||
| Nutrition/Feeding behaviors | 822 | ||
| Obesity and sociodemographic influences | 823 | ||
| Pathologic Causes of Obesity | 823 | ||
| Endocrine causes | 823 | ||
| Genetic causes | 823 | ||
| Other causes | 823 | ||
| Comorbidities/Consequences of childhood obesity | 824 | ||
| Psychosocial Comorbidities | 825 | ||
| Assessment/Screening | 825 | ||
| Treatment | 826 | ||
| Nonpharmacologic Approaches | 826 | ||
| Pharmacologic Approaches | 829 | ||
| Bariatric Surgery | 829 | ||
| Prevention | 831 | ||
| Future directions | 832 | ||
| References | 835 | ||
| The Child with Multiple Fractures, What Next? | 841 | ||
| Key points | 841 | ||
| The pattern of fractures in childhood | 842 | ||
| Determinants of fracture risk | 843 | ||
| Severity of Trauma | 843 | ||
| Potential Exposure to Trauma | 843 | ||
| Bone Strength: Bone Density, Size, and Quality | 843 | ||
| Conditions associated with bone fragility | 844 | ||
| Primary Osteoporosis | 844 | ||
| Secondary Osteoporosis | 844 | ||
| Approach to the child with multiple fractures | 847 | ||
| Identifying the Child with a Clinically Significant Fracture History | 847 | ||
| First-Line Evaluation | 847 | ||
| History and clinical examination | 847 | ||
| Biochemistry | 847 | ||
| Lateral spine radiograph | 849 | ||
| Bone mineral density | 849 | ||
| Initial Management | 849 | ||
| Weight-bearing physical activity | 849 | ||
| Calcium and vitamin D | 850 | ||
| Second-Line Specialist Evaluation and Management | 850 | ||
| Genetic testing | 850 | ||
| Bone biopsy | 850 | ||
| Pharmacologic treatments | 851 | ||
| Summary | 851 | ||
| References | 851 | ||
| Preventing Diabetic Ketoacidosis | 857 | ||
| Key points | 857 | ||
| Introduction | 858 | ||
| Epidemiology and causes of diabetic ketoacidosis | 858 | ||
| Diabetic ketoacidosis at diagnosis | 858 | ||
| Age | 860 | ||
| Ethnic Minority | 861 | ||
| Lower Socioeconomic Status | 861 | ||
| Lack of Private Health Insurance | 861 | ||
| Delayed Diagnosis | 861 | ||
| Diagnostic Error | 861 | ||
| Preceding Infectious Illness | 862 | ||
| Protective Factors | 862 | ||
| Can Diabetic Ketoacidosis Be Prevented at Diagnosis? | 862 | ||
| Diabetic ketoacidosis in established type 1 diabetes mellitus | 863 | ||
| Epidemiology | 863 | ||
| Risk Factors in Children with Established Type 1 Diabetes Mellitus | 864 | ||
| Poor glycemic control | 865 | ||
| Prevention of recurrent diabetic ketoacidosis | 866 | ||
| Summary | 867 | ||
| References | 867 | ||
| The Impact of Technology on Current Diabetes Management | 873 | ||
| Key points | 873 | ||
| Introduction | 873 | ||
| New insulins | 874 | ||
| Rapid-acting analogues | 876 | ||
| Long-acting insulins | 877 | ||
| Continuous subcutaneous insulin infusion | 878 | ||
| Impact of Continuous Subcutaneous Insulin Infusion on Glycemic Control | 879 | ||
| Impact of Continuous Subcutaneous Insulin Infusion on the Frequency of Acute Complications | 879 | ||
| Impact of Continuous Subcutaneous Insulin Infusion on Quality of Life | 879 | ||
| Continuous monitoring systems and closed-loop therapy | 880 | ||
| Continuous Glucose Monitoring Systems | 880 | ||
| Sensor-Augmented Pump Therapy with Low Glucose Insulin Suspension | 881 | ||
| Closed-Loop Insulin-Delivery Systems | 881 | ||
| Summary | 882 | ||
| References | 883 | ||
| Long-term Outcomes in Youths with Diabetes Mellitus | 889 | ||
| Key points | 889 | ||
| Overview of diabetes-related complications | 891 | ||
| Short-term complications of type 1 diabetes | 891 | ||
| Long-term complications of type 1 diabetes | 892 | ||
| Overview | 892 | ||
| Screening for diabetes complications in youths | 894 | ||
| Comparison of outcomes in the pre– and post–diabetes control and complications trial eras | 894 | ||
| Retinopathy | 895 | ||
| Microalbuminuria | 897 | ||
| Neuropathy | 898 | ||
| Cardiovascular Disease Risk Factors | 898 | ||
| Complications in youths with type 2 diabetes mellitus | 899 | ||
| The brain and cognitive effects of diabetes | 901 | ||
| References | 902 | ||
| The Impact of Diabetes on Brain Function in Childhood and Adolescence | 911 | ||
| Key points | 911 | ||
| Introduction | 911 | ||
| The evidence for type 1 diabetes–related brain injury | 912 | ||
| Early Childhood | 912 | ||
| Mid Childhood | 912 | ||
| Adolescence and Early Adulthood | 913 | ||
| Educational and Functional Outcomes | 913 | ||
| Mental Health | 913 | ||
| Adulthood | 914 | ||
| Mechanisms of injury | 914 | ||
| Hypoglycemia | 916 | ||
| Hyperglycemia and Ketoacidosis | 916 | ||
| Glycemic Variation | 920 | ||
| Implications for management of type 1 diabetes | 921 | ||
| Summary | 921 | ||
| References | 922 | ||
| Interpreting Minor Variations in Thyroid Function or Echostructure | 929 | ||
| Key points | 929 | ||
| Minor variations in thyroid function | 929 | ||
| Introduction | 929 | ||
| Isolated Hyperthyrotropinemia | 930 | ||
| Isolated Hypothyroxinemia | 932 | ||
| Nonthyroidal Illnesses | 932 | ||
| Disorders of Thyroid Hormone Metabolism or Transport into the Cells | 933 | ||
| Isolated Serum Thyrotropin Suppression (with Normal or Low Serum Free Thyroxine Level) | 933 | ||
| Subclinical Hypothyroidism | 933 | ||
| Subclinical Hyperthyroidism | 934 | ||
| Iatrogenic | 934 | ||
| Neonates born to mothers with Graves disease | 934 | ||
| Hyperfunctioning thyroid nodules | 934 | ||
| Interference from Cardiovascular, Antiepileptic, and Psychotropic Medications | 935 | ||
| Minor variations in thyroid echostructure | 935 | ||
| Nonpalpable < 1cm Cysts and Nodules | 935 | ||
| Hashimoto Thyroiditis | 936 | ||
| The Single Thyroid Nodule | 937 | ||
| Multinodular Goiter | 938 | ||
| Hemiagenesis | 938 | ||
| Summary | 938 | ||
| References | 939 | ||
| Disorders of Menstruation in Adolescent Girls | 943 | ||
| Key points | 943 | ||
| Introduction | 943 | ||
| The common presenting complaints | 946 | ||
| What is normal, and the maturation of the hypothalamic-pituitary-ovarian axis | 947 | ||
| Menstrual Cramps (Dysmenorrhea) | 947 | ||
| Interpreting and Using the Figures | 948 | ||
| Abnormal uterine bleeding: the generic assessment | 948 | ||
| History: Key Features | 948 | ||
| Physical Examination | 949 | ||
| Physical Examination: Key Features | 949 | ||
| Investigations and Diagnostic Tools | 949 | ||
| Investigations and Diagnostic Tools to Consider | 949 | ||
| Treatment (in General) | 950 | ||
| Treatment Options (in General) | 950 | ||
| Abnormal uterine bleeding: causes worthy of particular mention | 951 | ||
| Functional Hypothalamic Amenorrhea (and Disordered Menstruation) | 951 | ||
| Clues on history corroborating functional/hypothalamic disorder | 952 | ||
| Clues on physical examination corroborating functional/hypothalamic disorder | 953 | ||
| Clues from investigations that corroborate functional/hypothalamic disorder | 953 | ||
| Management of functional/hypothalamic amenorrhea | 953 | ||
| Polycystic Ovarian Syndrome | 954 | ||
| Clues on history that corroborate polycystic ovarian syndrome | 954 | ||
| Clues on physical examination that corroborate polycystic ovarian syndrome | 955 | ||
| Clues from investigations that corroborate polycystic ovarian syndrome, and investigations to consider | 955 | ||
| Comment | 955 | ||
| Management of polycystic ovarian syndrome | 955 | ||
| Polycystic ovarian syndrome, combined contraceptives and venous thromboembolism in adolescents | 956 | ||
| Dysmenorrhea (Menstrual Cramps) | 956 | ||
| Caution | 956 | ||
| Inherited Bleeding Disorder | 957 | ||
| Investigations to be considered (in addition to those listed earlier) | 958 | ||
| Pregnancy | 958 | ||
| Summary | 958 | ||
| References | 958 | ||
| Short Stature | 963 | ||
| Key points | 963 | ||
| Introduction | 963 | ||
| Cases and Clinical Management Considerations | 964 | ||
| Case 1 | 964 | ||
| Case 2 | 964 | ||
| Case 3 | 964 | ||
| Is short stature an impediment to psychosocial adjustment? | 965 | ||
| Beliefs, Stereotypes, and Assumptions | 965 | ||
| Evidence | 965 | ||
| Teasing and Juvenilization | 965 | ||
| Psychosocial Stress and Adaptation | 966 | ||
| Educational Achievement | 968 | ||
| Adult Educational Attainment and Economic Status | 968 | ||
| Adult Height and Quality of Life | 969 | ||
| Does changing height matter? | 970 | ||
| Beliefs, Stereotypes, and Assumptions | 970 | ||
| Evidence | 971 | ||
| Physiologic response: height gain attributable to recombinant human growth hormone | 971 | ||
| Psychosocial consequences of increased growth velocity and height induced by recombinant human growth hormone therapy | 972 | ||
| Factors accounting for inconsistencies in reports of the psychological effects of recombinant human growth hormone | 972 | ||
| Risks/ethical issues associated with recombinant human growth hormone treatment to increase adult height in non-growth horm ... | 973 | ||
| Why do beliefs and stereotypes persist despite contradictory evidence? | 974 | ||
| The Focusing Illusion | 975 | ||
| Height as a Proxy for Health | 975 | ||
| Summary and recommendations | 976 | ||
| References | 977 | ||
| Approach to the Infant with a Suspected Disorder of Sex Development | 983 | ||
| Key points | 983 | ||
| Introduction | 983 | ||
| Sexual differentiation | 983 | ||
| Nomenclature | 985 | ||
| Care of the infant | 985 | ||
| History | 985 | ||
| Physical examination | 987 | ||
| Investigations | 987 | ||
| Which Infants Need Investigation? | 987 | ||
| Initial Investigations | 988 | ||
| Secondary Investigations | 991 | ||
| Assessment of adrenal function | 991 | ||
| Assessment of testicular function | 991 | ||
| Assessment of internal anatomy | 991 | ||
| Genetic testing | 991 | ||
| Interpretation of results | 991 | ||
| 46XY Disorders of Sex Development | 991 | ||
| Low testosterone and low precursors (dehydroepiandrosterone sulfate, androstenedione) | 991 | ||
| Disorders of gonadal development | 991 | ||
| Defects in androgen production | 992 | ||
| Luteinizing hormone receptor defects (Leydig cell hypoplasia) | 992 | ||
| Hypogonadotrophic hypogonadism | 992 | ||
| Low testosterone and elevated precursors | 992 | ||
| Normal/Increased testosterone and normal precursors and low dihydrotestosterone | 992 | ||
| Normal/Increased testosterone, precursors, and dihydrotestosterone | 992 | ||
| 46XX disorders of sex development | 994 | ||
| Androgen Excess | 994 | ||
| Congenital adrenal hyperplasia | 994 | ||
| Maternal/Fetoplacental causes | 994 | ||
| Gonadal causes | 994 | ||
| Sex chromosome disorders of sex development | 994 | ||
| Sex of rearing decisions | 995 | ||
| Normal variants that can seem to be a disorder of sex development | 995 | ||
| Current controversies | 995 | ||
| Psychosocial care and communication with the parents and family | 996 | ||
| Summary | 997 | ||
| References | 997 | ||
| Gender Variance and Dysphoria in Children and Adolescents | 1001 | ||
| Key points | 1001 | ||
| Terminology | 1002 | ||
| Biological/Anatomic Sex | 1002 | ||
| Cisgender | 1002 | ||
| Gender Dysphoria | 1002 | ||
| Gender Identity (or Affirmed Gender) | 1002 | ||
| Gender Nonconforming | 1002 | ||
| Gender Role or Expression | 1002 | ||
| Gender Variance | 1003 | ||
| Female-to-Male | 1003 | ||
| Male-to-Female | 1003 | ||
| Transgender | 1003 | ||
| Transitioning | 1003 | ||
| Sexual Orientation | 1003 | ||
| Epidemiology | 1003 | ||
| Gender identity development | 1004 | ||
| Issues faced by gender variant and transgender youth and their families | 1004 | ||
| Evolving approach to prepubertal gender variant children | 1005 | ||
| Approach to pubertal youth | 1006 | ||
| Puberty suppression | 1007 | ||
| Puberty-suppressing medications | 1007 | ||
| Timing of puberty suppression | 1007 | ||
| Monitoring and side effects | 1008 | ||
| Physiologic and medical outcomes | 1009 | ||
| Psychological and mental health outcomes | 1009 | ||
| Cross-sex hormones | 1010 | ||
| Evaluating readiness | 1011 | ||
| Medical evaluation | 1011 | ||
| Timing of cross-sex hormones | 1012 | ||
| Side effects of cross-sex hormones | 1013 | ||
| Progesterone | 1013 | ||
| Cross-sex hormones and gender-affirming surgery | 1014 | ||
| Summary | 1014 | ||
| References | 1014 | ||
| Hyperinsulinemic Hypoglycemia | 1017 | ||
| Key points | 1017 | ||
| Introduction | 1017 | ||
| Definition of hypoglycemia | 1018 | ||
| Metabolic and endocrine changes in glucose physiology at the time of birth | 1019 | ||
| Mechanisms of insulin secretion | 1020 | ||
| Types of hyperinsulinemic hypoglycemia | 1020 | ||
| Transient Hyperinsulinism | 1020 | ||
| Persistent (Congenital) Forms of Hyperinsulinemic Hypoglycemia | 1020 | ||
| Defects in the KATP channel: mutations in the ABCC8 and KCNJ11 genes | 1021 | ||
| Mutations in GLUD1 | 1022 | ||
| Mutations in 3-hydroxyacyl-coenzyme A dehydrogenase | 1022 | ||
| Mutations in glucokinase | 1022 | ||
| Mutations in HNF4A and HNF1A | 1023 | ||
| Mutations in solute carrier family 16, member 1 | 1023 | ||
| Mutations in the uncoupling protein 2 gene | 1023 | ||
| Syndromes Associated with Hyperinsulinemic Hypoglycemia | 1023 | ||
| Postprandial Hyperinsulinemic Hypoglycemia | 1024 | ||
| Insulinoma | 1024 | ||
| Munchausen Syndrome by Proxy | 1025 | ||
| Histological Forms | 1025 | ||
| Clinical characteristics | 1025 | ||
| Biochemical features | 1026 | ||
| Importance of genetic testing for congenital hyperinsulinemic hypoglycemia | 1027 | ||
| Role of the 18F-l-3,4-dihydroxyphenylalanine-PET/computed tomography in the management of congenital hyperinsulinemic hypog ... | 1027 | ||
| Treatment | 1028 | ||
| Diazoxide | 1028 | ||
| Somatostatin Analogs | 1030 | ||
| Glucagon | 1030 | ||
| Calcium Channel Blockers | 1030 | ||
| Glucagon-Like Peptide-1 Receptor Antagonist | 1030 | ||
| Mammalian Target of Rapamycin Inhibitors | 1030 | ||
| The Role of Surgery for Congenital Hyperinsulinemic Hypoglycemia | 1031 | ||
| Summary | 1031 | ||
| References | 1031 | ||
| Genome, Exome, and Targeted Next-Generation Sequencing in Neonatal Diabetes | 1037 | ||
| Key points | 1037 | ||
| Introduction to neonatal diabetes | 1037 | ||
| Introduction to next-generation sequencing | 1039 | ||
| Targeted next-generation sequencing | 1043 | ||
| Method | 1043 | ||
| Targeted Next-Generation Sequencing in Neonatal Diabetes | 1043 | ||
| Exome sequencing | 1045 | ||
| Method | 1045 | ||
| Exome Sequencing in Neonatal Diabetes | 1045 | ||
| Identification of mutations in GATA6 as the most common cause of pancreatic agenesis | 1045 | ||
| Identification of activating STAT3 mutations as a cause of early onset multiorgan autoimmune disease | 1046 | ||
| Genome sequencing | 1047 | ||
| Method | 1047 | ||
| Genome Sequencing in Neonatal Diabetes | 1047 | ||
| Concluding remarks | 1048 | ||
| Impact of Next-Generation Sequencing in Diagnosis of Neonatal Diabetes | 1048 | ||
| Impact of Next-Generation Sequencing for Identification of Novel Causes of Neonatal Diabetes | 1048 | ||
| Acknowledgments | 1049 | ||
| References | 1049 | ||
| Index | 1055 |