Pediatric Endocrinology Mechanisms and Management

Contributing Authors ix
Preface xiii
Acknowledgments xv
Section I Genetics in Endocrinology
1 Genetic Disorders in Pediatric Endocrinology 1
2 Genetic Syndromes with Endocrinopathies 24
Section II Evaluation of Endocrine Disorders in Children
3 Diagnostic Imaging in Pediatric Endocrinology 35
4 Molecular Concepts and Techniques in Endocrinology 52
Section III Hypothalamus and Pituitary
5 Molecular Genetics of Hypothalamic-Pituitary Axis Development
63
6 Consequences of Mutations in Pituitary Transcription Factor
Genes 80
7 Clinical Disorders of the Posterior Pituitary 90
8 Endocrine Issues in Survivors of Childhood Cancer 108
Section IV Growth
9 Biologic and Clinical Aspects of Molecular Defects along the
Growth Hormone-Insulin-Like Growth Factor I Axis 123
10 Physiology of the Growth Hormone-Insulin-Like Growth Factor
Axis 151
11 Clinical Aspects of Growth and Growth Disorders 172
12 Short Stature and Quality of Life: A Review of Assumptions
and Evidence 191
13 Turner Syndrome 203
14 Endocrinopathies in Infants Who Are Small for Gestational Age
224
Section V Sexual Differentiation and Maturation
15 Molecular Genetic Control of Sex Differentiation 231
16 Disorders of Sexual Differentiation 243
17 Diagnosis and Treatment of the Undescended Testicle 255
18 Androgens and Behavior: Implications for the Treatment of
Children with Disorders of Sexual Differentiation 275
19 Control of the Onset of Puberty 285
20 Growth Hormone, Sex Steroids, and Insulin-Like Growth Factor
I: Metabolic Effects in Puberty and Beyond 299
21 Precocious Puberty 316
22 Delayed Puberty
23 Gynecomastia
24 Hyperandrogenism in Children and Adolescents
25 Endocrine Disrupters and Development of the Reproductive
System: A Pediatric Perspective
Section VI Glucose Homeostasis
26 Hypoglycemia in Infants and Children
27 Genetics of Type 1 Diabetes
28 Pathophysiology of Insulin-Dependent Diabetes
29 Management of Type 1 Diabetes Mellitus
30 Type 2 Diabetes Mellitus in Children and Adolescents
31 Cystic Fibrosis-Related Diabetes
Section VII Thyroid
32 Molecular Mechanisms of Normal and Abnormal Thyroid Gland
Development
33 Congenital Hypothyroidism
34 Hypothyroidism and Hyperthyroidism in Children
35 Thyroid Nodules and Thyroid Cancer in Children and
Adolescents
Section VIII Adrenal
36 Molecular Development of the Adrenal Gland
37 Clinical Adrenal Disorders
38 Congenital Adrenal Hyperplasia
Section IX Bone and Mineral Metabolism
39 Disorders of Mineral Metabolism
40 Hereditary Defects in Vitamin D Metabolism and Function
41 Rickets Associated with Hypophosphatemia
42 Pediatric Bone Disorders
Section X Abnormalities of Nutrition
43 Childhood Obesity
44 Adipose Tissue Function and the Genetics of Obesity
45 Eating Disorders: Identification, Evaluation, and Treatment
of Associated Endocrine Abnormalities
Section XI Systemic Endocrinology
46 Syndromes with Multiple Endocrine Abnormalities
47 Endocrine Aspects of Stress
Appendices
A. Laboratory Testing in Pediatric Endocrinology 775
B. Normative Laboratory Results
Index