Sperling Pediatric Endocrinology

1. Introduction - p. page_30 2. Basic principles of receptor action - p. page_31 3. G protein–coupled receptors - p. page_31 4. Class A receptors that transduce hormone action - p. page_36 5. Class B receptors that transduce hormone action - p. page_44 6. Class C receptors that transduce hormone action - p. page_45 7. G protein gene disorders - p. page_47 8. Cytokine receptors - p. page_48 9. Leptin receptors - p. page_49 10. Receptor tyrosine kinases - p. page_50 11. Insulin receptor tyrosine kinase family - p. page_50 12. The insulin receptor - p. page_51 13. The insulin-like growth factor-1 receptor - p. page_52 14. The fibroblast growth factor receptor family - p. page_52 15. Nuclear receptors - p. page_53 16. Subfamily 1 nuclear receptors: thyroid hormone, vitamin d3, and peroxisome proliferator–activated receptors - p. page_54 17. Subfamily 2 nuclear receptors: hepatocyte nuclear factor and retinoid x receptors - p. page_58 18. Subfamily 3 nuclear receptors: the steroid receptors and glucocorticoid, androgen, estrogen, and mineralocorticoid receptors - p. page_58 19. Subfamily 0 nuclear receptors: dax1 - p. page_60 20. Summary - p. page_61 21. 4: Endocrinology Laboratory Testing - p. page_86 22. Section II: Endocrine Disorders in the Neonate - p. page_105 23. 5: Fetal-Maternal Endocrinology and Parturition - p. page_106 24. 6: Ambiguous Genitalia - p. page_123 25. Abstract - p. page_123 26. Introduction - p. page_124 27. Talking with the parents - p. page_124 28. Terminology - p. page_125 29. Sex determination - p. page_126 30. Development of the reproductive system - p. page_126 31. Mouse models - p. page_130 32. Sex chromosome disorders - p. page_131 33. Disorders associated with disorders of sex development and additional congenital anomalies (Table 6.2) - p. page_131 34. Disorders associated with 46,XX disorders of sex development and 46,XY disorders of sex development (Table 6.3) - p. page_136 35. Nonsyndromic 46,XY disorders of sex development (Gonadal dysgenesis) (see Table 6.3) - p. page_137 36. Ovotesticular disorder of sex development - p. page_139 37. Nonsyndromic XX disorders of sex development (Table 6.4) - p. page_139 38. XX Disorder of sex development/Premature ovarian failure - p. page_139 39. Vanishing testes - p. page_141 40. Disorders of cholesterol and steroid biosynthesis - p. page_141 41. Side chain cleavage cytochrome P450 enzyme - p. page_144 42. Virilizing congenital adrenal hyperplasias - p. page_144 43. Defects in sex steroid biosynthesis - p. page_146 44. Maternal hyperandrogenism - p. page_148 45. Disorders of androgen action - p. page_148 46. Mullerian duct abnormalities - p. page_149 47. Microphallus, hypospadias, and cryptorchidism - p. page_149 48. Environmental disruptors - p. page_152 49. Other disorders - p. page_152 50. Exstrophy of bladder - p. page_152 51. Diagnosis - p. page_152 52. Treatment - p. page_158 53. Conclusions - p. page_162 54. 7: Hypoglycemia in the Newborn and Infant - p. page_175 55. 8: Disorders of the Thyroid in the Newborn and Infant - p. page_202 56. 9: Disorders of Mineral Metabolism: Normal Homeostasis - p. page_220 57. Abstract - p. page_220 58. Calcium - p. page_220 59. Phosphate - p. page_230 60. Magnesium - p. page_232 61. Alkaline phosphatase - p. page_233 62. Parathyroid hormone; parathyroid hormone-related protein; PTH/PTHRP receptors - p. page_234 63. Calcitonin - p. page_238 64. Vitamin D - p. page_239 65. Skeleton: cartilage and bone - p. page_245 66. 10: Monogenic Diabetes Mellitus: Neonatal Diabetes and Maturity-Onset Diabetes of the Young - p. page_279 67. Section III: Childhood and Adolescent Endocrinology - p. page_298 68. 11: Disorders of Childhood Growth - p. page_299 69. 12: Disorders of the Posterior Pituitary - p. page_357 70. 13: Thyroid Disorders in Children and Adolescents - p. page_395 71. 14: The Adrenal Cortex and Its Disorders - p. page_425 72. Abstract - p. page_425 73. History, embryology, and anatomy - p. page_425 74. Steroid hormone synthesis - p. page_428 75. Regulation of steroidogenesis - p. page_434 76. Plasma steroids and their disposal - p. page_437 77. Clinical and laboratory evaluation of adrenal function - p. page_440 78. Genetic lesions in steroidogenesis - p. page_446 79. Adrenal insufficiency - p. page_460 80. Adrenal excess - p. page_467 81. Glucocorticoid therapy and withdrawal - p. page_473 82. Concluding remarks - p. page_477 83. 15: Pheochromocytoma/Paraganglioma, Medullary Thyroid Carcinoma, and Hereditary Endocrine Neoplasia Syndromes - p. page_491 84. 16: Puberty in the Female and Its Disorders - p. page_528 85. Abstract - p. page_528 86. Development of the female reproductive system - p. page_528 87. Normal hormonal and sexual developmental stages - p. page_557 88. Abnormal puberty - p. page_564 89. Future directions - p. page_600 90. 17: Turner Syndrome - p. page_627 91. 18: Puberty and Its Disorders in the Male - p. page_661 92. 19: Care of Transgender/Gender Nonconforming Youth - p. page_695 93. 20: Disorders of Mineral Metabolism II. Abnormalities of Mineral Homeostasis in the Newborn, Infant, Child, and Adolescent - p. page_705 94. Abstract - p. page_705 95. Acknowledgment - p. page_705 96. Hypocalcemia - p. page_705 97. Hypercalcemia - p. page_728 98. Disorders of magnesium metabolism - p. page_744 99. Disorders of bone - p. page_747 100. Osteochondrodysplasias - p. page_795 101. Concluding remarks - p. page_801 102. 21: Diabetes Mellitus - p. page_814 103. Abstract - p. page_814 104. Introduction - p. page_814 105. Classification - p. page_815 106. Type 1 diabetes mellitus - p. page_817 107. Diabetic ketoacidosis pathophysiology and treatment - p. page_831 108. Treatment of type 1 diabetes mellitus - p. page_840 109. Insulin regimens - p. page_843 110. Automated insulin delivery—Closed-Loop (Artificial pancreas) - p. page_849 111. The emerging digital world of diabetes - p. page_850 112. Living with Diabetes - p. page_851 113. Complications of diabetes - p. page_856 114. Type 2 diabetes mellitus - p. page_860 115. Genetic defects of beta cell function - p. page_861 116. Genetic defects in insulin action - p. page_864 117. Acquired defects in insulin action - p. page_865 118. Genetic syndromes with diabetes and insulin resistance or insulin deficiency - p. page_865 119. Concluding remarks - p. page_866 120. 22: Autoimmune Polyglandular Syndromes - p. page_884 121. 23: Hypoglycemia in the Toddler and Child - p. page_904 122. 24: Obesity, Metabolic Syndrome and Disorders of Energy Balance - p. page_939 123. Abstract - p. page_939 124. Introduction - p. page_939 125. Energy balance - p. page_939 126. Homeostatic system for energy balance - p. page_941 127. Non-homeostatic regulation of energy balance - p. page_947 128. Dysregulation of energy balance - p. page_947 129. Energy excess—obesity - p. page_949 130. Metabolic impact of childhood obesity - p. page_952 131. Factors associated with the current epidemic of obesity - p. page_958 132. Disorders of obesity - p. page_964 133. Evaluation and treatment of pediatric obesity - p. page_971 134. Energy inadequacy - p. page_977 135. Conclusions - p. page_982 136. Abbreviations - p. page_983 137. 25: Lipid Disorders in Children and Adolescents - p. page_1004 138. Index - p. page_1022