Sperling Pediatric Endocrinology [5th Edition] 0323625207, 9780323625203, 9780323625227, 9780323625210

Table of contents :
Front Cover......Page 1
Inside Front cover......Page 2
Sperling Pediatric Endocrinology......Page 5
Copyright......Page 6
Dedication......Page 7
Foreword to the First Edition......Page 8
Preface to the 5th edition......Page 9
Acknowledgments......Page 10
Contributors......Page 11
Contents......Page 15
Historical background......Page 17
Impact of hormonal assays and molecular biology......Page 18
Acquisition of Patterns of Hormone Secretion and Action......Page 20
Gonadotropins and Sex Hormones......Page 21
References......Page 22
Isolation and Digestion of DNA and Southern Blotting......Page 25
Polymerase Chain Reaction......Page 26
RNA Analysis......Page 28
Direct Methods......Page 31
CRISPR-Cas9 system......Page 35
The Principles of Positional Genetics......Page 36
Impact of Modern Sequencing in Clinical Practice......Page 37
Future Developments......Page 38
Principles of interpretation of genetic tests in the diagnosis and management of pediatric endocrine diseases......Page 39
Genetics in clinical practice and next-generation sequencing applications......Page 40
NGS and Cell-Free DNA in Cancer Medicine and Prenatal Testing......Page 41
Precision medicine......Page 42
Recombinant DNA technology and therapy of pediatric endocrine diseases......Page 43
References......Page 44
Introduction......Page 46
G protein-coupled receptors......Page 47
Adrenocorticotropin and Melanocortin-2 Receptors......Page 52
Other Melanocortin Receptors......Page 53
Luteinizing Hormone/Choriogonadotropin Receptors......Page 54
Follicle-Stimulating Hormone Receptors......Page 55
Thyroid-Stimulating Hormone Receptors......Page 56
Gonadotropin-Releasing Hormone Receptors......Page 57
KISS1 Receptor/GPR54......Page 58
Ghrelin Receptors......Page 59
Gastric Inhibitory Polypeptide Receptors......Page 60
Calcium-Sensing Receptors......Page 61
Activating Mutations of the GNAS Gene......Page 63
Growth Hormone Receptors......Page 64
Leptin receptors......Page 65
Insulin receptor tyrosine kinase family......Page 66
The insulin receptor......Page 67
The fibroblast growth factor receptor family......Page 68
Nuclear receptors......Page 69
Thyroid Hormone Receptors......Page 70
Vitamin D Receptor......Page 73
Glucocorticoid Receptors......Page 74
Estrogen Receptors......Page 75
DAX1......Page 76
References......Page 77
Learning to speak (some of) the language of the laboratory......Page 102
Laboratory statistics: the basics of evidence-based diagnosis......Page 103
Precision......Page 105
Sample Types and Matrix Effects......Page 106
Competitive Immunoassay versus Immunometric (Sandwich) Assay......Page 107
Free Hormone Assays......Page 108
Mass Spectrometry......Page 110
What can go wrong? errors, interference, and the like......Page 114
Potential Confounders in Immunoassays......Page 115
Standardization/harmonization: clinically relevant and crucial......Page 116
Reference intervals......Page 117
References......Page 120
Evolution of Human Pregnancy and Birth......Page 122
Establishment of Pregnancy......Page 123
Prolactin-Growth Hormone Family......Page 124
Transforming Growth Factor-ß Family......Page 125
Fetal Neuroendocrine Development......Page 126
Integrative Steroidogenesis During Pregnancy: Fetal Adrenal-Placental Crosstalk......Page 127
Fetal Maturation and Parturition......Page 129
The Hormonal Control of Human Parturition......Page 130
Genetic and Genomic Approaches to Reveal Novel Endocrine Pathways Related to Birth Timing......Page 132
Mendelian randomization and causative pathways......Page 133
References......Page 134
Chapter 6: Ambiguous Genitalia......Page 139
Talking with the parents......Page 140
Terminology......Page 141
Urogenital Ridge and Bipotential Gonad Development......Page 142
Human Testicular Development......Page 143
Germ Cell Development......Page 144
Development of Internal Genital Structures......Page 145
Mouse models......Page 146
CDKN1C (IMAGe Syndrome)......Page 147
HOXA13 (Hand-Foot-Genital Syndrome)......Page 149
SOX9......Page 150
XH2 (ATRX Syndrome)......Page 151
SF1/NR5A1 Gene......Page 152
Mitogen-Activated Kinase Kinase Kinase 1 (MAP3K1)......Page 153
WW Domain-Containing Oxidoreductase (WWOX)......Page 154
XX Disorder of sex development/Premature ovarian failure......Page 155
Disorders of cholesterol and steroid biosynthesis......Page 157
Luteinizing Hormone Choriogonadotropin Receptor Gene......Page 159
21-Hydroxylase Deficiency......Page 160
3α-Hydroxysteroid Dehydrogenase Isozyme Deficiencies......Page 162
Placental Aromatase Deficiency......Page 163
Disorders of androgen action......Page 164
Cryptorchidism......Page 165
Hypogonadotropic Hypogonadism......Page 167
Diagnosis......Page 168
Physical Examination......Page 169
Laboratory Studies......Page 170
Hormone Determinations......Page 171
Imaging, Endoscopy, and Laparoscopy......Page 173
Sex of Rearing......Page 174
Medical Treatment......Page 175
Considerations With Regard to Surgery......Page 176
Psychological and Genetic Counseling and Support and Ethical Considerations......Page 177
References......Page 178
Principles of glucose metabolism......Page 191
Changes at Birth: Transition Phase......Page 192
Management of Hypoglycemia in the First 24 to 48 Hours......Page 193
Hormonal and metabolic systems of fasting adaptation......Page 194
Definition hypoglycemia in neonates and infants......Page 196
Hypoglycemic Brain Damage......Page 197
Diagnostic approach......Page 198
Hyperinsulinism and Similar Disorders......Page 199
Monogenic Hyperinsulinism......Page 200
KATP Hyperinsulinism......Page 201
Focal KATP-Hyperinsulinism (Focal Adenomatosis)......Page 202
Glutamate Dehydrogenase-Hyperinsulinism: The Hyperinsulinism Hyperammonemia Syndrome......Page 203
Glucokinase-Hyperinsulinism......Page 204
Hyperinsulinism in Beckwith-Wiedemann Syndrome.......Page 205
Management and Treatment of Hyperinsulinism......Page 206
Acquired Postprandial Hyperinsulinemic Hypoglycemia after Fundoplication......Page 207
Defects in Glycogenolysis and Gluconeogenesis......Page 208
Glucose 6-Phosphatase Deficiency (GSD Type 1)......Page 209
Disorders of Fatty Acid Oxidation: Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency......Page 210
GLUT2 Deficiency......Page 211
References......Page 212
The Thyroid......Page 218
Maternofetal Transfers and Their Clinical Consequences (Fig. 8.1)......Page 219
Maturation of Thyroid Hormone Synthesis and Secretion (Figs. 8.3 and 8.4)......Page 220
Maturation of Thyroid Hormone Metabolism (Fig. 8.5)......Page 222
Perinatal Changes in Thyroid Function......Page 223
Thyroid Dysgenesis......Page 224
Thyroid-Stimulating Hormone Receptor Mutations......Page 225
General Features......Page 226
Dehalogenase Defects......Page 227
Defects in Thyroid Hormone Signaling Pathways......Page 228
Evaluation of Infants With a Positive Newborn Screening Test......Page 229
Graves Disease......Page 230
References......Page 231
Calcium......Page 236
Phosphate......Page 246
Phosphatonins......Page 247
Magnesium......Page 248
Alkaline phosphatase......Page 249
Parathyroid Hormone......Page 250
Parathyroid Hormone-Related Protein......Page 252
Parathyroid Hormone/Parathyroid Hormone-Related Protein Receptors......Page 253
Calcitonin......Page 254
Synthesis and Biological Activity of Vitamin D......Page 255
Vitamin D Receptor......Page 258
Chondrogenesis and Skeletal Formation......Page 261
Osteoblastogenesis......Page 264
Osteoclastogenesis......Page 268
Bone Extracellular Matrix......Page 272
Bone Formation and Mineralization......Page 275
Hormonal Regulation of Bone Mineralization......Page 279
Assessment of Bone Quality, Mass, and Strength......Page 281
References......Page 288
Definition......Page 295
Clinical presentation......Page 296
6q24-Related Transient Neonatal Diabetes Mellitus (TNDM1)......Page 298
KATP Channel-Related Transient Neonatal Diabetes Mellitus (TNDM2)......Page 299
KATP Mutations: KCNJ11 and ABCC8......Page 301
Pancreatic Duodenal Homeobox 1......Page 302
RFX6: Mitchell-Riley Syndrome With Biliary and Intestinal Atresia......Page 303
Diagnosis and treatment of neonatal diabetes mellitus......Page 304
Monogenic causes of diabetes of adolescence/young adulthood: maturity-onset diabetes of the young......Page 305
HNF1A/HNF4A: Transcription Factor Maturity-Onset Diabetes of the Young (MODY3/MODY1)......Page 306
HNF1B: Maturity-Onset Diabetes of the Young With Renal Cysts (MODY5-RCAD)......Page 307
SLC19A: Thiamine-Responsive Megaloblastic Anemia and Diabetes (Rogers Syndrome)......Page 308
Future directions......Page 309
References......Page 310
Regulation of Linear Growth......Page 315
The Pituitary Gland......Page 316
Growth Hormone Secretion......Page 320
Growth Hormone Actions......Page 321
Insulin-Like Growth Factor Receptors......Page 322
Estrogens......Page 323
Insulin-like Growth Factors......Page 324
Catch-Up Growth......Page 325
Measurement......Page 326
Body Proportions......Page 327
Prediction of Adult Height......Page 329
Nutritional Deficiencies......Page 330
Growth Hormone Deficiency......Page 331
Congenital disorders of hypothalamic development......Page 333
Inflammation and infiltration of the brain and/or hypothalamus......Page 334
Cystic lesions......Page 335
Genetic abnormalities resulting in combined pituitary hormone deficiency......Page 336
Genetic abnormalities of GH production and/or secretion resulting in isolated GH deficiency......Page 337
Tumors involving the pituitary......Page 338
Growth hormone insensitivity......Page 339
Defects in the Proteolytic Cleavage of IGFBPs (PAPPA2 Gene)......Page 340
RTHbeta......Page 341
Inflammatory Disorders......Page 342
Disorders Involving Autocrine/Paracrine Factors......Page 343
Disorders Involving Cartilage Extracellular Matrix......Page 344
Noonan Syndrome and the RASopathies......Page 345
3-M Syndrome......Page 346
Prader-Willi Syndrome......Page 347
Idiopathic Short Stature of Postnatal Onset, Including Constitutional Delay......Page 348
Time Course......Page 349
Anthropometrics......Page 350
Measurement of Insulin-Like Growth Factor-1 Concentrations in Growth Disorders......Page 351
Follow-Up Laboratories and Imaging......Page 352
Genetic Testing......Page 353
Benefits......Page 355
Potential Adverse Effects......Page 356
Insulin-like Growth Factor-1......Page 357
Tall Stature......Page 358
McCune-Albright Syndrome......Page 359
Disorders Involving Intracellular Factors......Page 360
Diagnostic Approach to the Patient With Tall Stature......Page 361
Treatment for Nonendocrine Tall Stature......Page 362
References......Page 363
Vasopressin and Oxytocin Biochemistry......Page 373
Osmotic Regulation......Page 375
Nonosmotic Regulation......Page 377
Vasopressin Receptors......Page 378
Renal Cascade of Vasopressin Function......Page 379
Renin-Angiotensin-Aldosterone System......Page 380
Regulation of Secretion......Page 381
Anatomy and Biochemistry......Page 382
Regulation of Secretion and Action......Page 383
Polyuria, Polydipsia, and Hypernatremia (Fig. 12.13)......Page 384
Decreased Renal Free Water Clearance......Page 387
Systemic Dehydration......Page 388
Treatment......Page 389
Causes of SIAD......Page 390
Hyponatremia With Inappropriate Decreased Secretion of Vasopressin, Caused by Increased Secretion of Atrial Natriuretic Peptide......Page 391
Genetic Causes......Page 392
Infiltrative, Autoimmune, and Infectious Diseases......Page 393
Fluid Therapy......Page 394
Vasopressin and Vasopressin Analogs......Page 395
Adipsic Hypernatremia......Page 396
Acquired Causes......Page 397
Treatment of Nephrogenic Diabetes Insipidus......Page 398
References......Page 399
Thyroid Hormones and Their Action......Page 411
Clinical Evaluation of the Thyroid......Page 413
Biochemical Evaluation of Thyroid Function......Page 414
Hashitoxicosis......Page 416
Iodine-Induced Hypothyroidism......Page 417
Thyroid hormone resistance......Page 418
Antithyroid Drug Therapy......Page 419
Strategies for the Child With an Adverse Event to Methimazole......Page 420
Risks of Radioactive Iodine in Children Treated for Graves Disease......Page 421
Neonatal thyrotoxicosis......Page 422
Subacute Thyroiditis......Page 423
Evaluation of a Thyroid Nodule......Page 424
Differentiated Thyroid Cancer......Page 425
Etiology of Differentiated Thyroid Cancer......Page 426
Surgical Management......Page 427
Radioactive Iodine Therapy......Page 429
Follow-Up......Page 430
Medullary Thyroid Cancer......Page 431
References......Page 432
History......Page 441
Embryology......Page 442
Anatomy......Page 443
Transport of Electrons to P450scc: Ferredoxin Reductase and Ferredoxin......Page 444
Electron Transport to P450c17: P450 Oxidoreductase and Cytochrome b5......Page 446
17β-Hydroxysteroid Dehydrogenase......Page 447
11β-Hydroxysteroid Dehydrogenases......Page 448
Fetal Adrenal Steroidogenesis......Page 449
Hypothalamus: Corticotropin-Releasing Factor and Arginine Vasopressin......Page 450
Actions of Adrenocorticotropic Hormone......Page 451
Mineralocorticoid Secretion: The Renin-Angiotensin System......Page 452
Structure and Nomenclature......Page 453
Circulating Steroids......Page 454
Examples of Disorders That Alter Steroid Metabolism......Page 455
Measurement Techniques......Page 456
Plasma Renin......Page 457
Stimulation Tests......Page 460
Wolman Disease and Cholesteryl Ester Storage Disease......Page 462
Niemann-Pick Type C Disease......Page 463
Congenital Lipoid Adrenal Hyperplasia......Page 464
3β-Hydroxysteroid Dehydrogenase Deficiency......Page 465
17,20 Lyase Deficiency: P450c17, Cytochrome b5 and Other Factors......Page 466
21-Hydroxylase Deficiency......Page 467
Pathophysiology......Page 468
Nonclassic 21-hydroxylase deficiency......Page 469
The CYP21 Genes......Page 470
Gene Conversions and Microconversions Causing Salt-Wasting 21-Hydroxylase Deficiency......Page 471
Postnatal Diagnosis......Page 472
Treatment......Page 473
Growth Hormone and Gonadotropin-Releasing Hormone Agonist Therapy......Page 474
Corticosterone Methyl Oxidase Deficiencies......Page 475
Adrenal insufficiency......Page 476
Autoimmune Disorders......Page 477
Immunotherapy-Related Autoimmune Disease......Page 478
MCM4 Mutations......Page 479
Adrenoleukodystrophy......Page 480
Other Causes......Page 481
Disorders of Proopiomelanocortin......Page 482
Cushing Disease......Page 483
Cushing Disease: Treatment......Page 484
The Ectopic Adrenocorticotropic Hormone Syndrome......Page 485
Approach to the Child With Endogenous Cushing Syndrome......Page 486
Aldosterone-Producing Adenomas (Conn syndrome)......Page 487
Familial Glucocorticoid Resistance......Page 488
Glucocorticoid therapy and withdrawal......Page 489
Replacement Therapy......Page 490
Commonly Used Glucocorticoid Preparations......Page 491
Withdrawal of Glucocorticoid Therapy......Page 492
References......Page 493
Genetic counseling and testing......Page 507
Pheochromocytoma and paraganglioma......Page 509
Clinical Presentation......Page 511
Biochemical Diagnosis......Page 512
Radiographic Studies......Page 513
Genetic Issues......Page 514
Medical Preparation for Surgery......Page 515
Medullary thyroid carcinoma......Page 516
Evaluation and Management......Page 518
Carney Complex......Page 519
Hereditary Paraganglioma-Pheochromocytoma Syndromes......Page 520
Clinical Presentation and Management......Page 521
Primary Hyperparathyroidism......Page 523
Gastrinoma......Page 524
Genetic Testing and Presymptomatic Screening......Page 525
Multiple Endocrine Neoplasia Type 2......Page 526
Medullary Thyroid Carcinoma in Multiple Endocrine Neoplasia 2B......Page 527
X-Linked Acrogigantism......Page 529
DICER1 Syndrome......Page 530
Peutz-Jeghers Syndrome......Page 531
Von Hippel-Lindau Disease......Page 532
References......Page 533
Neuroendocrine Unit......Page 544
Ovary......Page 545
Placenta......Page 546
Adolescent......Page 547
Follicular (Proliferative) Phase Ovary......Page 552
Factors Controlling the Onset of Puberty......Page 555
Regulation of Gonadotropin Secretion......Page 559
Neuroendocrine Unit......Page 560
Regulation of Ovarian Secretion......Page 561
Adrenarche and the Regulation of Adrenal Androgen Secretion......Page 562
Peptide Hormones......Page 563
Steroid Hormones......Page 565
Mammary Glands......Page 570
Adipose Tissue......Page 571
Central Nervous System......Page 572
The Fetus and Neonate......Page 573
Hormonal......Page 574
Clinical......Page 575
Premature Pubarche......Page 576
Constitutional Delay of Growth and Pubertal Development......Page 577
Physiological Adolescent Anovulation......Page 578
Other Normal Adolescent Variations......Page 579
Disorders of Sex Development......Page 580
Other Dysgenetic Disorders......Page 581
Complete Precocious Puberty......Page 582
Incomplete Precocity......Page 584
Differential Diagnosis......Page 586
Management......Page 587
Primary Ovarian Failure......Page 589
Gonadotropin Deficiency (Hypogonadotropic Hypogonadism)......Page 591
Differential Diagnosis......Page 594
Management......Page 599
Differential Diagnosis......Page 601
Management......Page 602
Differential Diagnosis......Page 603
Causes......Page 604
Clinical Manifestations......Page 605
Laboratory Manifestations......Page 606
Pathophysiology......Page 607
Other Causes of Functional Ovarian Hyperandrogenism......Page 609
Diagnostic Approach......Page 610
Management......Page 612
Hirsutism and Acne......Page 614
Obesity and Metabolic Syndrome......Page 615
References......Page 616
Chromosomal Origins......Page 643
Genotype-Phenotype Associations......Page 644
Diagnostic Tests......Page 647
Differential Diagnosis......Page 648
Lymphedema......Page 649
Growth failure, Short Stature, and Skeletal Anomalies......Page 650
Ovarian Insufficiency......Page 652
Gonadoblastoma......Page 653
Congenital Cardiovascular Malformations in Turner Syndrome......Page 654
Other Cardiovascular Health Issues......Page 656
Ongoing Cardiac Care......Page 657
Renal Anomalies......Page 658
Liver Disease......Page 659
Neurocognition and Psychological Features......Page 660
Initial Evaluation......Page 661
Cardiovascular Assessment and Monitoring......Page 662
Patients with Y Chromosome......Page 663
Growth-Promoting Therapies......Page 664
Puberty, Pubertal Induction, and Feminization......Page 665
Transition to adult care......Page 666
Outpatient Care and Treatment......Page 667
References......Page 668
Development of the Gonadotropin-Releasing Hormone Neuronal Network......Page 677
Pituitary Development......Page 678
Hypothalamic KNDy and Gonadotropin-Releasing Hormone Neurons......Page 679
Sex Steroids......Page 681
Hormonal Changes......Page 682
Physiological Mechanisms......Page 683
Somatic Changes......Page 684
Candidate Gene-Based Studies......Page 685
Effect of Body Mass Index on Pubertal Timing......Page 686
Precocious puberty......Page 687
Gonadotropin-Releasing Hormone-Independent Forms of Precocity......Page 688
Consequences of Precocious Puberty......Page 689
Treatment of the Child With Precocious Puberty......Page 690
Delayed puberty......Page 691
Genes Involved Gonadotropin-Releasing Hormone Neuronal Development......Page 692
Genes That Modulate Gonadotropin-Releasing Hormone Neuronal Function......Page 693
Self-limited Delayed Puberty or Constitutional Delay of Growth and Puberty......Page 694
Chemotherapy, Radiation Therapy, and Cancer Survival......Page 695
Consequences of Delayed Puberty......Page 696
History......Page 697
Physical Examination......Page 698
Testing......Page 699
Treatment of delayed puberty......Page 700
References......Page 702
Biological determinants of gender identity......Page 711
Internalizing Disorders and Gender Dysphoria......Page 713
Role of mental health in multidisciplinary care......Page 714
Current Treatment Models......Page 715
Outcomes and Potential Adverse Effects......Page 716
References......Page 717
Hypocalcemia in the Neonate and Infant......Page 721
Early Neonatal Hypocalcemia......Page 725
Late Neonatal Hypocalcemia......Page 728
Hypoparathyroidism......Page 729
Evaluation and Management......Page 735
Etiology......Page 738
Evaluation......Page 741
Management......Page 743
Etiology......Page 744
Evaluation and Management......Page 749
Etiology and Pathogenesis......Page 751
Evaluation......Page 757
Management......Page 758
Disorders of magnesium metabolism......Page 760
Hypomagnesemia......Page 761
Disorders of bone......Page 763
Low Bone Mass......Page 764
Rickets......Page 766
Calciopenic Rickets......Page 769
Phosphopenic Rickets......Page 775
Disorders of Alkaline Phosphatase Activity......Page 782
Chronic Kidney Disease-Mineral and Bone Disorder......Page 784
Disorders of Bone Mineralization......Page 785
Low Bone Mass......Page 786
Osteogenesis Imperfecta......Page 794
Errors in Synthesis and Processing of Collagen Type 1......Page 795
Evaluation of Children and Adolescents With Low Bone Mass......Page 798
Management of Children and Adolescents With Low Bone Mass/Osteogenesis Imperfecta......Page 799
Fibrous Dysplasia......Page 801
High Bone Mass......Page 802
Heterotopic Bone Formation/Ectopic Calcification......Page 809
Osteochondrodysplasias......Page 811
Concluding remarks......Page 817
References......Page 818
Introduction......Page 830
Classification......Page 831
Epidemiology......Page 833
Etiology, Pathogenesis, and Genetics......Page 835
Prediction and Prevention......Page 839
Insulin Biosynthesis......Page 840
Insulin Secretion......Page 841
Insulin Action......Page 843
Pathophysiology......Page 845
Clinical Manifestations of Diabetes Mellitus......Page 846
Diabetic Ketoacidosis......Page 847
Clinical and Biochemical Monitoring......Page 849
Deficit Replacement Fluids......Page 850
Potassium Replacement......Page 851
Transition to Subcutaneous Insulin Injections......Page 852
Cerebral Edema......Page 853
Complications......Page 855
Human Regular Insulin......Page 856
Rapid-Acting Analogs......Page 857
Initiating Insulin Therapy......Page 858
Insulin Pump Therapy......Page 859
CSII-Based Treatment Regiments......Page 860
Basal Insulin Rates......Page 861
Specific Considerations and Acute Complications of Insulin Pump Therapy......Page 862
Continuous Glucose Monitoring......Page 863
Practical Deliberations for Continuous Glucose Monitor......Page 864
Automated insulin delivery-Closed-Loop (Artificial pancreas)......Page 865
The emerging digital world of diabetes......Page 866
Medical Nutrition Therapy......Page 867
Hypoglycemia......Page 868
Associated Autoimmune Diseases......Page 869
Outpatient Care......Page 870
Nonautoimmune Type 1 Diabetes......Page 871
Diabetic Nephropathy......Page 872
Diabetic Retinopathy......Page 874
Classification of Diabetic Neuropathies (Modified from Pop-Busui et al.627)......Page 875
Typical......Page 876
MODY Syndromes......Page 877
Wolfram Syndrome......Page 878
Diseases of the Exocrine Pancreas......Page 879
Lipoatrophic Diabetes......Page 880
Neonatal Diabetes......Page 881
Concluding remarks......Page 882
References......Page 883
Introduction......Page 900
Central T-Cell Tolerance and AIRE......Page 901
Peripheral T-Cell Tolerance......Page 902
Autoimmune Diseases......Page 903
Defects in Tolerance That Cause Autoimmune Disease......Page 904
Classification of the autoimmune polyglandular syndromes......Page 905
Genetics of APS I and APS II......Page 906
APS I......Page 907
IPEX Syndrome......Page 909
Diagnostic approach and follow-up......Page 910
Adrenal Cytoplasmic Autoantibodies......Page 912
Autoantibodies in Hypoparathyroidism......Page 913
References......Page 914
Glucose Production and Utilization......Page 920
Adaptation to Longer Feeding Intervals......Page 921
Symptoms, signs, and effects of hypoglycemia......Page 922
Fasting systems approach to the diagnosis of hypoglycemia......Page 924
Glutamate Dehydrogenase Hyperinsulinism......Page 926
Hepatocyte Nuclear Factor 1A Hyperinsulinism......Page 927
Carbohydrate-Deficient Glycoprotein Hyperinsulinism......Page 928
Hyperinsulinemic Hypoglycemia Associated With Insulin Receptor Defects......Page 929
Insulinoma......Page 930
Nonislet Tumor Hypoglycemia......Page 931
Glycogen Storage Diseases......Page 932
Glucose-6-Phosphatase Deficiency (Type I GSD, Von Gierke Disease, Hepatorenal Glycogenosis)......Page 933
Diagnostic Studies......Page 934
Monitoring......Page 935
Amylo-1,6-Glucosidase Deficiency (Type III GSD, Debranching Enzyme Deficiency, Limit Dextrinosis, Cori Disease, Forbes Disease)......Page 936
Fanconi-Bickel Syndrome (Type XI GSD)......Page 937
Ketotic Hypoglycemia......Page 938
Deficiencies of Cortisol and Adrenocorticotropin......Page 939
Hereditary Fructose Intolerance......Page 940
Salicylate Intoxication......Page 941
Hypoglycemia in Organ System Disease......Page 942
Artifactual Hypoglycemia......Page 943
Emergency treatment of hypoglycemia......Page 944
References......Page 945
Energy balance......Page 955
Regulation of Food Intake......Page 956
Positive Regulation......Page 957
Negative Regulation......Page 958
Central Catabolic Signals......Page 959
Central Anabolic Signals......Page 960
The Efferent Vagus and Energy Storage......Page 961
Leptin Resistance......Page 963
Counterregulatory Mechanisms That Oppose Weight Loss......Page 964
Prevalence and Epidemiology......Page 965
Racial and Ethnic Considerations......Page 967
Insulin Resistance......Page 968
Lipid Partitioning......Page 969
Vascular Changes......Page 970
Adipocytokines......Page 971
The Metabolic Syndrome......Page 972
Polycystic Ovarian Syndrome......Page 973
Epigenetics and Developmental Programming......Page 974
Stress and Cortisol......Page 975
Trans Unsaturated Fatty Acids (Trans-Fats)......Page 976
Fructose......Page 977
Branched-Chain Amino Acids......Page 978
Ethanol......Page 979
``Classic´´ Endocrine Disorders With an Obesity Phenotype......Page 980
Leptin-Melanocortin Pathway Defects......Page 982
Syndromic Obesity Disorders......Page 985
Hypothalamic Obesity......Page 986
Diagnostic Approach......Page 987
Physical Activity Intervention......Page 988
Improvement of Insulin Resistance: Metformin......Page 989
Bariatric Surgery......Page 991
Laparoscopic Sleeve Gastrectomy......Page 992
Classification and Etiology......Page 993
Diagnosis and Evaluation......Page 994
Cancer Cachexia......Page 995
Definition......Page 996
Endocrine Manifestations of Anorexia Nervosa......Page 997
Conclusions......Page 998
Abbreviations......Page 999
References......Page 1000
Metabolism......Page 1020
Familial Ligand-Defective ApoB-100......Page 1023
Abetalipoproteinemia......Page 1024
Secondary causes......Page 1025
Vascular changes and dyslipidemia......Page 1026
Routine Screening......Page 1027
Diet therapy in managing dyslipidemia......Page 1028
Bile Acid-Binding Agents......Page 1030
Proprotein Convertase Subtilisin/Kexin Type 9 Inhibitors......Page 1031
Conclusions and future directions......Page 1032
References......Page 1033
Index......Page 1038
Inside Back Cover......Page 1075