IAP Textbook on Pediatric Endocrinology Vaman Khadilkar, Anurag Bajpai, Hemchand K Prasad
INDEX
Page numbers followed by b refer to box, f refer to figure, fc refer to flowchart, and t refer to table
A
Abdomen
acute 152
computed tomography of 126f
ultrasound of 123
Abdominal pain 154, 159, 236
chronic 152
gynecological causes of 159t
Abscess 156
Academy of Pediatrics Committee on Fetus and Newborns 509
Acanthosis nigricans 485, 485f
Acesulfame-K 427
Acetaminophen 253
Achondrogenesis 89
Achondroplasia 10, 89, 94f, 101
Acid-base
homeostasis 299f
regulation 299f
Acidosis 433, 436
metabolic 60, 216, 236, 301, 302f, 304fc, 318, 369
Aciduria, glutaric 384
Acne 111, 122
Acquired immunodeficiency syndrome 79
Acromelic dysplasias 90
Acromesomelic dysplasias 90
Acroosteolysis 358f
Acro-renal-mandibular syndrome 89
Addison's disease 30, 131, 211, 212, 217, 377, 379, 443, 541
Adenoma 527
pituitary 61, 123, 236
Adenomatosis polyposis, familial 206
Adenosine
diphosphate 8, 389f
monophosphate 282
triphosphate 8, 11, 237, 400, 412
Adenylate cyclase 295
Adiponectin 252
Adipose tissue 3
Adnexal tubo-ovarian mass 160f
Adrenal androgen production, onset of 111
Adrenal cortex 211
fetal 211
hyperfunction 219, 220t
Adrenal cortical
carcinoma 599
neoplasm, functioning 590
tumors 598
Adrenal crisis 230, 239
management of 230, 231
Adrenal dysfunction 519
Adrenal failure 237
Adrenal function 283
tests 218
Adrenal gland 216, 233, 593, 595f
anatomical zones of 212f
computed tomography of 247
development of 211, 212f
disorders 209
functions 211t
physiology of 211
Adrenal hormone deficiency 236
Adrenal hyperfunction 242, 562
Adrenal hyperplasia
congenital 21, 29, 120122, 148, 150, 183, 212, 219, 222, 226228, 230, 230t, 233, 235, 254, 256, 258, 267, 271f, 313, 320, 321, 561, 562, 590, 594, 594f, 606
macronodular 243
Adrenal hypoplasia 234, 235, 237, 238
causes of 237
congenita 322
syndromic 239
Adrenal insufficiency 19, 214, 218, 218t, 236, 236t, 237, 239, 240t, 312, 321, 384, 520, 521, 562
causes of 233, 233t
chronic 236, 239
confirmation of 218
diagnosis of 218
disorders 233
primary 211, 233, 236, 238, 238fc, 561
Adrenal lesions 588
Adrenal mass 590
Adrenal medulla 216
Adrenal neoplasm-neuroblastoma 595f
Adrenal steroid 222, 223
biosynthesis 270
Adrenal tumor 20, 126f, 594
Adrenalectomy, bilateral 247
Adrenalitis, autoimmune 234
Adrenarche 111, 114, 216
premature 120, 561
Adrenocortical carcinoma, management of 248t
Adrenocortical tumor, aldosterone producing 255
Adrenocorticotrophs secrete adrenocorticotropic hormone 68
Adrenocorticotropic hormone 5, 9, 12, 72, 107, 148, 212, 213f, 218, 220, 222, 233, 234, 238, 242, 255, 275, 279, 280, 393, 395, 482, 520, 528, 540542, 548, 551, 557, 606
defect 308
syndrome 234, 242
Adrenocorticotropin 270
Adrenogonadal primordium 211
Adrenoleukodystrophy 19, 216, 234, 237, 310
Adult onset autoimmune polyglandular syndromes 379
Agarwal growth charts 39
Alanine aminotransferase 394
Alazami syndrome 88
Albright's hereditary osteodystrophy 21, 352, 352f
Albumin 8
Alcohol 146
Aldosterone 251
deficiency 228, 308
escape 216
phenomenon 216fc
role of 300
synthetase 320
Alfacalcidol 606
dose of 364
Alkaline phosphatase 341, 354
Alkalosis
hypokalemic 215, 281
metabolic 318
Alopecia 190, 235
totalis 235
Alpha fetoprotein 534
Alpha hydroxylase deficiency 232, 545
Amenorrhea 165
primary 154, 162, 165, 166fc
prolonged 165
secondary 162
American Academy of Pediatrics 486
American Diabetes Association 441, 455, 482
American Joint Committee on Cancer 207
American Society for Reproductive Medicine 148, 150
American Thyroid Association Guidelines 208
Amine hormones 7
Amino acids 386, 412
Amino arginine vasopressin 558
Aminophylline 181
Amiodarone 190
Ammonia 386, 566
Ammonium ion 300
Amphotericin B 296
Anastrozole 128
Androgen 69, 216
deficiency 227, 236t
excess 227
exposure 149
insensitivity syndrome 133, 166, 227
complete 131, 269, 272
metabolism 269
producing tumors 148
production, excessive 269
status 225f
Androstenedione 530
Anemia 60
chronic 60
megaloblastic 403, 405
pernicious 235
Angiotensin-converting enzyme 251, 448, 450
inhibitor 279
Anomalies, congenital 154
Anorexia nervosa 369
Anovulation 148, 163
Anovulatory periods 166
Anthropometry 36, 62, 84, 485
Antiandrogen 20, 128
Antibody
based methods 542
blocking 15
effect 546
microsomal 198
stimulating 15
Antiestrogens 128
Antigen presenting cells 377
Anti-Müllerian hormone 14, 121, 133, 149, 264, 266, 540, 542
Antioxidants 426
Antipyretics 30
Antithyroid drugs 181, 204
Anxiety 203, 393
Aorta
coarctation of 143
Z-score of 143
Aortic dilatation 139
Aortic valve, bicuspid 143
Apolipoprotein 449, 469, 471473
Apparent mineralocorticoid excess 254, 255, 258, 316
Appendicitis 152
Arginine test 64
Arginine vasopressin 5, 9, 223, 276280, 286, 288, 291, 293, 295, 306, 540, 542, 558
indications of 606t
receptor 295, 296
response test 314
Arm span 37
Aromatase excess syndrome 146
Arrythmia 123
Arthralgia 236
Arthritis
juvenile idiopathic 369
rheumatoid 235
Aryl hydrocarbon receptor-interacting protein 243
Aspartame 427
Aspartate aminotransferase 394
Asperger syndrome 401
Asphyxia, perinatal 181, 384, 594
Asthenia 30
Astrocytoma 287
pilocytic 61
Ataxia 83
Atlas method 572, 580
Atresia choanae 131
Atrial natriuretic peptide 4, 216, 277, 279, 280
Atrial septal defect 400
Autocrine fashion 3
Autoimmune
disease 409
disorders 131, 132, 377
polyglandular syndromes, part of 190
Autoimmunity 546
Autonomic nervous system 216
Autosomal dominant 370
disorder 97f, 474
hypocalcemia 351
hypophosphatemic rickets 363, 365
neurogenic diabetes insipidus 287
osteopetrosis 373
Autosomal recessive 179, 351, 370
hypophosphatemic rickets 363, 365
neurogenic diabetes insipidus 287
Auxology 198, 510
Axillary hair 120, 157, 510
appearance of 111
reduced 236
B
Bacterial infection 190
Barakat syndrome 351, 352
Bardet-Beidl syndrome 21
Bariatric surgery 487
contraindications of 488
Bartholin cysts 156
Bartter syndrome 316, 317t, 318
Basal bolus regimen, combinations of 417t
Basal hormones 539
interpretation of 125t
Basal insulin 417, 456
Bayley-Pinneau tables 580
Beckwith-Wiedemann syndrome 104, 106, 384, 386, 530
Berardinelli-Seip syndrome 463
Beta-cell
function 454
genetic defects of 459
glucose sensor 12
insulin secretion 3
monogenic diabetes, subtypes of 464fc
nucleus 401
pancreatic 462
Beta-human chorionic gonadotropin 161
Beta-hydroxybutyrate 392, 395
serum 566
Beta-hydroxylase deficiency 232
Beta-hydroxysteroid dehydrogenase 222, 223, 225, 226, 322
deficiency 232
Beta-lymphocyte kinase 460
Betamethasone 605
Beta-oxidation cycle 393
Bicarbonate 386
filtration 300
fractional excretion of 304
Bicornuate uterus 461
Bile acid sequestrants 475
Biliary tract 402
Biphasic human insulins 416
Birth asphyxia 340
Birth weight
high 149
low 149, 182, 400, 505
very low 182, 343
Bisphosphonate 606
Bizarre neurological signs 393
Blastoma, pituitary 243
Bleeding disorders 163
Bloating 152
Blomstrand chondrodysplasia 351
Blood
count, complete 163
gas 386
glucose 283, 404, 425t, 433
capillary 406
control 456
homeostasis 383
levels 426, 427
self-monitoring of 419
glycemic levels 426
pressure 64, 229, 230, 283, 311, 317, 318, 415, 448, 483
categories 252t
diastolic 483
elevated 251
high 318
hormonal regulation of 251
measurement of 251
normal 318
systolic 483
sampling, fetal 174f
spot, dried 184
sugar 310
transfusions 517
recurrent 60
urea nitrogen 275, 283
Bloom syndrome 77
Blount's disease 484
Blueberry muffin 531
Blurred vision 393
Body mass index 37, 55, 113, 119, 135, 136, 230, 448, 453, 479, 494, 495, 507
Bolus
deduction of 311
fluid 314
insulin, premeal dose of 428
Bone
age 123, 124, 185, 575, 576, 578, 579
assessment of 571, 572
estimation, Tanner-Whitehouse method of 573
importance of 571
on growth chart, interpretation of 577f-579f
anatomic parts of 86f
deformities 370f
densitometry using dual-energy X-ray absorptiometry 332
density 97, 334
scanning 370
disease, metabolic 343, 344b, 344fc, 359, 368
disorders 332, 520, 521
evaluation of 333
radiological evaluation of 334
fracture 30
marrow transplantation 190, 373
metabolism 519
mineral apparent density 335
mineral density 114, 116, 139, 143, 333, 447
Bony deformity 122
Bow legs 361
Bowel disease, inflammatory 152, 369
Bowel syndrome, irritable 152
Brachial cleft cyst 198
Brachmann-de Lange syndrome 88
Brachydactylies 92
Bradycardia 29
Brain 96, 391
damage, diffuse 293
development 216
evaluate rest of 584
injury
hypoxic-ischemic 588
traumatic 132
magnetic resonance imaging of 65, 121, 123, 125, 126f
tumors 206
Breast
development 30
fetal 145
onset of 111
Tanner staging of 133
enlargement 122
benign 145
milk hypernatremia 313
normal development of 586
Tanner stage 119
ultrasonography of 146
Buserelin 127, 604
depot 604
C
Café au lait spots 30, 122, 123f, 146
Caffeine 181
Calciferol 606
Calcipenic rickets 359361, 362f
clinical features of 360
Calcitonin 350
Calcitriol 7, 606
Calcium 4, 7, 306f, 327, 328, 341, 344, 363
active transport of 338
balance
disorders of 339, 606t
regulation of 350fc
cascade disorders 355
concentration 327
deficiency 4f, 328f
prevention of 331t
rickets 362t
fractional excretion of 356
gluconate 322
metabolism 16, 17, 327
physiology of 327
sensing receptor 343, 351, 354
abnormalities 356
defect 317
disorders of 355
loss 342
Calorie diet, high 420
Cancers, childhood 198
Candidiasis, mucocutaneous 378
Carbimazole 204, 603
Carbohydrate 424, 427, 429t, 430t
amount of 427
containing food 426, 428, 430
content 425
intake 428, 429
number of 428
total 431
Carboxy ester lipase 460, 461
Carcinoma
adrenocortical 243
follicular 207
Cardiac failure 31, 308, 393
congestive 308
Cardiac magnetic resonance imaging 143
Cardiovascular disease 149, 446, 483
predictors of 449
Cardiovascular system 88, 405
Carney's complex 146, 206
Carney's Stratakis syndrome 252
Carnitine deficiency 384
primary 384
secondary 384
Carnitine palmitoyltransferase deficiency 384
Carnitine transport 393
Cataracts 447
Catch-up growth 113
Catecholamines 216
Celiac disease 60, 140, 190, 193, 235, 421
prevalence of 448
Celiac screen 143
Center for Disease Control 490f, 491fc
and Prevention 479
Growth Charts 40
Central adrenal insufficiency 233, 236, 239
Central nervous system 122, 203, 217, 234, 237, 253, 282, 287, 289, 291, 308, 405, 481, 486
causes 71
disorder 486
lesions 588
neoplasms 287
tumors 131
Cerebellar
hypoplasia 405
signs 405
vermis hypoplasia 402
Cerebral
calcification 373
edema 308f, 438
management of 438
sign of 437
palsy 369
salt wasting 280, 281, 283, 309
Cerebrospinal fluid 287, 290, 291, 534
Chemotherapy 71, 131, 293
Chickenpox 131
Chimeric gene formation 213
Chocolate cysts 159
Cholecalciferol 350, 606
Cholecystokinin 480
Cholesterol
absorption inhibitor 449, 475
acyltransferase 470
elevated 471
mitochondrial transfer of 224, 224f
source 223
Chondrocyte 53, 85
Chondrodysplasia punctata 89, 93
Chondroectodermal dysplasia 89
Chromaffin cells 216
Chromatography 543
Chromosomal
breakage syndrome 81
disorders 21, 85
Chromosome
analysis of 21
long arm of 400
paternal uniparental isodisomy of 399
Chronological age 578, 579
Chvostek sign 353
Chylomicronemia syndrome, familial 471, 474
Cimetidine 146
Cinacalcet 606
Cleidocranial dysplasia 92
disorders 92
Clitoris, cutting of 156
Clonidine test 64
Cocaine 253
amphetamine regulated transcript 480
Coeliac disease 369
Collecting system malformations 139
Coloboma 131
Color Doppler ultrasonography 185, 186
Coma 31
hypoglycemic 441
Comprehensive multidisciplinary intervention 487
Computed tomography 270, 388f, 532, 596, 597, 599
scan 581
Conn's syndrome 254
Constipation 152, 191
Cord blood 182
Coronary artery disease 446, 473, 474
Corpus callosum, agenesis of 405
Corticosteroid
binding globulin deficiency 8
therapeutic use of 217b
Corticotropin-releasing hormone 5, 9, 68, 218, 220, 223, 238, 245, 246
test 219, 220
Cortisol 4, 7, 213, 386
binding globulin 8, 563
circulates 213
transport 213
Costochondral junction, swelling of 361f
Cosyntropin 238
Cowden's disease 206
Coxsackie viruses 131
Cranial vault 85
Craniopharyngioma 61, 65, 126f, 132, 236, 287, 527, 528, 529fc, 584
Craniosynostosis 192
syndromes 92
Cranium 96
C-reactive protein 386
Creatine phosphokinase 394
Crouzon syndrome 89
Cryptomenorrhea 159, 161
Cushing's disease 242, 243t, 248fc, 369, 486
management of 247
Cushing's syndrome 30, 31, 57, 63, 148, 149, 213, 219221, 236, 242, 243, 245fc, 248, 255, 257, 258, 369, 413, 482, 530, 564
childhood 243t
classification of endogenous 242t
clinical features of 244f
exogenous 243
Cyclamates 427
Cyclic adenosine monophosphate 9, 278, 295
Cyproterone 128, 146
Cystathionine β-synthase gene 105
Cysts 405
simple 197
Cytokine receptors 10
Cytomegalovirus 234, 413
Cytosine-guanine-guanine 107
D
Deafness 291, 352
Deflazacort 605
Dehydration 228
Dehydrocholesterol 224
Dehydroepiandrosterone 223, 224, 270
sulfate 14, 17, 114, 120, 222, 225, 510, 530, 540542
Dehydrogenase, hydroxysteroid 243, 272, 321
Delayed puberty 130, 154, 517, 544, 550
boys 136fc, 226
disorders of 582
evaluation of 132
girls 135fc, 226
gonadotropin for 19
laboratory evaluation of 133b
management of 141
Demeclocycline 296
Dendrons 111
Dent's disease 366
Dentin matrix protein 365
Deoxycorticosterone 223, 258, 319
Deoxyribonucleic acid 21, 24, 99, 237, 243, 270, 413, 486, 508
binding domain 363
Depression, rate of 484
Dermatitis 405
Dermatological disorders 154
Dermatomyositis 369
Deslorelin 604
Desmopressin 291
Detemir 416
Dexamethasone 181, 255, 563, 605
suppression test 19, 220, 244, 540, 562
high dose 220, 246, 563, 564
low dose 220, 243, 245, 563
Dextrose normal saline 229, 231
Diabetes Control and Complications Trial 455
Diabetes
confirmation of 454
diagnosis of 412
diagnostic features of 464t
genetic causes of 463
insipidus 235, 276, 281, 283, 288, 289, 291293, 296, 312314, 460, 462, 540, 558, 559, 582, 584, 586f
acquired central 287
causes of 584
central 286, 287fc, 290, 290fc, 291t, 293t, 559
nephrogenic 290, 294, 295
management of 427, 456
mellitus 21, 31, 60, 291, 296, 340, 369, 392, 393, 397, 399, 433, 436, 446, 447f, 455, 460, 462, 485, 507, 517, 519, 520
classification of 399t, 412, 413t
complications of 446, 446t
diagnosis of 455t
gestational 413, 485
incidence of 409, 459
neonatal 399, 401, 403, 405, 407, 459
nonsyndromic permanent neonatal 400
pediatric 453
permanent neonatal 399, 400
prevalence of 433, 453
prevention of 411t
syndromic permanent neonatal 401
transient neonatal 399, 400
treatment of 456
type 1 18, 190, 409411, 413, 415, 455, 457, 459
type 2 413, 450, 453, 454, 456, 457, 482, 483, 488
mitochondrial 459, 462
monogenic forms of 459
pregestational 383
prevention trial 411
specific types of 413
types of 419t
Diabetic food products 426
Diabetic ketoacidosis 307, 407, 415, 433, 434, 435t, 437, 437t, 438, 454
cerebral edema in 438
complication in 437
diagnosis of 433
fluid management 434
management 433, 434
moderate-to-severe 433
mortality in 437
pathophysiology 433
prevention of 438
risk factors 433
severity of 434t
sodium in 434
Diabetic retinopathy, proliferative 449
Diamond Blackfan anemia 77
Diarrhea 205, 275, 393
congenital malabsorptive 405
Dichlorodiphenyldichloroethane 113
Dideoxynucleotides 24
Dietary
calcium deficiency, chronic 360
iodine deficiency, maternal 182
phosphate load, high 340
DiGeorge syndrome 22, 340, 350, 351, 351f
Dihydroepiandrosterone sulfate 216
Dihydrotestosterone 7, 542, 564, 565
Disease-specific growth charts 86
Distal
phalanges 574, 575
renal tubular acidosis 307
tubular acid secretion 300
Dizziness 83
Docosahexaenoic acid 411
Donohue syndrome 459, 462
Dopamine 181
agonists 106
receptor 530
Down syndrome 21, 22, 40, 61, 77, 86, 181, 196
Dry skin 182
Dubowitz syndrome 88
Duchenne muscular dystrophy 369
Dumping syndrome 393
Dyggve-Melchior-Clausen syndrome 98
Dynorphin 112
Dysbetalipoproteinemia 469
familial 474
Dyschezia 152
Dyselectrolytemia 433
Dysgenesis, epiphyseal 192
Dysgerminoma 236
Dyshormonogenesis 179, 194
Dyslipidemia 449, 483, 485
classification of 471
familial combined 474
Dysmenorrhea 154, 166, 167
causes of 167b
primary 167
severe 167
Dysmorphism 351
Dysostosis, cleidocranial 97f
Dyspepsia 152
Dysplasia
diastrophic 89
fibrous 365
frontonasal 95
metaphyseal 90, 234, 238
metatropic 89
septo-optic 73fc, 234
Dysuria 152
E
Ear 96
abnormalities 131
manifestations 140
nose throat 143
Echocardiography, transthoracic 143
Ectodermal dystrophy 378f
Ectonucleotide pyrophosphatase 365
Ectrodactyly 92
Edema, periorbital 182
Efavirenz 146
Ehlers-Danlos syndrome 369
Electrocardiogram 143
Electrocardiography 315, 319
Electrolyte
disorders 306
distribution 306, 306f
serum 566
Embedded penis 484f
Embryogenesis
function 171
physiology 171
Empty sella 586
Encephalomyopathy 462
mitochondrial 352
Encephalopathy, mitochondrial 351
Enchondromas 99
Endocrine 3, 481, 482
abnormalities 521
disorder 11, 24, 27, 31
laboratory assessment of 539
disrupting chemicals 113
role of 113
dysfunction 505, 517
embryology 5
gland 3, 68
development of 5
hypertension 251
etiology of 252
organ 3
concept of 3
programing, fetal 14
regulation fetal growth 51
system 4
tests 539
tumors 527
classification of 528t
Endocrinopathy 62, 517
Endometriosis 152, 154, 159, 167, 167b
Endosulfan 113
Endothelin 252
Enzyme
activity 228
catechol-O-methyltransferase 216
deficiency 232
inducers 12
linked immunosorbent assay 244, 564
results, deficiency of 226
Eosinophilia 217
Epilepsy 399, 401, 405
Epinephrine 4
Epiphyses 573f
method, scoring of 572
Epiphysiodesis 108, 365f
Epithelial sodium channel 254
Epstein-Barr virus 190
Erlenmeyer flask deformity 99
Estradiol 6f, 134
serum 125
transdermal patch 134
Estrogen 69, 104, 146, 412
conjugated 134
formulations 134t
therapy 133, 139
types of 134
Ethinylestradiol 134, 142
Ethylenediamine tetraacetic acid 23, 540, 541
Eugonadotropic eugonadism 131
European Society for Pediatric Endocrinology 268, 268t
European Society of Human Reproduction and Embryology 148, 150
Euthyroid sick syndrome 190
Euvolemia 282
Exocrine pancreas, monogenic diseases of 461
Exogenous steroid administration, high dose 561
External genitalia
development of 265f
structural development of 263
symmetrical 271f
transition of 270f
Extracellular hormone binding domain 68
Extracorporeal membrane oxygenation therapy 342
Extrapancreatic anomalies 405
Extrarenal loss 313
Eye 96
development 216
examination 405
manifestations 140
Eyelashes, black artifact of 472fc
Ezetimibe 449
F
Face 96
Facial dysmorphism 63
Fanconi anemia 77
Fanconi syndrome 303
Fanconi-Bickel syndrome 392, 403
Fasciculata 211
Fat 425, 428
collection 146
dietary 426
necrosis, subcutaneous 342, 356
Fatty acid
beta oxidation 385
disorders, mitochondrial 340
long chain 235
oxidation 395, 566
disorders 384, 385
Fatty liver disease, nonalcoholic 18, 484
Fenofibrate 449, 476
Fertility preservation 142
Fetal
glucose metabolism, regulation of 14f
hypothalamus-gonadotropic axis, development of 266
movements, reduced 94
parathyroid, independent 15
Fetomaternal-placental endocrine unit 15f
Fever 205
Fiber 425
dietary 425
intake 425t
Fibrates 476
Fibric acid derivatives 475
Fibroblast growth factor 10, 329, 350, 363
gene mutations 365
receptor 101
Fibrodysplasia ossificans progressiva 101
Fibroids 152, 167
cystic 60, 369
Fibrous dysplasia lesions, radiology of 366f
Figure-of-8 pattern 154
Finasteride 150
Fine-needle aspiration cytology 198, 207
Flash glucose monitoring system 420fc
Flat bones 85
Fludrocortisone 230
Fluid
administration 293
calculation 314
choice of 314
conserving arginine vasopressin 4
deficit 311, 312, 314
gastrointestinal loss of 275
intake 276
regulation of 276
overload 308, 311
replacement 293
restriction 283, 284
retention 83
status 310
Fluorescent in situ hybridization 22, 270
Fluoro-18-l-dihydroxyphenylalanine 388
Fluorodeoxyglucose 530, 596
Flutamide 149, 150
Follicle-stimulating hormone 5, 12, 68, 72, 107, 111, 112, 121, 125, 130, 131, 133, 135, 136, 163, 191, 214, 231, 264, 540542, 548, 557
Food timing, regularity of 420
Foot, deformity of 105
Forkhead transcription factor 266
Fractures 94
vertebral 370, 371f
Fragile X syndrome 107
Free fatty acids 386, 392, 566
Free testosterone 8
Free thyroxine 11, 107, 163, 541
Free triiodothyronine 11, 107, 540
Fructose 1,6-bisphosphatase deficiency 384, 392, 566
Fructosemia 384
Fumarate hydratase 253
Fundus, abnormal 122
G
Galactorrhea 123, 546
Galactosemia 131, 384, 403
Gallbladder 405
hypoplasia 405
Gamma aminobutyric acid 113
Ganglia, sympathetic 216
Ganglioneuroblastoma 596
Ganglioneuromas 596
Gastric mucosal neuroendocrine cells 51
Gastroenteritis 275, 293
Gastrointestinal disorder 442
Gastrointestinal tract 405
Gemfibrozil 476
Gene
encoding glucokinase 401
mutation 105
therapy 19
Genetic
abnormalities 243t
counseling 408
diagnostic tool 86
disorders 21, 86, 88t
heterogeneity 99
investigations 65
potential 60
role of 21, 454
skeletal disorders, classification of 90t
syndrome 87, 243, 401, 481, 486
Genital
abnormalities 131
ambiguity 269, 321
anomalies 234, 238
mutilation, female 156
tuberculosis 159
Genitalia 96, 120, 227
abnormal 154
acquired atypical 156
ambiguous 29, 271f, 582
asymmetric 271f
atypical 156, 227, 228
differential diagnosis of atypical 156t
symmetric 271f
Genitography 270
Genu varum 365f
correction of 365f
Germ cell
development of 263
primordial 264
tumor 6, 534, 535t, 584
derivation of 534fc
Germinoma 61, 65, 287
intracranial 586f
Gestational age 511
children born small for 507
Gigantism, pituitary 106-108
Gitelman syndrome 317, 317t, 318
Glands
ductless 3
follicular 5
Glargine 416
Glasgow coma scale 434
score 236
Glaucoma 405
Glibenclamide 461
Gliclazide 461
Gliflozins 461
Glimepride 461
Glioma 287
Glomerulosa cells 211, 216
Glucagon 4, 7
challenge test 567
dose 442
like peptide 1 480
mini-dose 442
test 64
Glucocorticoid 53, 56, 60, 205, 213, 218, 222, 238240, 254256, 412, 561
action of 215f
deficiency 53
familial 107, 235, 237, 238
endocrine interaction of 214
excess states 252
induced osteoporosis 372
insufficiency 233
remediable
aldosteronism 254, 258, 319
hyperaldosteronism 255
remedial hypertension 227
replacement 228, 229
perioperative 249
postoperative 249
resistance, primary 257
role of 214
stimulate transcription 214
supplementation 282
Glucogenolysis 433
Glucokinase 464
gene 461
hyperinsulinism 393
Gluconeogenesis
alcohol inhibits 441
disorders of 393
Gluconeogenic disorders 384, 386
Glucose 7, 386
6-phosphatase deficiency 384
deficiency of 4f
homeostasis 391
intolerance and diabetes 83
level monitoring 386
metabolism 14, 16, 18, 81
monitoring system, continuous 407, 418, 419
stimulates insulin 412
suppression test 19, 540
tolerance 507
transporter 389, 391
Glucotoxicity 454
Glutamate dehydrogenase hyperinsulinism 393
Glutamic acid decarboxylase 415, 540, 542
Gluten-free diet 422
Glycemic control 450
impaired 449
monitoring 407
Glycemic index, effect of 430
Glycogen storage
disease 394
disorder 384, 385, 566
Glycogen synthase deficiency 384
Glycogenolysis 16
Glycoproteins 121
Goiter 122, 194, 196, 197, 205
acquired 195
colloid 195, 197
congenital 194, 195
endemic 196
euthyroid 195
fetal 198
hyperthyroid 196
hypothyroid 196, 199f
idiopathic simple 195
indicates 194
types of 195
Goitrogen 190
ingestion 196
maternal 195
Gonadal
determination, genetic disorders of 269
dysgenesis 131, 133
failure 235
function 510, 564
malignancy, risk of 270, 272t
sex 264
steroids, rising 36
Gonadarche 111, 120
Gonadorelin 125
Gonadotrophs, pituitary 111
Gonadotropin
dependent 105
precocious puberty 122
high stimulated 125
independent 105
releasing hormone 5, 68, 107, 112, 126, 130, 133, 135, 136, 164, 228, 266, 520, 540, 557
agonist 133
analog depot injections 127t
analog therapy 127t
long acting 167
neurons of hypothalamus 111
partial deficiency of 132
pulse generator 111
stimulation test 125, 125t, 559
Gonads 14, 581
development of 263
impalpable 271f
pubertal function of 111
Gordon syndrome 257, 321
Goserelin 127, 164, 604
G-protein-coupled receptor 9, 10, 266
Granulosa cell 111
tumor 123, 588
juvenile 591
Graves’ disease 106, 182, 195, 196, 202, 204, 205, 245, 592, 603
Graves’ ophthalmopathy 217
Greulich-Pyle atlas 572
Growth
and puberty, constitutional delay in 56, 59f, 63, 67
chart 29, 38, 62, 122, 576
childhood 35
disorders 33, 56
classification of 56t
failure 10, 88b, 584
management of 141
hormone 4, 5, 7, 9, 10, 12, 16, 18, 19, 52, 53, 55, 63, 66, 68, 69, 72, 73, 76, 79, 104, 107, 113, 386, 393, 394, 412, 433, 447, 486, 487, 511, 528, 540542, 557, 571, 605, 606t
administration of 79
binding protein 6, 52, 53, 68
deficiency 17, 56, 63, 66, 7073, 73t, 74, 79, 80, 369, 384, 482, 486, 518, 520, 606
dosing of 79
growth factor 511
insensitivity syndrome 74, 557, 558
insulin, disorders of 69, 70fc, 86
overactivity 149
physiology of 56
preparations 79, 80
provocative tests 555t
receptor 74, 76, 447
recombinant 73, 80t
releasing hormone 6, 12, 19, 5153, 68
resistance 57
response prediction models 83
safety profile of 83
secretagogue 52
secretion, regulation of 52f
stimulation tests 64t, 73, 75, 555, 556
therapy 66, 76, 79, 80, 8284, 128, 139
treatment 66t, 79
infantile 35
linear 115
monitoring 36, 40
normal 35, 55
phases of 35
plate
epiphyseal fusion of 55
physiology 52, 53f
postnatal 35, 85
prenatal 51
promoting therapy 231
pubertal 36
rate 55
restriction, fetal 181
retardation 55, 55t, 56, 131
Guanine nucleotide binding protein 243
Guanosine
diphosphate 10
triphosphate 10
Gynecological disorders 152, 154, 154t, 162, 168
adolescent 154
assessment of 154t
Gynecomastia 122, 145, 146, 146f, 484, 484f
familial 146
idiopathic pubertal 145
pubertal 147f
H
Hair 96
Hallermann-Streiff syndrome 88
Hamartoma 588
Harrison sulcus 361f
Hashimoto's disease 195, 196, 592
Hashimoto's thyroiditis 182, 189, 195, 196, 202, 547
Hashitoxicosis 197, 202, 203
Head trauma 588
Headache 393, 546, 585
severe 598f
Heart 123
defects 131
congenital 405
disease, congenital 60, 96
Hematocolpos 161
Hematological disorders 60, 369
Hematoma 156
Hematometra 152, 161
Hematuria 30
Hemidysplasia, congenital 92
Hemiuterus, obstructive 167
Hemivagina, obstructive 167
Hemochromatosis 351
Hemodynamic stimuli 282
Hemoglobin 517
glycated 441
Hemolysis 306
Hemolytic anemia, autoimmune 405
Hemorrhage
adrenal 594, 595f
postpartum 163
Hepatic failure 393
Hepatitis
autoimmune 190
chronic active 235
risk of 204
Hepatoblastoma 123
Hepatocyte nuclear factor 9, 460, 461
Hepatoma 123
Hepatomegaly glycogen deposits 405
Heterophile antibody, effects of 546f
Heterosexual precocity
boys 122
girls 122
Hip
dysplasia, congenital 143
pain 485
Hirsutism 485
Histrelin 604
Homeostasis 275, 279
Homocystinuria 105-107
Homovanillic acid 532
Hook effect 546f
Hormonal disorder 68
causes of 18
Hormonal metabolism 12
Hormonal regulation 12
Hormone 3, 12, 51, 394, 539
action 9
mediated 5
adrenocortical 213
adrenomedullary 242
antagonism of 4
antidiuretic 68, 252, 282, 294, 605
change over life span 13
classes of 7t
deficiency 80, 393
counter-regulatory 384
demonstrate pleiotropy 4
disorders managed 19
interact 4
physiology 3
complexities of 3
pituitary 4, 133
placental 15
receptor 12t
binding 11
types of 9f
regulating insulin-like growth factor-1 secretion 69b
release 8
replacement therapy 535, 603
response element 11
role of 3
sensing 12
status assessed 18
structure 7
synthesis 6
systems 17
therapies 132
transport 8
Human breast milk 216
Human chorionic gonadotropin 121, 134, 146, 264, 287, 291
stimulation test 564
Human genome project 21
Human growth 35
hormone 146, 555
Human immunodeficiency virus 155, 234, 235, 238
Human insulin receptor 416, 417
Human leukocyte antigen 140, 378, 410, 411, 455
Human placental lactogen 14, 15
Hungry bones syndrome 345
Huntington disease 23
Hydration status 311
Hydrocephalus 588
Hydrochlorothiazide 297, 355
Hydrocortisone 230, 239, 240, 605
dose of 239
Hydrogen
peroxide generation 180
power of 317, 318, 394, 434
urine power of 304
Hydronephrosis 462
Hydrophilic peptide hormones 8
Hydroxylase 224, 225
deficiency 227, 316, 321, 322
Hydroxymethylglutaryl CoA
lyase deficiency 393
synthase deficiency 393
Hydroxyprogesterone 541, 542, 548, 551
Hydroxyvitamin D 341, 542
Hymen, imperforate 152, 156, 161
Hymenectomy 161
Hyperaldosteronism 313
familial 254
primary 254
Hyperandrogenemia 148, 582
Hyperandrogenism 149
adolescent 154
biochemical signs of 148
Hypercalcemia 14, 236, 296, 341, 355
causes of 342b, 357
clinical features of 357
differential diagnosis of 343t
familial
benign 355
hypocalciuric 342, 343, 355
idiopathic infantile 357
manifestations of 342
work-up of 356fc
Hypercalcemic parathyroid hormone, predominant role of 4
Hypercalciuria 303f, 366
Hyperchloremic metabolic acidosis, confirmation of 301
Hypercholesterolemia 449, 471
familial 469, 472, 472fc, 473, 473t, 475
Hypercortisolemia 218, 530
etiological evaluation of 220
Hypercortisolism
endogenous 242, 243, 245
source of 246fc
Hyperfunction, autonomous 202
Hyperglycemia 403, 404, 404fc, 433, 460
chronic 454
mild fasting 465
osmotic load of 434
Hyperinsulinemia 463, 509
Hyperinsulinism 12, 393
congenital 383385, 388fc, 393
exercise induced 393
Hyperkalemia 228, 236, 255, 257, 303, 311, 318, 319t, 320, 320t, 321, 321t, 322, 322fc, 322t
diagnosis of 321t
etiology of 320fc
Hyperlipidemia 449, 450, 476
familial combined 469
Hypernatremia 312, 313, 314fc, 322
clinical features of 308f, 308t, 312f, 312t
Hypernatremic dehydration, management of 315t
Hyperosmolar hyperglycemic state 454
Hyperostosis, cortical 99
Hyperparathyroidism 258, 340, 355, 358f
causes of 355t
familial isolated 355, 356
laboratory findings of 357
neonatal severe 343, 355
primary 253, 349, 355
secondary 80, 342, 355
tertiary 355
transient 355
Hyperphagia, severe 481
Hyperphosphatemia 343
Hyperpigmentation 156
Hyperplasia 527
generalized 355, 356
Hyperprolactinemia 12, 20, 149, 369
Hypertension 143, 217, 226, 251, 257, 258, 448, 449, 483, 483t, 485
benign intracranial 83
development of 16
drug induced 252
endocrine causes of 252t
low renin 215, 254, 258fc
pediatric 483
systemic 139
systolic 258, 449
Hyperthecosis 149
Hyperthyroidism 106, 107, 176, 195, 197, 202, 369
autoimmune 61, 106
causes of 202, 203, 203t
incidence of 202
management of 204
neonatal 204, 205t
sign of 203t
symptoms of 203t
Hypertriglyceridemia 463, 471, 473, 476
familial 469, 474
primary 472t, 473, 476
treatment of 471
Hypertrophied cartilage, zone of 85
Hypertrophy, vulvar 156
Hyperuricemia 461
Hypervitaminosis D 343
Hypoadrenalism 421, 517
Hypocalcemia 339, 341b, 362, 369, 372
acute 355
causes of 276, 340, 340b, 392
maternal 14
neonatal 340, 340b, 384t
temporary 208
work-up of 354fc
Hypocortisolemia 218
Hypoglycemia 14, 236, 383, 383t, 386, 391394, 394t, 395fc, 421, 422, 437, 441443, 509, 565, 566, 566fc
causes of 393t
chronic 393
clinical
manifestations of 393t
presentation 442
complications 443
diagnostic evaluation of 386t
episode of 443
exercise-induced 441, 443
high risk of 406
hyperinsulinemic 509
hypoinsulinemic 384
impaired 443
awareness of 443
ketotic 392, 393, 395
management of 442
mild-to-moderate 421
neonatal 12, 63, 383, 387fc, 388
neurological sequel 443
nocturnal 442, 443
nonpancreatic tumor 393
persistent neonatal 384
postexercise 421
postprandial 426
psychological impact of 443
reactive 393
recurrent 393
severe 441, 443
sign of 391, 393
symptoms of 391, 393
test, insulin induced 219
transient neonatal 357, 383
unawareness 443
Hypoglycemic episode 441
Hypogonadism 130, 369
hypergonadotropic 130, 131, 131t, 135
hypogonadotropic 5, 130, 131, 132t, 134
management of 133, 134
permanent 133, 134
Hypokalemia 296, 311, 315, 315t, 317, 319fc
acute 319fc
evaluation of 318t
manifestations of 315t
pathophysiology of 316fc
Hypomagnesemia 316, 340, 351
Hyponatremia 228, 236, 239, 282, 283, 284, 307, 308, 308t, 310, 310fc, 311, 322
acute 277
adrenal cause of 311t
causes of 310t
chronic 277
etiology of 309fc
presence of 283
treatment of 284
Hyponatremic dehydration, management of 311, 312t
Hypoparathyroidism 19, 329, 340, 350, 352354, 519, 521
acquired 351
causes of 351t
clinical features of 353
congenital 351
familial isolated 351
maternal 345
nonsyndromic isolated 350
prevalence of 349
transient neonatal 350
Hypophosphatasia 94, 334, 366, 367f
Hypophosphatemia 343, 359, 360
Hypophysitis, lymphocytic 288, 584
Hypopituitarism 384, 585
genetic causes of congenital 72t
syndromic 73fc
Hypoplasia 401, 585
labial 154
pituitary 132
Hypoproteinemia 308
Hypospadias 14, 29
Hypotension 236
Hypothalamic
area, lateral 480, 481
disease 30
disorder 30
glioma 588
obesity, acquired 482
pituitary
adrenal function 240
axis 13, 51
cross talk 5f
damage 19f
dysfunction 190
gonadal axis 16f, 111, 112, 112f, 120, 266
hypothyroidism 181
lesions 57
malformations 584
ovarian axis 162
thyroid axis 171, 175
Hypothalamus 133
fetal 171
magnetic resonance imaging of 132
paraventricular nucleus of 277f
receives signals 51
secretes thyrotropin-releasing hormone 175
ventromedial 480
Hypothermia 383, 393
Hypothyroidism 19, 57, 121, 122, 149, 163, 189, 195, 258, 309, 421, 486, 517, 519, 520, 603
acquired primary 189
adolescents acquired 189
biochemical 200
central 176, 195
congenital 178180, 182, 184, 184fc, 185, 186, 186fc, 186t, 189, 190, 405, 592, 603
consumptive cause of 179, 181
juvenile 123, 189, 189b, 190, 192fc, 603
phenotype of 122
primary 176
secondary 189
subclinical 10, 176, 520
transient 179, 181, 189
Hypothyroxinemia, transient isolated 185
Hypotonia 29, 182, 402
Hypovolemia 278f-280f
I
Ichthyosiform eythroderma 92
Idiopathic thrombocytopenic purpura 163
Ifosfamide 296
Immune system 202
Immune thrombocytopenic purpura 163, 235
In vitro fertilization 229
Indian Academy of Pediatrics 39, 49f, 119, 331t, 362, 479
chart 492f, 493fc
growth monitoring guidelines 40
Indian Council for Medical Research 328, 409
Infancy, early 112
Infections 131, 288, 383, 581
Infiltrative disorders 190, 288
Insomnia 191, 203
Insulin 4, 6f, 10, 51, 54, 56, 69, 406, 447, 455, 456, 461
action 412
genetic defects in 459, 462
analogs 417
long-acting 416, 417
autoantibodies 410, 415
autoimmunity 393
binding of 11f
biosynthesis 412
conventional 416
correction factor 420
dextrose drip 322
dosage 428
pattern 421
drawing 417
gene 412
growth factor binding protein 6
infusion 436, 437
continuous subcutaneous 416, 418
injection
complications of 418
inspection of 422
sites 418
technique 417
like growth factor 47, 17, 19, 52, 53, 56, 69, 76, 80, 88, 107, 243, 393, 447, 486, 518, 540, 542
axis 511
binding protein 76, 486, 540, 542
primary 74
receptor 69
resistance 74
like peptide 264
molecule 447
precursors of 412
premeal dosage of 428
preparations, different 417t
pump 406, 418, 430
receptor 11f
gene 462
regimens 417
release, process of 8f
resistance 149, 393, 454
homeostatic model assessment of 565
states 148
syndrome 462, 463f
secretory defects 148
sensitivity 116
sign of 454
signalling defects, primary 462
synthesis, process of 7f
therapy 405, 406, 416, 436
tolerance test 64, 238
transport and storage 418
types of 416
Insulinoma 393
Insulinopenia 454
Internal genitalia
development of 265f
structural development of 263
International Diabetes Federation 483
International Pediatric Adrenocortical Tumor Registry 531
International Society for Clinical Densitometry 334
Intestinal loss 315
Intracavernous corticotroph adenoma, right 246f
Intracranial pressure 122, 588
Intracytosolic adenosine triphosphate 389f
Intrauterine growth 35, 51
restriction 74, 113, 182, 205, 234, 238, 344, 383, 384, 402, 508
Iodine 190
deficiency 179
endemic 190
goiter 196
Iodotyrosine deiodinase defect 180
Irish traveller syndrome 234
Iron absorption, gastrointestinal 517
Islet cell antibodies 415
Isonicotinylhydrazide 254
Isosexual precocity
boys 122, 226
girls 122, 226
Isotonic sodium deficit 311, 312
Itchy dermatitis, chronic 154
Itchy skin, dry 236
J
Jamaican vomiting sickness 393
Jansen's metaphyseal dysplasia 342, 343
Jansen's syndrome 355, 357
Janus kinase 10
Japanese Diagnostic Criteria 473
Jaundice 122
neonatal 63
prolonged 29
Johanson-Blizzard syndrome 88
Joint 96
dislocations 94
pain 94
stiffness 94
swelling 94
K
Kallmann syndrome 5, 10, 131133, 266
Karyotype 21, 22
limitations of 22
Kearns-Sayre syndrome 234, 237, 351, 352
Kenny-Caffey syndrome 351
Ketoacidosis 519
Ketoconazole 128, 146
Ketone body 386
synthesis 384
Khadilkar growth charts 39
Kidney 96
disease, chronic 60, 66, 367, 580
duplex 400
injury, acute 343
multicystic 94
Kinase inhibitor, cyclin-dependent 243
Klinefelter syndrome 21, 22, 104-107, 131133, 196, 268, 369
Knee pain 485
Knocked knee 361
Knuckle prominence, absence of 352f
Krebs cycle 389f
Kyphosis 83
thoracolumbar 105
L
Labia
majora
fusion of 156
minora
fusion of 156
scrotalization of 156
Labial adhesions 154, 156, 156f, 157
Lactate 386
dehydrogenase 161
Lactic acid 462
Lactobacillus 154
Lamina terminalis 584
Langerhans cell histiocytosis 197, 584
Large for gestational age 383, 507
Laron syndrome 74
Lawson Wilkins Pediatric Endocrine Society 268, 268t
LDDS-CRH test 245
Lecithin cholesterol acyltransferase deficiency 471
Lentigines, pigmented 249
Leprechaunism 459, 462
Leptin 56, 481, 487
receptor gene 481
Leri-Weill dyschondrosteosis 139
Letrozole 128
Leukemia
acute lymphoblastic 369
childhood 206
Leuprolide 127, 164, 604
Levodopa test 64, 253
Levonorgestrel intrauterine system 164
Levothyroxine sodium 603
Leydig cell 145
hyperplasia 121
hypoplasia 269
Libido, reduced 236
Lichen sclerosus 154, 155, 157
Liddle syndrome 227, 257, 313
Li-Fraumeni syndrome 249
Ligand-binding domain 363
Limb 96
defects 92
hypoplasia-reduction defects group 92
Linear nevus sebaceous syndrome 366
Lipid disorders 467, 469, 476
classification of 471, 471t
epidemiology of 470
management of 474
primary 473b
secondary 471
Lipid metabolism 469, 470f
Lipoatrophy 422, 447
Lipodystrophies, monogenic 463
Lipohypertrophy 422, 447
formation, perpetuating 447
Lipoprotein
high density 455, 464, 470, 471, 483
intermediate density 469, 470
lipase 472
deficiency 476
low density 224, 455, 469, 470, 483
low high density 471
reduced high-density 463
very low density 469, 470, 472
Lithium 296
Liver
anomalies 405
disease 308, 519
chronic 8, 308, 519
dysfunction 60, 405
enzymes 81
function test 81, 276
abnormal 461
screening alanine aminotransferase 484
Long chain acyl-CoA dehydrogenase deficiency 384
Low-renin hypertension, causes of 254t
L-thyroxine 191
Lugol's iodine 205
Lumbosacral spine, lateral 97
Lumps, vulvar 156
Lung maturation 214
Lupride 125
Luteinizing hormone 3, 5, 72, 107, 111, 112, 121, 125, 127, 131, 133, 135, 136, 145, 148, 231, 264, 514, 540542, 548, 557
Lutropin-choriogonadotropic hormone receptor 12
Lymph node, retroperitoneal 248
Lymphedema 139
Lymphoma 206, 287
Lysine vasopressin 291, 292
M
Macroglossia 182
Macroorchidism 120
Macrosomia 461
Macrovascular disease 449
Magnesium 306f, 317, 341, 354
Magnetic resonance imaging 133, 166, 270, 290, 528, 532, 581, 587, 591, 596, 597
Malabsorption
causes of 421
syndromes 235, 369
Malaria 131, 393
Male contour body development 122
Malformation syndromes 85
Malnutrition 132, 393
acute 38
chronic 60
Mamillary bodies 584
Maple syrup urine disease 384, 392, 395, 566
Marfan syndrome 37, 105107
scoring of 105t
Mass
abdominal 152
spectroscopy 542t, 544f
Maternal androgen production 269
Maturity onset diabetes of young 413, 459, 565
Mauriac syndrome 447
Maxillonasal dysostosis 95
McCune-Albright syndrome 10, 11, 30, 106, 121, 123f, 128, 160, 202, 243, 246, 365, 530
Mechanical ventilation 181
Meckel syndrome 234
Medical nutrition therapy 420, 424
Medium chain acyl-CoA dehydrogenase deficiency 384
Medroxyprogesterone, depot 164
Medulla secretes epinephrine 216
Medullary thyroid
cancer 206, 253
carcinoma 207
Melanocortin receptor 480, 486
Melanocyte stimulating hormone 212, 213f
Melanocytic nevi, acquired 140
Membrane transporter defects 181
Menarche 111, 114, 119, 120
premature isolated 120
without
pubarche 120
thelarche 120
Meningioma 61
Menopause 150
Menorrhagia 162, 163, 163b
chronic management of 164t
emergency treatment of 164t
work-up of 163t
Menses, irregular 485
Menstrual cycle 114
normal 162, 162t
Menstrual disorders 154, 162, 582
Menstrual irregularities 149
Menstruation, hidden 161
Mental retardation 128, 351, 485
fragile X 107
Metabolic diseases 234
Metabolic disorder 340, 385, 508
Metabolic syndrome 18, 37, 81, 230, 240, 453, 457, 471, 479, 483, 508
Metaiodobenzylguanidine 531, 532, 594
Metal ion deposition 351
Metanephrines 253b
Metformin 149, 151, 456
Methimazole 204, 603
Methyl dopa 253
Methylation analysis 403
Methylmalonic acidemia 392
Methyl-prednisolone 605
Metyrapone tests 219
Microalbuminuria, treatment of 448
Microdeletion syndrome, diagnosis of 22
Micronutrient deficiencies 60
Micropenis 271f
Microphthalmia 405
Microsomal triglyceride transfer protein 476
Middle phalanges 574, 575
Midline congenital anomalies 586
Midnight serum cortisol 244, 564
Mineral 426
bone disorder 367
homeostasis 339fc, 344fc
fetal 338
Mineralocorticoid 214, 222, 225f, 561
deficiency 226
excess 227
states 252, 254
receptor blockers 254
replacement 228, 229
status 219
Minipuberty 112, 120
Mirage syndrome 233
MIRENA 164
Mitchell-Riley syndrome 402
Mitochondrial disorders 351, 352
Mixed gonadal digenesis 271f
Molecular genetic testing 23, 463
Molgaard approach 335
Monoamine oxidase inhibitors 253
Monocarboxylate transporter 11, 203
Monogenic diabetes 459
diagnosis of 463
types of 460t
Monogenic disorders 85, 481
Monogenic endocrine disorders 21
Morning headaches 485
Mottled skin 182
Mucopolysaccharidosis 67
Mulibrey Nanism syndrome 88
Müllerian agenesis 165
Müllerian anomaly 153
obstructive 167
Müllerian duct 263
aplasia-renal agenesis-cervicothoracic somite dysplasia association 269
syndrome, persistent 269
Müllerian inhibiting substance 266
Müllerian regression 14
Müllerian structures, anomalies of 269
Multicentre growth reference study 38
Multifactorial disorders 21
Multinodular goiter 196
Multiple endocrine neoplasia 243, 253, 355, 356, 393, 527, 532
Multiple fractures 99
Multiple pituitary hormone deficiency 56, 63, 66, 69, 72, 234
Mumps 131
Muscle
aches 30
bulk 122
function 336
proximal 361
Myalgia 236
Myotonic dystrophy 131
Myxedematous skin changes 191
N
Nafarelin 604
Nail 96
patella syndrome 98
National Centre for Health Statistics 39
National Cholesterol Education Program's 483
National Health and Nutrition Examination Survey 37, 482
Natriuresis 282
Natriuretic peptide 280, 281
C-type 101
receptor-b 101
systems 306
Nausea 236
Necrobiosis lipoidica diabeticorum 446
Neisseria meningitides 235
Nelson syndrome 247
Neoplasms 581
Neotame 427
Nephritis, immune complex 190
Nephrocalcinosis 303f
Nephrogenic syndrome of inappropriate antidiuresis 283, 284
Nephropathy 448, 450
treatment of 448
Nephrotic syndrome 8, 308, 369, 471
Neural crest tumors, classification of 528t
Neuroblastoma 531, 533t
Neuroendocrine regulation 480, 480fc
Neuroendocrine tumor 253
classification of 528t
Neurofibroma 253
Neurofibromatosis 532
Neuroglycopenic symptoms 442, 443
Neurological damage, permanent 393
Neuronal cells, modified 216
Neuropathy 448, 450
autonomic 448
peripheral 448
predictors of 448
Neurophysin 286
Neurosecretory defects 73
Neutral protamine Hagedorn 406, 416, 417, 456
Nicotinamide adenine dinucleotide phosphate hydrogen 232
Nifedipine 146, 387
Nijmegen breakage syndrome 88
Nodular adrenal
disease, primary pigmented 246
hyperplasia, primary pigmented 243
Nodular adrenocortical disease, primary pigmented 243
Nodular goiter 195, 196
Nodules, benign-multiple 593f
Nonclassic congenital adrenal hyperplasia 149
Noncompetitive immunoassay 543, 543f
Nongenital bleeding 157
Non-growth hormone deficient conditions 80
Nonnutritional origin, rickets of 362
Nonosmotic nonhemodynamic stimuli 282
Nonproliferative diabetic retinopathy, progression of 449
Nonsteroidal anti-inflammatory drugs 167, 282, 297
Noonan syndrome 24, 61, 76, 79, 82, 86, 131, 606
Norethindrone acetate 164
North American Society of Pediatric and Adolescent Gynecology 156
NROB1 gene 237
Nucleic acid sequences, specific 23
Nutrition 51
parenteral 369
Nutritional management 420
Nystagmus 57
Obesity 132, 149, 477, 479t, 480
cause of 486t
childhood 479, 480
etiology of 481t
exogenous 105
health consequences of 482
monogenic 481, 486
role of 453
syndromic 482
O
Octreotide 487
Ocular abnormalities, external 140
Oligogenic disorders 21
Oligomenorrhea 164, 165
Opioids 146
Optic atrophy 57, 291, 405, 460, 462
Optic chiasm 584
Optic glioma 61
Optic nerves, evaluate 584
Optimal glycemic targets 407
Oral calcium 362
Oral cavity 96
Oral contraceptive pills 149, 151, 164
Oral elemental phosphate, dose of 364
Oral estrogen-progesterone pills 165t
Oral glucocorticoid, high dose 369
Oral glucose tolerance test 486, 565
Oral hypoglycemia agent therapy 406
Oral melanosis 122
Organic academia, diagnosis of 403
Organic acids 386
Organic disease 51
Organochlorine pesticides 252
Osmolality
estimation of 275
regulation 275
Osmotic disorders, impact of 279
Osmotic diuresis 313
Osteoclast 373
poor autosomal recessive infantile osteopetrosis 373
rich autosomal recessive infantile osteopetrosis 373
Osteogenesis imperfecta 101, 332, 369, 370, 370f, 371f
classification of 370t
Osteolysis 99
Osteolytic bone invasion 343
Osteomalacia, tumor-induced 366
Osteopathy, preterm 344
Osteopenia 358f
Osteopetrosis 372, 373
infantile 340
Osteoporosis 369
idiopathic juvenile 334, 369, 372
primary 369
pseudoglioma syndrome 369, 372
secondary 369
Osteoprotegerin 447
Otitis media 142
Ovarian
cysts 128, 154, 159, 160, 590, 590f
etiology of 160t
endometriosis 167
failure
autoimmune 131
premature 139
hyperandrogenism, functional 148
insufficiency 139
mass 152
maturation, estrogen-mediated 590
pathology 581
torsion 152, 154, 159, 161
tumors 121, 128, 159, 590
volume 124, 125, 588t
Ovaries 111, 535, 581
multicystic 123, 192
stromal tumors of 588
ultrasound images of 589f
Overgrowth syndrome 104, 105
Overnight dexamethasone suppression test 243245, 563
Overnutrition 17
Oxandrolone 81
Oxidoreductase deficiency 232
P
Pacak-Zhuang syndrome 252
Paget's disease, juvenile 334
Pain
growing 361
premenstrual onset of 167
progressive 167
recurrent abdominal 152, 160f
Pallister-Hall syndrome 234
Pamidronate 606
administration of 371t
Pancreas 15, 581
artificial 418, 420
hypoplastic 404
islets of 409
Pancreatic polypeptide-producing tumors 528
Pancreatitis 476
Panhypopituitarism 132
Papilledema 485
Paracrine 3
Parafollicular gland 5
Paragangliomas 252, 253
Parathormone 349, 351, 355
maternal 338
Parathyroid 14, 581
gland 6, 349
adenomas of 527
disorders of 349, 356
hormone 4, 12, 15, 17, 66, 208, 259, 328, 328f, 333, 339343, 360, 369, 379, 447, 519, 540, 542, 548, 551, 605
level of 60
Paraventricular nucleus 277f
Paresthesias 393
Partial androgen insensitivity syndrome 269, 272
Partial anomalous pulmonary venous return 139
Patella
double layered 99
hypoplastic 99
multilayered 99
Patellar dysostosis 92
Patent ductus arteriosis 400
PCSK9 inhibitors 475
Pearson marrow-pancreas syndrome 351
Pectus carinatum deformity 105
Pectus excavatum deformity 105
Pediatric emergency care 435
Pediatric endocrine
disorders 539, 581
tumors 535
Pediatric endocrinology 1, 3, 20, 555
Pediatric pheochromocytomas, genetic causes of 253t
Pelvic
inflammatory disease 152, 154, 159, 160, 167
organ
dimensions 124t
ultrasound 124
pain, chronic 167
ultrasound 590
Pelvis 581
Halberd-shaped 99
ultrasound of 123, 124, 590f
Pena-Shokeir syndrome 234
Pendred's syndrome 180, 195
Peptide, parathormone related 350
Perinatal hypoxia-ischemia 383
Peripheral quantitative computed tomography 332, 334337
Persistent disease, management of 247
Pes planus 105
Petrosal sinus sampling, bilateral inferior 220, 221, 245247
Peutz-Jeghers syndrome 122
Phenobarbitone 12
Phenotypic sex 263, 264
Phenytoin 12
Pheochromocytoma 252, 531, 596, 598, 598f
pediatric 532fc
Phosphate 306f, 354, 436
homeostasis 343
low serum 360
metabolism, disorders of 343
tubular reabsorption of 343, 344, 364
Phosphodiesterase 243
Phosphoenolpyruvate carboxykinase 386, 566
deficiency 384
Phosphopenic rickets 359, 360, 363
Phosphorus 341, 344
disorders 338
metabolism 328
physiology of 327
Phototherapy 340
Pictorial blood assessment charts 163
Pigeon chest deformity 361
Pinealoma 287
Pituitary adenomas
familial isolated 243
management of 530t
Pituitary cells, anterior 56
Pituitary disease 217
Pituitary dysfunction 584
Pituitary function
anterior 249
test 555
combined 557
Pituitary gland
absence of 585
congenital malformations of 585
developmental malformations of 585
duplication of 586
magnetic resonance imaging of 245
pituitary 6, 51, 68, 133, 582
Pituitary hormone
anterior 12
counterpart 5f
deficiency, combined 71, 555, 557, 557t
Pituitary organogenesis, abnormal 70
Pituitary somatotropes, anterior 52
Pituitary stalk
interruption syndrome 74, 586
transaction syndrome 74
Pituitary thyroid-stimulating hormone-secreting adenoma 203
Placenta, role of 172
Placental fetal aromatase deficiency 269
Plasma 541
aldosterone 254
blood glucose, low 391
concentration 329
glucose 394
concentration 391
osmolality 275, 282
renin activity 218, 237, 310, 542, 548, 561
volume, regulation of 280
Plastic syringe 213
Platelet function assay 163
Pleiotropism 11
Plenadren 240
Pneumothorax 105
Polycystic ovarian
disease 154, 217, 485
morphology 148, 149
syndrome 9, 18, 148, 150, 154, 163, 227, 242, 456, 462, 484, 488
management of 150t
risk of 510
Polycythemia 383
Polydactyly 400
syndactyly-triphalangism group 92
Polydipsia 256, 415, 485
symptom of 433
Polyendocrinopathy syndrome, autoimmune 291, 353
Polyglandular autoimmune
disease 351
hypoparathyroidism 353
syndrome 196, 235, 238, 377, 378, 378f, 379
Polymenorrhea 162
Polymerase chain reaction 23
Polyostotic fibrous dysplasia 122, 365
Polyphagia 434
symptom of 433
Polyuria 30, 228, 256, 283, 289, 290fc, 315, 485
symptom of 433
Positron emission tomography scan 388, 581
Posterior pituitary bright spot 584
Potassium 306f, 311, 317
homeostasis 307
secretion, gastrointestinal 307
therapy 435
Potent hormone dihydrotestosterone 267
Prader classification 270f
Prader orchidometer 116f
Prader-Willi syndrome 61, 66, 76, 79, 81, 82, 86, 131, 485487, 606
Precocious puberty 30, 105, 107, 119, 122, 122t, 123f, 124f, 124t, 125t, 154, 192, 578f, 584, 587, 590f, 598f
causes of 588
central 119, 120, 124f, 125, 126, 231, 587, 588
disorders of 582
etiology of 121t
heterosexual 123f, 126f
idiopathic central 589
isosexual central 126f
normal variants of 120t
peripheral 119, 123f, 127, 128t, 587, 591f
Prednisolone 605
Pregnancy 150, 152
ectopic 152, 159
teenage 154
toxemia of 340
Prehypertension 483t
Prematurity
metabolic bone disease of 344, 369f
osteopenia of 344
Prenatal therapy 231
Prepubertal period, late 112
Prepubertal testes 120
Profuse foul smelling bloody discharge 154
Progestational agents 269
Progesterone 134, 164, 222
receptor 254
Prolactin levels 12
Prolactinoma 132
Prolyl hydroxylase domain protein 1 253
Pro-opiomelanocortin gene 236, 482
Propionic academia 384
Propranolol 204
Proprotein convertase subtilisin 473
Propylthiouracil 204, 603
Protein 426, 428
binding 9
deficiency 60
diets, high 426
kinase 243, 295
losing diarrhea 402
mitogen activated 11
serum 276
transport 7
tyrosine phosphatase 69
Prothrombin time 163, 182, 184
Proton
adenosine triphosphatase 300
potassium adenosine triphosphatase 300
Prototype disorders, common 469, 471
Proximal convoluted tubule 276, 279, 300, 303
Proximal phalanges 574, 575
Proximal tubular bicarbonate reabsorption 300
Pseudoachondroplasia 99
Pseudogynecomastia 146
Pseudohermaphrodite
female 268
male 268
Pseudohypoaldosteronism 19, 227, 309, 320, 321, 322
Pseudohypoparathyroidism 10, 60, 329, 340, 341, 351, 352
Pseudomyohypertrophy 192
Pseudopseudohypoparathyroidism 351
Pubarche
early 123f
premature 30, 120, 510
without thelarche 120
Pubertal changes 16
Pubertal induction 142t
Pubertal onset, timing of 112
Puberty 111, 112, 119, 130, 134
constitutional delay of 135, 136
early 128
growth, infancy childhood 51
physical changes of 114
sign of 36
Pubic hair 116f, 119, 120, 122, 157, 510
appearance of 111
development of 120, 122
reduced 236
stage 119
Pycnodysostosis 373
Pyelonephritis, chronic 296
Pyosalpinx 160
Pyruvate carboxylase deficiency 384, 566
Q
Quantification
lower limit of 545
upper limit of 545
Quantitative computed tomography 333
R
Rabson-Mendenhall syndrome 10, 459, 462
Rachitic rosary, appearance of 361f
Radioactive iodine uptake 186, 191
Radioiodine ablative therapy 204
Radiotherapy 131, 530
Raised serum alkaline phosphatase 360
Randomized controlled trial 141, 185
Rapid-acting insulin 427
analogs 417
Rathke's cysts 582
Rathke's pouch 266
Receiver operator characteristic curve 549f
Renal anomaly syndrome 352
Renal bicarbonate handling 300f
Renal cell carcinoma 253
Renal collecting duct 294
Renal disease
chronic 66
end-stage 66
Renal disorder 369
primary 60
Renal dysfunction 311, 449
Renal dysplasia 296, 351
Renal excretion 320
Renal failure 320, 321, 355, 393
chronic 79, 80, 296, 369, 606
Renal function tests 283
Renal insufficiency, chronic 340
Renal loss 309, 313, 316
Renal osteodystrophy 367
Renal outer medullary potassium defect 317
Renal potassium 300, 307
handling 307f
Renal sodium 279
handling 279f
loss 309
Renal tubular
acid handling 300f
acidosis 299, 302304, 316319, 354, 355, 373, 405
classification of 304
Renal ultrasound 133, 143
Renal vasculitis 217
Renal water
excretion 276
handling 276f
Renin-angiotensin-aldosterone
axis 215f
system 4, 251, 252fc, 277, 279281, 306, 307, 310, 316, 318
axis, disorders of 321t
defects 309, 321
excess 313, 316
Respiratory distress syndrome 181
Reticularis 211
Retinitis pigmentosa 405
Retinopathy 448, 450
predictors of 449
treatment of 449
Retroperitoneal mass 152
Reye syndrome 393
Rhabdomyolysis 306
Ribonucleic acid 21
Rickets 359, 405
changes of 369f
clinical
features of 361f
signs of 359f
congenital 345
hypophosphatemic 89, 355, 363, 363t, 365, 366
radiological signs of 359f
tumor-induced 366
Robinow syndrome 95
Roche-Wainer-Thissen methods 107
Rogers syndrome 403
Rokitansky-Küster syndrome 269
Rotavirus 190
Rubinstein-Taybi syndrome 88
Russell-Silver syndrome 60, 63, 86, 88
S
Saccharin 427
Salbutamol 322
Salicylate intoxication 393
Saline loading test 540
Saliva 541
Salivary cortisol, late night 244, 564
Salt 426
and pepper appearance 368
craving 236
intake 426t
wasting 228
crises 226
form 228
Sandwich immunoassay 543
Sanger sequencing 24
Sanjad-Sakati syndrome 351, 352
Sarcoidosis 156, 584
Sarcoma botryoides 157
Scapula, hypoplastic 99
Schmidt syndrome 235
School-going child, sample meal options for 431t
Schwann cell basement membrane 448
Scoliosis 83, 105
Seckel syndrome 88
Second generation pills, low dose 165
Secretagogues 19
Secrete luteinizing hormone 68
Secretory cell 3
Seizures 393
Selenium incorporation defects 180
Seminal fluid 111
Sensorineural deafness 351, 405
Sepsis 181, 340, 383, 393
Sertoli cell 111, 263
dysfunction 105
tumor 121
Serum calcium concentration, regulation of 328f
Serum cortisol 566
circadian rhythm 220
Serum glutamic pyruvic transaminase 283, 486
Sex cord 588
Sex determination 263
Sex development, XY disorders of 12
Sex hormone 120
binding globulin 7, 8, 145, 149
deficiency 106
effects of 114t
Sex steroids 7, 53, 231
high dose of 108
influence of 55
precursors of 224
Sexual abuse 152, 154, 155f, 157-159
gonorrhea confirm 154
Sexual characteristics, development of 30
Sexual development
disorders of 22, 225, 228, 267269, 272, 322, 582
embryology of 263
females 264t
males 264t
normal 263
physiology of 263
Sexual differentiation 263
abnormalities of 269
disorder of 156
embryology of 267
genetics of 267
process of 268f
Sexual maturity 30
rating 36, 114, 119
Sexually transmitted
disease 154, 167
infections 159
Shigella vaginitis 157
Short ACTH stimulation tests 219
Short bowel syndrome 79
Short chain
acyl-CoA dehydrogenase deficiency 384
hydroxylacyl-CoA dehydrogenase 393
Short limb disproportion 30
Short rib polydactyly syndromes 94
Short stature 56, 61, 62f, 67, 67f, 75, 485, 518
classification of 88fc
disproportionate 88
etiology of 63t
familial 57t, 58f, 63, 85
genetic causes of 85b
homeobox-containing gene 94
on X chromosome 138, 139
idiopathic 41, 61, 66, 76, 79, 82, 606
pathological 56
physiological 56
proportionate 88t
psychosocial 60
steroid induced 82
Short syndrome 88
SHOX gene
defects 79
haploinsufficiency 76
SHOX mutation 61, 62
Sick day management 421
Sickle cell
anemia 60
disease 369
Silver-Russell syndrome 508
Simpson-Golabi-Behmel syndrome 104
Single gene
defects 481
disorders 21
diagnosis of 22
Single nucleotide sequence 24
Single palpable gonad 271f
Sjögren's syndrome 235
Skeletal
abnormalities 89
deformities 139
dysplasia 61, 82, 85, 86f, 88, 89, 93fc, 94, 95, 97, 99, 101t, 102
lethal 99
number of 93
selected 96t, 99t
typical of 87
manifestations 138
mass 372
maturation 52
maturity
bone age for 37
score 573
survey 97t
Skin 96
examination 143
fold thickness 37
manifestations 140
pemphigus 217
pigmentation 239
problems 446
rash, eczematous 402
Skull-Wormian bones 370
Sleep 116
disorders 82
rhythm, abnormal 30
Slender bone dysplasias group 91
Slipped capital femoral epiphysis 83
Small for gestational age 41, 60, 63, 67, 120, 122, 128, 383, 395, 508, 511, 580, 606
Smith-Lemli-Opitz syndrome 216, 234, 235
Snoring 485
Sodium 314
bicarbonate 322
chloride 19
symporter defect 317
deficiency of 4f
deficit 312
homeostasis 306
iodide symporter 178, 179
load 313
loss 309, 310
Soft skull bones 361
Solitary nodule 196
Somatostatin 12, 412
receptor ligand 19
tone 53
Somatotroph 56
Somnolence 393
Sonic hedgehog pathway 71
Sotos syndrome 104, 105-107
Speech 393
Spermarche 111
Spermatozoa, appearance of 111
Spinal cord injury 369
Spine radiograph 81
Spironolactone 128, 146, 149, 150
Spondylodysplastic dysplasias, severe 90
Spondyloepimetaphyseal dysplasia 90, 92
Spondyloepiphyseal dysplasia 67, 405
tarda, pedigree of 93f
Spondylometaphyseal dysplasia 90, 92
Sporadic adenoma 355, 356
Squamous cell carcinoma 222, 223, 225
Squint 57
Standard deviation score 67
Standard dose short synacthen stimulation test 561, 562
Statins 475
Steatohepatitis, nonalcoholic 484
Stem cell transplant, hematopoietic 19
Stenosis, pulmonary 402
Stereotactic radiotherapy 529
Steroid 10, 56, 61
acute regulatory protein 222226, 231
hormones 7, 9, 213
use, prolonged 240
withdrawal syndrome 240
Steroidogenesis 213, 222f, 223, 225f
biochemical steps of 214f
cholesterol source for 224f
Steroidogenic
acute regulatory 321, 322
protein 235
cells 213
enzymes 223
pathway 223f, 224
Stimulation test 7
Stomach 3
Straight ribs 95f
Streptococcus pyogenes 155
Stress 190
dosage 230, 240t
strain index 335
Stroke like episodes syndrome 351, 462
Stupor 393
Succinate dehydrogenase 252, 253, 532
Sucralose 427
Sucrose 426
Sugar
alcohols 426
disorders 565
free food products 426
Sulfasalazine 253
Sulfonylurea 400
ingestion 393
treatment, trial of 404
Surrogate 7
Sweating 393, 421
Synacthen stimulation test 561
Syndrome of inappropriate antidiuretic hormone secretion 12, 276, 281284, 287, 288, 293, 307, 309
causes of 282t
management of 284
pathophysiology of 282
Synthetic long-acting somatostain analogs 530
Systemic lupus erythematosis 369
T
Table sugar 426
Tachycardia 393
Tachypnea 30
Tall stature 107
causes of 104
constitutional 104, 107
diagnostic assessment of 107fc
endocrine etiology of 105
etiology of 104
syndrome 104
Tamoxifen 128, 146
Tanner gonadal stages
female 115f
male 115f
Tanner stage 116f, 122, 127, 485, 586, 587
Tanner-Whitehouse method 123, 572, 573
Teeth 96
Tendon reflexes, deep 63
Teratoma 588
Teriparatide 606
Testicular enlargement 119
Testicular failure 131
Testicular regression 131
syndrome 131, 269
Testis 111, 535, 581
enlargement of 122
gland 6
secrete antimüllerian hormone 267
stromal tumors of 588
torsion of 131
undescended 581
Testolactone 128
Testosterone 7, 14, 104, 134, 530, 565
formulations 135t
serum 564
Testotoxicosis 20, 121, 128
Tetracosactrin 238
Tetralogy of Fallot 400
Thalassemia 23, 60, 351, 369, 517, 519, 521
management of 520
Thelarche 111, 120, 157, 591f
premature 30, 120
simple 125
Thermogenesis 16
Thiamine-responsive megaloblastic anemia 399, 403, 459, 462
Thioamide 603
Third generation pills, low dose 165
Thromboplastin time, active partial 163
Thymus, normal 592f
Thyroglobulin 175, 190
gene mutations 180
immunogenicity of 190
Thyroglossal duct cysts 197
Thyroid 13, 17, 18, 179t, 539, 581
adenoma 196, 197
antibody titers 196
autoimmunity 447
binding globulin 184
cancers 206, 207f
differentiated 206
incidence of 206
papillary 206
pediatric 206
TNM staging for 207t
carcinomas 196
cysts 197
disease 181, 195t
autoimmune 140, 190, 192, 235, 402, 405
disorders 178, 200, 258, 582, 603t
disturbance, transient 190
dysgenesis 178, 179
ectopia 197
fetal 172
follicular cell 180
function 172, 192
biochemical evaluation of 175, 176
maturation of 172
test 81, 133, 135, 136, 175, 176, 198, 205, 283
gland 5, 6, 171, 175, 590
hypofunctioning 603
hormone 11f, 13f, 52, 53, 69, 104, 173, 178, 189191, 203, 205
action defect 180
biosynthesis 173, 173f
metabolism 13f, 173
resistance 179
synthesis and metabolism, inborn errors of 179
imaging reporting and data system 593
infiltrative disease 197
lesion 249
acquired 593f
nodule 196, 206
palpable 198
normal 592f
painful 197
palpation 198
peroxidase 15, 178, 179, 540, 542
physiology 172
profile, measurement of 191
reactive antibodies 195
receptor defect 180
sonography 191
specific genes 190
stimulating hormone 4, 5, 12, 15, 17, 68, 107, 121, 163, 171, 172, 179, 180, 184, 186, 189, 192, 194, 197, 203, 283, 415, 447, 486, 539, 540542, 556, 557
receptor activating gene mutation 203
serum 258, 520
stimulates 175
stimulating immunoglobulin, maternal 182
storm 203
synthesis 173
transcription factor 178
ultrasound 198, 200, 203
Thyroidal enlargement, diffuse 194
Thyroidectomy 204
subtotal 190
Thyroiditis 8, 195
autoimmune 189, 196
chronic lymphocytic 190, 195
subacute 197
suppurative 197
Thyroperoxidase 190, 192
Thyrotoxic periodic paralysis 204
Thyrotoxicosis 10
Thyrotrope cells 172
Thyrotropin releasing hormone 4, 9, 5, 15, 68, 171, 172, 179, 181, 189, 192, 557
stimulation test 556
Thyroxime binding globulin 192
Thyroxine 6f, 175, 184, 283, 422
binding globulin 7
deficiency 181
replacement forms 127
Tinea unguium 353f
Toddler turner study 81
Total parenteral nutrition 344
Toxic adenoma 197, 202, 203
Toxic multinodular goiter 203
Toxic nodule 603
Toxic thyroiditis 197
Tranexa 164
Tranexamic acid 164
Transabdominal ultrasound 153
Transglutaminase, serum 422
Transient hypothyroxinemia, causes of 181
Transiliac bone biopsy 334
Transmembrane channels, genes regulating 403
Transport proteins, conditions affecting 9t
Transsphenoidal surgery 106, 247, 530
Transthyretin 8
Transtubular potassium gradient 321
Trauma 131, 288
blunt 157
penetrative 157
vulvar 154, 158
Tremors 421
Trichorhinophalangeal syndrome 95
Tricyclic antidepressants 253
Triglyceride 449, 464, 471, 472
concentrations 448
high 474
normal serum 449
Triiodothyronine 175, 258, 548
Triple X syndrome 131
Triptorelin 164, 604
Tuber cinereum 584
hamartoma of 588
Tuberculosis 152, 156, 235, 238, 584
Tubo-ovarian abscess 159
Tubular uterus 587f
Tubulopathy 316
Tumors 71, 581
adrenocortical 530, 531
gastrointestinal stromal 253
growth factor-β 101
intracranial 61, 128
neuroblastic 533
pituitary 132, 248
testicular 121, 127, 249
Turner's syndrome 21, 22, 40, 60, 61, 63, 66, 75, 79, 81, 86, 131133, 138, 138t, 140, 140t, 142t, 143, 196, 268, 332, 369, 606
clinical manifestations of 139t
diagnosis of 141t
Twenty-four-hour urinary free cortisol 220
Tyrosine kinase receptors 9, 10
Tyrosinemia 384
U
Ulcers 154
Ulna 575
Ultrasonography 127, 149, 158160, 185 186, 532, 581
Union for International Cancer Control 207
United Kingdom Children's Cancer Study Group 529, 531
Urea 311
Urethral meatus 156f
Uric acid 310
Urinary albumin
excretion 448
normal 448
Urinary anion gap 302
Urinary calcium 317
Urinary concentration 317
Urinary free cortisol 8, 245
measurement 564
Urinary infections 157
Urinary iodine estimation 176
Urinary loss 308
Urinary organic acid 395
Urinary osmolal gap 302
Urinary sodium 310, 311, 313
Urinary steroid
elevated 530
metabolites 561
Urinary system 139
congenital 139
Urinary tract
dysfunction 462
infection 152
Urine 541
calcium 354
ketones 566
metanephrine assay, drugs affecting 253t
microalbumin 422
osmolality 280, 313
sodium 283
Uropathy, obstructive 296
Uterine
bleeding, abnormal 154, 159, 160, 162, 162t, 163t
length 588t
malignancy 164
maturation, estrogen-mediated 590
morphology 587
pathology 581
size 124, 166f
transplant 166
Uterus 161
V
Vagina
mixed müllerian tumors of 157
partial visualization of 153f
Vaginal bleeding 122, 153, 154, 157
etiology of 157t
Vaginal discharge 153
Vaginal foreign body 154, 157
Vaginal mucosa, estrogenization of 122
Vaginal reconstruction 166
Vaginal swab 155
Vaginal tumor 157
Vaginitis 454
Vaginoscopy 155
indications of 153t
Valgus 361
Van Wyk Grumbach syndrome 123, 127, 160
Vanillylmandelic acid 532
Varus 361
Vascular endothelial growth factor 449, 450
Vascular endothelium cells 469
Vasopressin 280, 291, 292
analogs, dose of 292t
preparations 291t
Verapamil 146
Verma-Naumoff syndrome 89
Vesicoureteral reflux 400
Viral infection 190, 519
Vision, loss of 369
Visual disturbances 83
Visual impairment 402
Visual prognosis 449
Vitamin 426
D 8, 10, 328f, 350, 362, 606
cutaneous synthesis of 329f
deficiency 12, 340, 360, 362, 363, 363t, 369
metabolism of 327, 329, 330, 330b
prevention of 331t
treatment of 361t
D2 606
D3 606
K deficiency 594
Vitiligo 190, 235
Voice, deepening of 122
Vomiting 236, 275, 546
von Hippel-Lindau
disease 527
syndrome 532
von Willebrand
disease 163
factor 163
von-Gierke disease 403
Vulva, atrophic dermatitis of 154
Vulval inspection 153f
Vulvovaginal discharge 154
Vulvovaginal discomfort 154
causes of 154t
Vulvovaginal trauma 158
Vulvovaginitis 152, 154, 155, 155f, 157
diagnosis of 155
nonspecific 155b
recurrent 154
W
Waist circumference 37
curves 496fc
Warts 156
Water deprivation test 289, 540, 558
Waterhouse-Friderichsen syndrome 235
Weaver syndrome 104
Whipple's triad 391
Whitaker's syndrome 235
William syndrome 86, 342, 343
Wilms tumor 266, 267
Wilson's disease 304, 351, 353
Wolcott-Rallison syndrome 402
Wolf-Chaikoff effect 181
Wolfram syndrome 287, 459, 462
Wolman's disease 234, 235
Wormian bones 370f
Xanthomas 472fc
X
X-linked hypophosphatemic rickets 363, 364f
XXX syndrome 131
Y
Yersinia 190
infections 190
Z
Zellweger syndrome 237
Zinc
insulin 412
oxide 155
transporter 415
Zoledronate 606
Zoledronic acid dosage table 371t
Zona fasciculata 211213
Zona glomerulosa 211, 212
Zona reticularis 211, 212
×
Chapter Notes

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IAP Textbook on PEDIATRIC ENDOCRINOLOGY
IAP Textbook on PEDIATRIC ENDOCRINOLOGY
Editor-in-Chief Vaman Khadilkar MD MRCP (UK) DCH (London) Senior Pediatric Endocrinologist Jehangir Hospital, Pune and Bombay Hospital, Mumbai Department of Health Sciences Savitribai Phule Pune University Pune, Maharashtra, India Associate Editors Anurag Bajpai MD FRACP SCE Senior Consultant Regency Center for Diabetes Endocrinology and Research Kanpur, Uttar Pradesh, India Fortis Memorial Research Institute Gurugram, Haryana, India Hemchand K Prasad MD (Ped) PDCC (Ped Endo) Fellow (Ped Endo, UK) Fellow (Ped Diabetes, USA) Consultant Department of Pediatric Endocrinology and Diabetes Mehta Hospital Chennai, Tamil Nadu, India Foreword Santosh T Soans Digant D Shastri
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IAP Textbook on Pediatric Endocrinology
First Edition: 2019
9789352709052
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Contributors Foreword
Endocrine system plays a critical role in physical and mental development, especially during the delicate antenatal and postnatal period as well as during adolescence. During these periods, the body undergoes major transformations in its journey from fetus to adult. Where any problem is detected, timely treatment is essential to gain better control over its progression. Hence, the practising pediatrician should be well equipped with knowledge regarding the endocrinal issues that normally affect children. This textbook of pediatric endocrinology introduces the students of pediatrics, be it undergraduate, postgraduate or DM to this vast subject with depth and clarity. This is the first textbook in the field of endocrinology to be specially commissioned by the Indian Academy of Pediatrics (IAP) and it reflects the growing importance of this field in general practice.
First and foremost, I wish to congratulate Dr Vaman Khadilkar who took on this project almost single handed and has been able to bring out the book within the time limit which is highly appreciable. I also thank Dr Anurag Bajpai and Dr Hemchand K Prasad for taking up the onerous task of compiling this book and enthusiastically pursuing this project to fruition. They have envisioned a comprehensive coverage of endocrinology in this book with Indian focus and perspective in mind. I am also glad to see that a large number of experts in this field have contributed chapters and made this into a genuine team effort.
An organization can thrive only when it is focused on its core purpose. I have spent the better part of my presidential tenure to renew IAP's focus on academics. The IAP has a long-standing track record of outstanding academic activity. The IAP Endocrinology Chapter has been at the forefront in bringing out various guidelines and growth charts which are known throughout the globe. The IAP can be reinvigorated only when we continue to produce academic output of excellent quality. This textbook is a step forward in that direction. I wish to convey the academy's gratitude to all those who have been involved in this effort, chiefly the editors and contributors for giving life to IAP's vision for emerging as a professional organization of repute.
I wish the reader a fruitful reading experience.
Santosh T Soans
President
Indian Academy of Pediatrics
Foreword
It gives me sense of honor and pleasure to write the Foreword for the IAP Textbook on Pediatric Endocrinology.
In earlier time in India, there was a handful of institutions where children with endocrine problems were managed and probably for getting trained in this subspecialty, one had to go out of country. But, in the last few years, pediatric endocrinology has emerged as an important subspecialty with many institutions not only offering treatment to children with endocrine problems but also train students in this subspecialty. In view of country-specific medical problems and difficulties associated with its management within the available resources, it will be imperative to have a textbook written by local experts who not only know the problems but also have developed alternative indigenous management system.
Keeping this in mind, the Indian Academy of Pediatrics (IAP) decided to come out with the first ever edition of IAP Textbook on Pediatric Endocrinology, which will be useful to pediatric endocrine trainees as well as to practicing pediatricians. The text will surely prove to be useful to DM endocrine students who have special interest in pediatric endocrinology.
The book covers almost all aspects of pediatric endocrinology, growth disorders and diabetes in children. This book is enriched with flowcharts, diagrams, photographs and guidelines.
My sincere compliments and congratulations to all the authors, who as a part of their sincere efforts to disseminate the knowledge have contributed chapters for this prestigious publication. I congratulate the entire editorial board lead by Dr Vaman Khadilkar, Dr Anurag Bajpai and Dr Hemchand K Prasad, for their untiring efforts to bring out this book.
I am sure that this book will be popular amongst the postgraduate students, teaching faculties as well as practicing pediatricians. I wish this landmark publication great success.
Digant D Shastri
President
Indian Academy of Pediatrics, 2019
Preface
Pediatric endocrinology has taken major strides in the last few years in our country and many institutions have started fellowship training courses in pediatric endocrinology in the last decade. Keeping this in mind, the Indian Academy of Pediatrics (IAP) decided to have a Textbook on Pediatric Endocrinology for the first time this year which will be of use to pediatric endocrine trainees as well as to practicing pediatricians. The text will also be useful to DM endocrine students who have special interest in pediatric endocrinology. Postgraduates in pediatric training will also benefit from the basics written at the beginning of each chapter. Although there are many books written in the recent times on pediatric endocrinology in India, this text is specifically written with the perspective of pediatric endocrinology practice in India and the chapters include many protocols in pediatric endocrinology published by the Indian Academy of Pediatrics. This textbook also includes dynamic endocrine stimulation tests and synopsis of commonly used drugs in pediatric endocrinology. At the end of each chapter, there is a comprehensive bibliography to expand readers’ knowledge beyond this book.
The book covers almost all aspects of pediatric endocrinology, growth disorders and diabetes in children. This book is enriched with flowcharts, diagrams, photographs and guidelines.
Vaman Khadilkar
Anurag Bajpai
Hemchand K Prasad
Acknowledgments
The journey of writing this book has given us great opportunity to learn, interact with colleagues and friends from India and abroad and we are very grateful to all the contributors who have tended the midnight wick to complete their responsibilities despite very tight timelines. Finally, we would like to thank Shri Jitendar P Vij (Group Chairman), Mr Ankit Vij (Managing Director), Mr MS Mani (Group President), and the staff of M/s Jaypee Brothers Medical Publishers (P) Ltd, New Delhi, India, who have worked endlessly to take this work to completion in a very able and professional manner.