Laron Syndrome - From Man to Mouse (eBook)

Lessons from Clinical and Experimental Experience

Zvi Laron, J. Kopchick (Herausgeber)

eBook Download: PDF

2010 | 2011
XIV, 531 Seiten
Springer Berlin (Verlag)
978-3-642-11183-9 (ISBN)

Infos

Laron syndrome (LS), or primary growth hormone (GH) insensitivity, was first described in 1966. Since then, many patients worldwide have been diagnosed with LS, which involves defects in the GH receptor that cause combined congenital deficiency of GH and IGF-I activities. In this comprehensive book the authors draw upon 50 years of multidisciplinary clinical and investigative follow-up of the large Israeli cohort of LS patients. The genetic basis of the syndrome is fully considered, and all aspects of the pathophysiology of IGF-I deficiency are described. Data derived from the recently generated mouse model of LS are reviewed and compared with the human LS experience. Valuable advice is provided on treatment, and treatment effects, such as metabolic effects, adipose tissue alterations, and impact on aging, are fully explored. Together, this book condenses, consolidates, compares, and contrasts data derived from the human and mouse LS experiences and provides a unique resource for clinical and basic scientists to evaluate and compare IGF-I and GH actions.

Inhalt

Preface 6
Contents 8
Part I Clinical Aspects 14
History of the Israeli Cohort of Laron Syndrome Patients ( 1958– 2009) 15
Early Investigations: Characterizations of the Circulating Growth Hormone 20
Clinical Evidence of Growth Hormone Resistance in Patients with Laron Syndrome 31
Diagnosis of Laron Syndrome 36
Genetic Aspects 38
Clinical Evaluation 62
Perinatal Development in Laron Syndrome 67
Linear Growth Pattern of Untreated Laron Syndrome Patients 71
Head Shape, Size, and Growth of Untreated Patients with Laron Syndrome 98
Sexual Development in Patients with Laron Syndrome 108
Sex Hormone Binding Proteins and Sex Hormones in Untreated and IGF- I Treated Patients with Laron Syndrome 126
The Adipose Tissue in Patients with Laron Syndrome 131
Investigations to Determine the Cause of Obesity in Patients with Laron Syndrome 141
Nonalcoholic Fatty Liver Disease ( Nafld) in Patients with Laron Syndrome 149
Serum Lipids in Patients with Laron Syndrome 154
Adiponectin and Leptin in Laron Syndrome 161
Muscle Force and Endurance in Untreated Adult and IGF- I Treated Children with LaronSyndrome 165
Bone Mineral Density in Untreated and IGF- I or Alendronate- Treated Patients with Laron Syndrome 169
Muscle–Bone Relationship in Patients with Laron Syndrome 174
Imaging Findings in Laron Syndrome 178
Ocular Findings in Laron Syndrome 203
Hearing in Patients with Laron Syndrome 211
The Teeth in Patients with Laron Syndrome 215
Hair, Skin, and Nails in Patients with Laron Syndrome 220
Hand, Foot, and Organ Size and Growth in Untreated and IGF- I Treated Patients with Laron Syndrome 228
Lifelong Serum Growth Hormone Levels in Patients with Laron Syndrome 236
IGF-I Binding Proteins in Laron Syndrome 241
Serum Prolactin in Untreated and IGF-I Treated Patients with Laron Syndrome 246
Thyroid Hormones in Untreated and IGF- I Treated Patients with Laron Syndrome 254
Insulin Secretion and Carbohydrate Metabolism in Patients with Laron Syndrome: From Hypoglycemia to Diabetes Mellitus 258
Liver Enzymes in Patients with Laron Syndrome 272
The Hematopoietic System in Patients with Laron Syndrome 281
Cardiovascular Aspects in Laron Syndrome Patients 290
Kidney Functions in Untreated and IGF- I Treated Patients with Laron Syndrome 303
Sleep and Sleep Disorders in Patients with Laron Syndrome 312
Neurological Aspects in Laron Syndrome 316
Orthopedic Problems in Laron Syndrome 318
Psychological Aspects in Patients with Laron Syndrome 320
Adjustment and Rehabilitation Problems of Children, Adolescents, and Adults with Laron Syndrome 329
Laron Syndrome Patients with Congenital IGF- I Deficiency Seem Protected from Malignant Diseases 332
Lifespan and Mortality of Patients with Laron Syndrome 334
IGF-I Treatment of Patients with Laron Syndrome 336
IGF-I Stimulation of Head Growth in Patients with Laron Syndrome 374
Effects of Long-Term Administration of IGF- I on the Adipose Tissue and Carbohydrate Metabolism in Children with Laron Syndrome 381
Comparison of the Growth Promoting Response of IGF- I in Children with Laron Syndrome with that of hGH in Children with Isolated GH Deficiency 401
IGF-I Treatment of Adult Patients with Laron Syndrome 404
Adverse Effects Encountered During IGF- I Treatment of Patients with Laron Syndrome 410
Summary of the Clinical History: The Laron Syndrome Clock 416
Part II The Growth Hormone Receptor “ Null” Mouse or the Laron Mouse 418
The Laron Mouse 419
Role of GH/IGF-I Deficiency in Aging 423
Body Composition, Adipose Tissue, and Energy Balance 431
Metabolism and Metabolic Regulation 440
Skeletal Muscle 453
Cardiac Function in GHR-/- Mice 460
Bone 467
GHR Knockout and the CNS 474
Cancer 479
Reproduction 490
Conclusions and Future Studies 496
Index 508

Produkt-Details

• Erscheint lt. Verlag: 25.11.2010
• Zusatzinfo: XIV, 531 p.
• Verlagsort: Berlin
• Sprache: englisch
• Themenwelt: Medizin / Pharmazie ► Medizinische Fachgebiete ► Innere Medizin
• Themenwelt: Studium ► 2. Studienabschnitt (Klinik) ► Humangenetik
• Themenwelt: Naturwissenschaften ► Biologie
• Themenwelt: Technik
• Schlagworte: Effects on Aging • GH inactivity • GH insensitivity • GH receptor gene disruption • GH resistance • IGF-treatment • Laron Syndrome • Metabolic Effects
• ISBN-10: 3-642-11183-1 / 3642111831
• ISBN-13: 978-3-642-11183-9 / 9783642111839