Prader-Willi Syndrome: Effects of Human Growth Hormone Treatment

by Eiholzer, Urs

• ISBN13: 9783805572569
• ISBN10: 3805572565
• Edition: 1st
• Format: Hardcover
• Copyright: 2001-06-01
• Publisher: KARGER, S. PUBLISHERS INC

Summary

Over the past years, great advances have been made in the research of Prader-Willi Syndrome and its treatment options. The results raise hopes that the once depressing outlook for children with PWS and their parents will gradually give way to a much improved quality of life. Clinical research has shown that there is a hypothalamic growth hormone deficiency in PWS and that growth hormone treatment improves body composition, body proportions and physical performance of patients. Increased lean body mass enhances energy expenditure and provided the energy input can be restrained children no longer become obese. The disappearance of the obese phenotype in children with PWS who are treated with growth hormone starting before puberty prevents stigmatisation of children and their families in society. The mental retardation and the compulsive behavior disorder will however remain major handicaps which seemingly cannot be influenced by growth hormone therapy. This book provides an overview of the clinical research results as to hormones and metabolism of PWS with special emphasis on growth hormone and growth hormone treatment. Besides the outstanding scientific texts, this volume offers comprehensive photographic material to document the development of selected patients over several years and to illustrate extreme individual changes in the physical appearance and facial expression.

Table of Contents

Foreword
Foreword
Preface
Acknowledgements
Fundamental Issues	p. 1
First Description by Andrea Prader, Alexis Labhart and Heinrich Willi in 1956 in Zurich	p. 1
Age-Dependent Clinical Characteristics	p. 2
Infant Phase	p. 2
Childhood Phase	p. 3
Adolescence	p. 4
Growth and Pubertal Development	p. 6
Genetic Issues	p. 9
The Hypothalamus	p. 10
Function of the Hypothalamo-Pituitary Axes in PWS	p. 12
The Growth Hormone Axis	p. 12
The Gonadal Axis	p. 14
The Thyroid Axis	p. 16
The Adrenal Axis	p. 17
Metabolism in PWS	p. 18
Carbohydrate Metabolism	p. 18
Lipid Metabolism	p. 19
Energy Balance in PWS	p. 19
Influence of Growth Hormone on Phenotype	p. 20
Introduction	p. 20
Early Experiences with Growth Hormone Treatment in PWS	p. 20
Pathogenetic Explanations at the Beginning of the 1990s	p. 20
Our Aims in PWS Research	p. 21
Design of Our Study	p. 23
Results of the Different Growth Hormone Studies	p. 25
Growth	p. 25
Weight and Body Composition	p. 32
IGF-I System	p. 38
Leptin	p. 42
Carbohydrate Metabolism	p. 43
Lipid Metabolism	p. 49
Nutrition and Variables Influencing Body Weight	p. 51
Psychomotor Development and Physical Capability	p. 55
Photographic Documentation of Selected Patients	p. 57
Discussion	p. 76
Do Spontaneous Growth and Weight Gain is Swiss Children with PWS Differ from Those in Other Regions?	p. 77
Is Abnormal Growth Caused by GHD and Can It Be Normalized by Growth Hormone Therapy?	p. 78
Diagnostics to Ascertain GHD in PWS	p. 78
Spontaneous Growth Pattern	p. 79
Catch-Up Growth during GH Therapy	p. 79
Is Body Composition Related to Potential Growth Hormone Deficiency?	p. 81
Altered Body Composition before Treatment	p. 81
Body Composition during GH Treatment	p. 81
Does Growth Hormone Therapy Improve Psychomotor Development, Physical Capability and General Well-Being?	p. 83
How Are Weight and Energy Balance Influenced by Educational Behavior or Genetic Disposition?	p. 84
How Are Lipid and Carbohydrate Metabolism and Insulin Secretion Regulated?	p. 85
Is There a Dysfunction of the Leptin System?	p. 86
How to Diagnose GHD in PWS Efficiently, and How to Assess the Success of GH Therapy within a Framework of Comprehensive Care	p. 87
Conclusion	p. 89
Clinical Diagnostic Criteria for Prader-Willi Syndrome	p. 92
Consensus Statement - Prader-Willi Syndrome: Growth Hormone (GH)/Insulin-Like Growth Factor Axis Deficiency and GH Treatment	p. 93
Recommendations for Management of Children with Prader-Willi Syndrome under Growth Hormone Treatment	p. 98
References	p. 101
Subject Index	p. 116
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