Growth Hormone Therapy in Children with Prader-Willi Syndrome
Prader-Willi syndrome (PWS), initially described by Prader, Willi, and Labhart in 1956, is characterized by obesity, hypotonia, hyperphagia, delayed motor skill acquisition, short stature, mental retardation, hypothalamic dysfunction, and hypogonadism. Th
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Growth Hormone Therapy in Children with Prader-Willi Syndrome Aaron Carrel and David B. Allen
Abstract
Prader-Willi syndrome (PWS), initially described by Prader, Willi, and Labhart in 1956, is characterized by obesity, hypotonia, hyperphagia, delayed motor skill acquisition, short stature, mental retardation, hypothalamic dysfunction, and hypogonadism. This article reviews current knowledge regarding causes of and potential treatments for impaired growth, body composition, and physical function observed in children with PWS. Growth failure due to PWS has become an approved indication for growth hormone (GH) therapy. However, treatment of these children has raised awareness of other potential benefits of GH therapy, which in this particular group of patients may exceed linear growth promotion in importance. These include improvements in body composition, which leads to improved physical strength and function and increased energy expenditure. Keywords
Prader-Willi syndrome • Growth hormone • Body composition • Strength
Introduction
A. Carrel, M.D. (*) Department of Pediatrics, University of Wisconsin American Family Children’s Hospital, 600 Highland Ave., H4-436, Madison, WI 53792, USA e-mail: [email protected] D.B. Allen, M.D. Pediatrics, University of Wisconsin School of Medicine and Public Health, University of American Family Children’s Hospital, Madison, WI, USA e-mail: [email protected]
Prader-Willi syndrome (PWS), initially described by Prader, Willi, and Labhart in 1956, is characterized by obesity, hypotonia, hyperphagia, delayed motor skill acquisition, short stature, mental retardation, hypothalamic dysfunction, and hypogonadism [1]. The genetic abnormality has been located on chromosome 15 (q11–13), a deletion of the paternal allele or presence of maternal disomy; a critical region of chromosome 15 is active only in the paternally inherited chromosome. Thus, PWS was the first human disorder associated with imprinting [2, 3]. It is
S. Radovick and M.H. MacGillivray (eds.), Pediatric Endocrinology: A Practical Clinical Guide, Second Edition, Contemporary Endocrinology, DOI 10.1007/978-1-60761-395-4_6, © Springer Science+Business Media New York 2013
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now known that approximately 70–75% of cases of PWS are associated with absent expression of the paternal allele in the PWS region of chromosome 15q11–13. Approximately 25% of cases involve uniparental disomy, in which an individual inherits two copies of the maternal chromosome 15 and none of the paternal copy. Rare cases involve translocations, molecular defects, or errors of the imprinting center. Although several genes and gene products of the PWS region of chromosome 15q11–13 have been identified, the specific genes involved in the pathogenesis are not completely understood [4]. With an incidence of 1 in every 12,000 births, PWS is the most common syndrome causing marked obesity. Many features of PWS suggest hypothalamic dysfunction, some with endocrine implications including the following: short stature, hyperphagia, sleep disorders, defic
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