Korean J Pediatr.  2012 Jul;55(7):224-231. 10.3345/kjp.2012.55.7.224.

Endocrine problems in children with Prader-Willi syndrome: special review on associated genetic aspects and early growth hormone treatment

• Jin DK

• KMID: 1433735
• DOI: http://doi.org/10.3345/kjp.2012.55.7.224

Abstract

Prader-Willi syndrome (PWS) is a complex multisystem genetic disorder characterized by hypothalamic-pituitary dysfunction. The main clinical features include neonatal hypotonia, distinctive facial features, overall developmental delay, and poor growth in infancy, followed by overeating with severe obesity, short stature, and hypogonadism later in development. This paper reviews recent updates regarding the genetic aspects of this disorder. Three mechanisms (paternal deletion, maternal disomy, and deficient imprinting) are recognized. Maternal disomy can arise because of 4 possible mechanisms: trisomy rescue (TR), gamete complementation (GC), monosomy rescue (MR), and postfertilization mitotic nondisjunction (Mit). Recently, TR/GC caused by nondisjunction at maternal meiosis 1 has been identified increasingly, as a result of advanced maternal childbearing age in Korea. We verified that the d3 allele increases the responsiveness of the growth hormone (GH) receptor to endogenous GH. This paper also provides an overview of endocrine dysfunctions in children with PWS, including GH deficiency, obesity, sexual development, hypothyroidism, and adrenal insufficiency, as well as the effects of GH treatment. GH treatment coupled with a strictly controlled diet during early childhood may help to reduce obesity, improve neurodevelopment, and increase muscle mass. A more active approach to correct these hormone deficiencies would benefit patients with PWS.

Keyword

Prader-Willi syndrome; Genetics; Endocrine; Growth hormone deficiency; Obesity; Hypogonadism

MeSH Terms

Adrenal Insufficiency
Alleles
Child
Chromosome Disorders
Complement System Proteins
Diet
Growth Hormone
Humans
Hyperphagia
Hypogonadism
Hypothyroidism
Korea
Meiosis
Monosomy
Mosaicism
Muscle Hypotonia
Muscles
Obesity
Prader-Willi Syndrome
Sexual Development
Trisomy
Chromosome Disorders
Complement System Proteins
Growth Hormone
Mosaicism