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

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 o...

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Main Author:	Jin, Dong-Kyu
Format:	Online
Language:	English
Published:	The Korean Pediatric Society 2012
Online Access:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3405154/

id	pubmed-3405154
recordtype	oai_dc
spelling	pubmed-34051542012-07-27 Endocrine problems in children with Prader-Willi syndrome: special review on associated genetic aspects and early growth hormone treatment Jin, Dong-Kyu Review Article 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. The Korean Pediatric Society 2012-07 2012-07-17 /pmc/articles/PMC3405154/ /pubmed/22844316 http://dx.doi.org/10.3345/kjp.2012.55.7.224 Text en Copyright © 2012 by The Korean Pediatric Society http://creativecommons.org/licenses/by-nc/3.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
repository_type	Open Access Journal
institution_category	Foreign Institution
institution	US National Center for Biotechnology Information
building	NCBI PubMed
collection	Online Access
language	English
format	Online
author	Jin, Dong-Kyu
spellingShingle	Jin, Dong-Kyu Endocrine problems in children with Prader-Willi syndrome: special review on associated genetic aspects and early growth hormone treatment
author_facet	Jin, Dong-Kyu
author_sort	Jin, Dong-Kyu
title	Endocrine problems in children with Prader-Willi syndrome: special review on associated genetic aspects and early growth hormone treatment
title_short	Endocrine problems in children with Prader-Willi syndrome: special review on associated genetic aspects and early growth hormone treatment
title_full	Endocrine problems in children with Prader-Willi syndrome: special review on associated genetic aspects and early growth hormone treatment
title_fullStr	Endocrine problems in children with Prader-Willi syndrome: special review on associated genetic aspects and early growth hormone treatment
title_full_unstemmed	Endocrine problems in children with Prader-Willi syndrome: special review on associated genetic aspects and early growth hormone treatment
title_sort	endocrine problems in children with prader-willi syndrome: special review on associated genetic aspects and early growth hormone treatment
description	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.
publisher	The Korean Pediatric Society
publishDate	2012
url	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3405154/
_version_	1611545575450214400

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

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