Prader-Willi syndrome: an update on obesity and endocrine problems
Prader-Willi syndrome (PWS) is a rare complex genetic disorder that results from a lack of expression of the paternally inherited chromosome 15q11-q13. PWS is characterized by hypotonia and feeding difficulty in early infancy and development of morbid obesity aggravated by uncontrolled hyperphagia a...
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| Format: | Article |
| Language: | English |
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Korean Society of Pediatric Endocrinology
2021-12-01
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| Series: | Annals of Pediatric Endocrinology & Metabolism |
| Subjects: | |
| Online Access: | http://e-apem.org/upload/pdf/apem-2142164-082.pdf |
| _version_ | 1818942581563719680 |
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| author | Su Jin Kim Sung Yoon Cho Dong-Kyu Jin |
| author_facet | Su Jin Kim Sung Yoon Cho Dong-Kyu Jin |
| author_sort | Su Jin Kim |
| collection | DOAJ |
| description | Prader-Willi syndrome (PWS) is a rare complex genetic disorder that results from a lack of expression of the paternally inherited chromosome 15q11-q13. PWS is characterized by hypotonia and feeding difficulty in early infancy and development of morbid obesity aggravated by uncontrolled hyperphagia after childhood and adolescent. Dysmorphic facial features, delayed motor and language development, various degrees of cognitive impairment, and behavioral problems are common in PWS. Without early, intensive nutritional therapy along with behavioral modification, PWS patients develop severe obesity associated with type 2 diabetes, obstructive sleep apnea, right-side heart failure, and other obesity-related metabolic complications. Hypothalamic dysfunction in PWS can lead to several endocrine disorders, including short stature with growth hormone deficiency, hypothyroidism, central adrenal insufficiency, and hypogonadism. In this review, we discuss the natural history of PWS and the mechanisms of hyperphagia and obesity. We also provide an update on obesity treatments and recommendations for screening and monitoring of various endocrine problems that can occur in PWS. |
| first_indexed | 2024-12-20T07:13:43Z |
| format | Article |
| id | doaj.art-677f80092c9a446ea9d5c4c4bc13bc2a |
| institution | Directory Open Access Journal |
| issn | 2287-1012 2287-1292 |
| language | English |
| last_indexed | 2024-12-20T07:13:43Z |
| publishDate | 2021-12-01 |
| publisher | Korean Society of Pediatric Endocrinology |
| record_format | Article |
| series | Annals of Pediatric Endocrinology & Metabolism |
| spelling | doaj.art-677f80092c9a446ea9d5c4c4bc13bc2a2022-12-21T19:48:50ZengKorean Society of Pediatric EndocrinologyAnnals of Pediatric Endocrinology & Metabolism2287-10122287-12922021-12-0126422723610.6065/apem.2142164.082907Prader-Willi syndrome: an update on obesity and endocrine problemsSu Jin Kim0Sung Yoon Cho1Dong-Kyu Jin2 Department of Pediatrics, Inha University Hospital, Inha University College of Medicine, Incheon, Korea Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, KoreaPrader-Willi syndrome (PWS) is a rare complex genetic disorder that results from a lack of expression of the paternally inherited chromosome 15q11-q13. PWS is characterized by hypotonia and feeding difficulty in early infancy and development of morbid obesity aggravated by uncontrolled hyperphagia after childhood and adolescent. Dysmorphic facial features, delayed motor and language development, various degrees of cognitive impairment, and behavioral problems are common in PWS. Without early, intensive nutritional therapy along with behavioral modification, PWS patients develop severe obesity associated with type 2 diabetes, obstructive sleep apnea, right-side heart failure, and other obesity-related metabolic complications. Hypothalamic dysfunction in PWS can lead to several endocrine disorders, including short stature with growth hormone deficiency, hypothyroidism, central adrenal insufficiency, and hypogonadism. In this review, we discuss the natural history of PWS and the mechanisms of hyperphagia and obesity. We also provide an update on obesity treatments and recommendations for screening and monitoring of various endocrine problems that can occur in PWS.http://e-apem.org/upload/pdf/apem-2142164-082.pdfprader-willi syndromeobesityendocrine system diseasehypothalamic dysfunction |
| spellingShingle | Su Jin Kim Sung Yoon Cho Dong-Kyu Jin Prader-Willi syndrome: an update on obesity and endocrine problems Annals of Pediatric Endocrinology & Metabolism prader-willi syndrome obesity endocrine system disease hypothalamic dysfunction |
| title | Prader-Willi syndrome: an update on obesity and endocrine problems |
| title_full | Prader-Willi syndrome: an update on obesity and endocrine problems |
| title_fullStr | Prader-Willi syndrome: an update on obesity and endocrine problems |
| title_full_unstemmed | Prader-Willi syndrome: an update on obesity and endocrine problems |
| title_short | Prader-Willi syndrome: an update on obesity and endocrine problems |
| title_sort | prader willi syndrome an update on obesity and endocrine problems |
| topic | prader-willi syndrome obesity endocrine system disease hypothalamic dysfunction |
| url | http://e-apem.org/upload/pdf/apem-2142164-082.pdf |
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