Vol 57: Prader-Willi syndrome: a single centers experience in Korea.Reportar como inadecuado



 Vol 57: Prader-Willi syndrome: a single centers experience in Korea.


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This article is from Korean Journal of Pediatrics, volume 57.AbstractPurpose: Prader-Willi syndrome PWS is a complex genetic disorder that results from the lack of paternally expressed genes in the chromosome 15q11-q13 region. This study was performed to delineate the clinical features of PWS infants and toddlers and the effects of two-year growth hormone GH treatment according to gender and age at the start of treatment. Methods: The clinical characteristics and the results of the GH treatment were reviewed retrospectively for 30 PWS patients diagnosed by molecular genetic testing and clinical manifestations. Results: The mean age at diagnosis with PWS was 13.7 months 2-47 months of age. All patients showed the characteristics of facial dysmorphism, including brown hair and almond-shaped eyes. Most patients showed developmental delays-mental retardation 93.3%, cryptorchidism 75%, feeding problems in infancy 73.3%, and neonatal or infantile hypotonia 66.7%. Among 30 patients, 14 PWS infants and toddlers had been treated with GH for more than two years. Two years of GH treatment resulted in an improvement in head circumference-standard deviation score HC-SDS, body weight-SDS, insulin-like growth factor-1 IGF-1 SDS, IGF binding protein-3 IGFBP-3 SDS, lean body mass, and bone mineral content, especially in IGFBP-3 SDS and motor development in PWS patients younger than two years of age. There was significant increase in IGF-1 SDS and IGFBP-3 SDS among male PWS patients after GH treatment. Conclusion: Our study showed increases in IGFBP-3 SDS and an improvement in motor development among individuals under two years of age after GH treatment, and significant difference in IGF-1 SDS and IGFBP-3 SDS by gender.



Autor: Kim, Yea Ji; Cheon, Chong Kun

Fuente: https://archive.org/







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