Clinical and Experimental Pediatrics

대한소아청소년과학회 (The Korean Pediatric Society)
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Prader-Willi syndrome: a single center's experience in Korea

  • Kim, Yea Ji (Department of Pediatrics, Pusan National University School of Medicine) ;
  • Cheon, Chong Kun (Department of Pediatrics, Pusan National University School of Medicine)
  • 투고 : 2013.10.22
  • 심사 : 2014.03.11
  • 발행 : 2014.07.10
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초록

Purpose: 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.

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참고문헌

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피인용 문헌

  1. Endocrine disorders and the neurologic manifestations vol.19, pp.4, 2014, https://doi.org/10.6065/apem.2014.19.4.184
  2. Beneficial Effects of Growth Hormone Treatment in Prader-Willi Syndrome vol.3, pp.2, 2014, https://doi.org/10.19125/jmrd.2017.3.2.41
  3. Establishing perinatal and neonatal features of Prader-Willi syndrome for efficient diagnosis and outcomes vol.8, pp.8, 2014, https://doi.org/10.1080/21678707.2020.1802718
  4. Thyroid Function in Adults with Prader-Willi Syndrome; a Cohort Study and Literature Review vol.10, pp.17, 2014, https://doi.org/10.3390/jcm10173804