Growth Hormone Treatment and Its Effect on Height in Pediatric Patients with Different Genotypes of Prader-Willi Syndrome
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Purpose: Differences in phenotypes between the two most common subtypes of Prader-Willi syndrome (PWS) indicate that a distinct response to growth hormone (GH)treatment may exist. To test this hypothesis, we compared the results of GH treatment in individuals with PWS due to uniparental disomy (UPD) to those of individuals with deletions. Methods: Sixty-five children with PWS who had been treated with GH for more than two years were included in this study. Twenty-one individuals were confirmed as having UPD and 44 individuals had a deletion. Height, body weight, body mass index (BMI), and insulin like growth factor-1 (IGF-I) measurements were recorded before GH treatment and at intervals of 12 months thereafter. Results: After two years of GH therapy, no significant differences were noted for yearly improvements in height standard deviation scores (SDS) between the groups (second year SDS, 0.93 ± 0.94; deletion, 0.84 ± 1.31; UPD, P = 0.717). Body weight SDS, BMI SDS,and IGF-I SDS also showed no differences between the two groups. Conclusion: Our study showed no significant differences in yearly improvements in height SDS between the deletion and UPD groups, at least for the first two years.
Abstract
Purpose: Differences in phenotypes between the two most common subtypes of Prader-Willi syndrome (PWS) indicate that a distinct response to growth hormone (GH)treatment may exist. To test this hypothesis, we compared the results of GH treatment in individuals with PWS due to uniparental disomy (UPD) to those of individuals with deletions. Methods: Sixty-five children with PWS who had been treated with GH for more than two years were included in this study. Twenty-one individuals were confirmed as having UPD and 44 individuals had a deletion. Height, body weight, body mass index (BMI), and insulin like growth factor-1 (IGF-I) measurements were recorded before GH treatment and at intervals of 12 months thereafter. Results: After two years of GH therapy, no significant differences were noted for yearly improvements in height standard deviation scores (SDS) between the groups (second year SDS, 0.93 ± 0.94; deletion, 0.84 ± 1.31; UPD, P = 0.717). Body weight SDS, BMI SDS,and IGF-I SDS also showed no differences between the two groups. Conclusion: Our study showed no significant differences in yearly improvements in height SDS between the deletion and UPD groups, at least for the first two years.
참고문헌 (15)
- Cataletto M, "Prader-Willi syndrome: a primer for clinicians", Int J Pediatr Endocrinol, 2011, pp.12~ (2011)
- Webb T, "A study of the influence of different genotypes on the physical and behavioral phenotypes of children and adults ascertained clinically as having PWS", Clin Genet, 62, pp.273~281 (2002)
- Roof E, "Intellectual characteristics of Prader-Willi syndrome: comparison of genetic subtypes", J Intellect Disabil Res, 44, pp.25~30 (2000)
- Dong- Kyu Jin, "Endocrine problems in children with Prader-Willi syndrome: special review on associated genetic aspects and early growth hormone treatment", Korean Journal of Pediatrics, 55(7), pp.224~231 (2012), 대한소아과학회
- Royo Perez D, "Prader-willi and angelman syndromes: 21 years of experience", An Pediatr (Barc) In prss (2012)
- Oto Y, "Growth hormone secretion and its effect on height in pediatric patients with different genotypes of Prader- Willi syndrome", Am J Med Genet A, 158A, pp.1477~1480 (2012)
- Grugni G, "Impairment of GH responsiveness to combined GH-releasing hormone and arginine administration in adult patients with Prader-Willi syndrome", Clin Endocrinol (Oxf), 65, pp.492~499 (2006)
- Boer H, "Psychotic illness in people with Prader Willi syndrome due to chromosome 15 maternal uniparental disomy", Lancet, 359, pp.135~136 (2002)
- Butler MG, "Is gestation in Prader-Willi syndrome affected by the genetic subtype?", J Assist Reprod Genet, 26, pp.461~466 (2009)
- Holsen LM, "Genetic subtype differences in neural circuitry of food motivation in Prader-Willi syndrome", Int J Obes (Lond), 33, pp.273~283 (2009)
- Cassidy SB, "Prader-Willi and Angelman syndromes: sister imprinted disorders", Am J Med Genet, 97, pp.136~146 (2000)
- Horsthemke B, "Mechanisms of imprinting of the Prader-Willi", Angelman region, 2008, pp.146A, 2041~2052
- Varela MC, "Impact of molecular mechanisms, including deletion size, on Prader-Willi syndrome phenotype: study of 75 patients", Clin Genet, 67, pp.47~52 (2005)
- Gunay-Aygun M, "Delayed diagnosis in patients with Prader-Willi syndrome due to maternal uniparental disomy 15", Am J Med Genet, 71, pp.106~110 (1997)
- Park SW, "A polymorphism in the growth hormone receptor is associated with height in children with Prader-Willi syndrome", Am J Med Genet A, 155A, pp.2970~2973 (2011)