title: Growth hormone secretion and its effect on height in pediatric patients with different genotypes of Prader-Willi syndrome.
abstract: There have been multiple reports regarding the growth hormone (GH) secretion in patients with Prader-Willi syndrome (PWS). However, none have compared GH secretion in children with deletion group to those with maternal uniparental disomy (UPD). We evaluated the GH secretion in pediatric patients with PWS. Seventy-six patients with a deletion (n = 55) or UPD (n = 21) were studied. The secretion of GH by insulin stimulation in the patients with UPD (3.6 ± 2.2 ng/ml) was significantly lower than those with deletions (peak GH level: 11.1 ± 8.6 ng/ml; P = 0.0013). We also compared the response to GH replacement therapy. Yearly improvements in height standard deviation score (SDS) were similar in the two groups (first year SDS: 0.47 ± 0.47, deletion; 0.68 ± 0.26, UPD; P = 0.14).
authors.affiliation: Department of Pediatrics, Dokkyo Medical University Koshigaya Hospital, Saitama, Japan. yujioto@gmail.com
authors.forename: Yuji
authors.initials: Y
authors.lastname: Oto
authors.forename: Kazuo
authors.initials: K
authors.lastname: Obata
authors.forename: Keiko
authors.initials: K
authors.lastname: Matsubara
authors.forename: Yuki
authors.initials: Y
authors.lastname: Kozu
authors.forename: Takayoshi
authors.initials: T
authors.lastname: Tsuchiya
authors.forename: Satoru
authors.initials: S
authors.lastname: Sakazume
authors.forename: Atsunori
authors.initials: A
authors.lastname: Yoshino
authors.forename: Nobuyuki
authors.initials: N
authors.lastname: Murakami
authors.forename: Tsutomu
authors.initials: T
authors.lastname: Ogata
authors.forename: Toshiro
authors.initials: T
authors.lastname: Nagai
mesh_terms: D000293:Adolescent; D001827:Body Height; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D005260:Female; D005838:Genotype; D013006:Growth Hormone / Q000378:metabolism* / Q000627:therapeutic use; D020249:Hormone Replacement Therapy; D006801:Humans; D007223:Infant; D008297:Male; D011218:Prader-Willi Syndrome / Q000188:drug therapy / Q000235:genetics* / Q000378:metabolism*; D016896:Treatment Outcome; D024182:Uniparental Disomy
chemical_list: D013006:Growth Hormone