Growth hormone secretion and its effect on height in pediatric patients with different genotypes of Prader-Willi syndrome

被引：16

作者：

Oto, Yuji ^{[1
]}

Obata, Kazuo ^{[1
]}

Matsubara, Keiko ^{[2
]}

Kozu, Yuki ^{[1
]}

Tsuchiya, Takayoshi ^{[2
]}

Sakazume, Satoru ^{[1
]}

Yoshino, Atsunori ^{[1
]}

Murakami, Nobuyuki ^{[1
]}

Ogata, Tsutomu ^{[2
]}

Nagai, Toshiro ^{[1
]}

机构：

[1] Dokkyo Med Univ, Dept Pediat, Koshigaya Hosp, Koshigayashi, Saitama 3438555, Japan

[2] Natl Res Inst Child Hlth & Dev, Dept Mol Endocrinol, Tokyo, Japan

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2012年 / 158A卷 / 06期

关键词：

Prader-Willi syndrome; growth hormone; deletion; uniparental disomy; genotype; children; ADULT PATIENTS; CHILDREN; RESPONSIVENESS; STIMULI; THERAPY; GH;

D O I：

10.1002/ajmg.a.35378

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

There have been multiple reports regarding the growth hormone (GH) secretion in patients with PraderWilli 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). (c) 2012 Wiley Periodicals, Inc.

引用

页码：1477 / 1480

页数：4

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