A case of pycnodysostosis with growth hormone deficiency

被引：0
|
作者：
Darcan, S
Akisu, M
Taneli, B
Kendir, G
机构：
来源：
CLINICAL GENETICS | 1996年 / 50卷 / 05期
关键词：
bones; dysostoses; growth hormone; pycnodysostosis;
D O I：
暂无
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
Pycnodysostosis is a skeletal dysplasia characterized by short stature. Treatment of pycnodysostosis with growth hormone (GH) has not been reported so far. We describe a case of pycnodysostosis with growth hormone deficiency in addition to low mean insulin-like growth factor 1 (IGF-1) concentration. Complete GH deficiency was determined by two pharmacological provocative tests (insulin and L-dopa). A good height velocity response was obtained after GH replacement treatment. Pycnodysostosis with GH deficiency and replacement therapy have not been reported previously, to the best of our knowledge.
引用
收藏
页码：422 / 425
页数：4
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