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.
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页码：422 / 425
页数：4
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