Darcan S, Akisü M, Taneli B, Kendir G
Department of Pediatrics, Ege University, Faculty of Medicine, Izmir, Turkey.
Clin Genet. 1996 Nov;50(5):422-5. doi: 10.1111/j.1399-0004.1996.tb02400.x.
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.
致密性成骨不全症是一种以身材矮小为特征的骨骼发育异常疾病。迄今为止，尚未有使用生长激素（GH）治疗致密性成骨不全症的报道。我们描述了一例除平均胰岛素样生长因子1（IGF-1）浓度较低外还伴有生长激素缺乏的致密性成骨不全症病例。通过两项药物激发试验（胰岛素和左旋多巴）确定为完全性生长激素缺乏。生长激素替代治疗后获得了良好的身高增长速度反应。据我们所知，此前尚未有关于伴有生长激素缺乏的致密性成骨不全症及替代治疗的报道。
