Karamizadeh Zohreh, Ilkhanipoor Homa, Bagheri Fereshte
Pediatric Endocrinology Division, Namazi Hospital.
Student Research Committee, Shiraz University of Medical Sciences , Shiraz, Iran.
Iran J Pediatr. 2014 Apr;24(2):161-5.
Pycnodysostosis is a rare autosomal recessive osteochondrodysplasia resulting from osteoclast dysfunction. Growth hormone (GH) secretion impairment and low insulin growth factor 1 (IGF-I) concentrations have been reported in these patients. The present study aims to describe GH effect on linear growth of eight children with pycnodysostosis.
This study was conducted on 8 children suffering from pycnodysostosis. After evaluating systemic diseases, adrenal insufficiency, and hypothyroidism, bone age, height standard deviation score (HtSDS), body mass index (BMI), and some demographical characteristics were measured. To measure the serum GH, we performed two clonidine tests in two different days with an interval of 24 hours. With initiation of the trial, human GH was injected subcutaneously once a day 6 days a week for a period of 1.5 years. The patients were followed up every 3 months to document their height and BMI until 6 months after the end of the treatment.
All of the patients had growth hormone deficiency. HtSDS at the first visit continued to decrease during the 6 months before starting the treatment; however, HtSDS started to increase after beginning of GH administration. This value again declined after discontinuing the GH. Overall, the mean of linear growth was improved after GH administration in the patients.
The present clinical study revealed that GH administration had a positive impact on the linear growth of the children suffering from pycnodysostosis.
致密性成骨不全症是一种罕见的常染色体隐性骨软骨发育不良疾病，由破骨细胞功能障碍引起。据报道，这些患者存在生长激素（GH）分泌受损以及胰岛素样生长因子1（IGF-I）浓度降低的情况。本研究旨在描述GH对8例致密性成骨不全症患儿线性生长的影响。
本研究对8例致密性成骨不全症患儿进行。在评估全身性疾病、肾上腺功能不全和甲状腺功能减退后，测量骨龄、身高标准差评分（HtSDS）、体重指数（BMI）以及一些人口统计学特征。为测量血清GH，我们在间隔24小时的两个不同日期进行了两次可乐定试验。试验开始后，每周6天每天皮下注射一次人生长激素，持续1.5年。每3个月对患者进行随访，记录其身高和BMI，直至治疗结束后6个月。
所有患者均存在生长激素缺乏。在开始治疗前的6个月内，首次就诊时的HtSDS持续下降；然而，在开始使用GH后，HtSDS开始上升。停用GH后，该值再次下降。总体而言，患者在使用GH后线性生长均值有所改善。
本临床研究表明，使用GH对致密性成骨不全症患儿的线性生长有积极影响。
