生长激素治疗假假性甲状旁腺功能减退症一例  

Treatment of pseudo-pseudohypoparathyroidism with growth hormone: a case report

作　　者：陈蔚[1] 张丽娟 杨传春 陈川 张琴[1] 苏喆[1] CHEN Wei;ZHANG Li-juan;YANG Chuan-chun;CHEN Chuan;ZHANG Qin;SU Zhe(Department of Endocrinology,Shenzhen Children's Hospital,Shenzhen 518038,Guangdong,China;Shenzhen Letu Life Technology Investment Co.Ltd.,Shenzhen 518000,Guangdong,China)

机构地区：[1]深圳市儿童医院内分泌科,广东深圳518038 [2]深圳市乐土生命科技投资有限公司,广东深圳518000

出　　处：《中华骨质疏松和骨矿盐疾病杂志》2019年第6期607-612,共6页Chinese Journal Of Osteoporosis And Bone Mineral Research

摘　　要：通过临床检查、生化指标检测、全外显子组检测及遗传分析,确诊1例假假性甲状旁腺功能减退症(pseudo-pseudohypoparathyroidism,PPHP)患儿。在不违背生长激素治疗禁忌证的情况下,每日皮下注射基因重组人生长激素(recombinant human growth hormone,rhGH)粉剂6 IU,治疗时间持续7个月。治疗开始4个月患儿身高增长4.3 cm,治疗7个月身高总共增长6.7 cm。治疗过程中监测血糖、血脂、胰岛素、胰岛素样生长因子-1、甲状腺功能、电解质8项(包括钙磷)、25羟维生素D及雌激素、雄激素均没有明显异常。可见,rhGH不仅对生长激素缺乏的矮小患者有效,对本例PPHP矮小患儿的身高增长也有效。A child with pseudo-pseudohypoparathyroidism(PPHP) was diagnosed by clinical examination,laboratory examinations,whole exome sequencing(WES) and genetic analysis.Without violating the contraindication of growth hormone treatment,6 IU of recombinant human growth hormone(rhGH) powder was injected subcutaneously every day for 7 months.The height of the child increased by 4.3 cm at the first 4 months of treatment,and the total height increased by 6.7 cm after 7 months of treatment.Blood sugar,blood lipid,insulin,insulin-like growth factor,thyroid function,8 electrolytes(including calcium and phosphorus),25 hydroxy vitamin D,estrogen,and androgen were not significantly abnormal during the treatment.This study shows that rhGH could be effective for short stature,not only in patients with growth hormone deficiency,but also in patients with PPHP.

关 键 词：假假性甲状旁腺功能减退症 基因重组人生长激素 身高 遗传分析 

分 类 号：R582[医药卫生—内分泌]