假性甲状旁腺功能减退症Ⅰa型并发亚临床甲状腺功能减退一例  

Pseudohypoparathyroidism type Ⅰa with subclinical hypothyroidism: a case report

作　　者：杨梅[1] 郑群[2] 罗国晶 余希杰[1] YANG Mei;ZHENG Qun;LUO Guo-jing;YU Xi-jie(Laboratory of Endocrinology and Metabolism,Department of Endocrinology,West China Hospital,Sichuan University,Chengdu 610041,China;Department of Endocrinology,Chengdu Fifth People's Hospital,Chengdu 611130,China)

机构地区：[1]四川大学华西医院内分泌代谢科/内分泌与代谢研究室,成都610041 [2]成都市第五人民医院内分泌科,成都611130

出　　处：《中华骨质疏松和骨矿盐疾病杂志》2019年第3期269-273,共5页Chinese Journal Of Osteoporosis And Bone Mineral Research

基　　金：国家自然科学基金(81770875,81572639);四川省科技厅重点研发项目(2018SZ0142);四川大学创新火花项目(2018SCUH0093)

摘　　要：1例20岁青年男性诊断为假性甲状旁腺功能减退症Ⅰa 型并发亚临床甲状腺功能减退。患者14岁起病,主要特征为反复抽搐、早发肥胖、身材矮小、短趾、皮下及颅内钙化。实验室检查示低钙、高磷、高甲状旁腺素血症、促甲状腺素(thyroid stimulating hormone)升高,血清游离三碘甲腺原氨酸(free triiodothyronine)及血清游离甲状腺素(free thyroxine)正常,患者及其父母全外显子测序结果提示患者GNAS 基因杂合突变[c.563(exon7)_c.566(exon7)del CTGA],其父母无该基因突变。结合患者临床特征及基因测序结果,诊断假性甲状旁腺功能减退症Ⅰa型并发亚临床甲状腺功能减退。A case of pseudohypoparathyroidism type Ⅰa patient with subclinical hypothyroidism was reported in this study. The patient was a 20-year-old male,who was presented with repeated tetany,early onset obesity and multiple calcinosis in subcutaneous tissue and brain. The laboratory findings showed hypocalcemia,hyperphosphatemia,normal FT4 with elevated TSH. A heterozygous mutation of [c.563(exon7)_c.566(exon7)del CTGA] in GNAS gene was detected in the patient,but not in his parents. The diagnosis was confirmed with the combination of clinical manifestations and whole exon sequencing.

关 键 词：假性甲状旁腺功能减退症Ⅰa型 亚临床甲状旁腺功能减退症 GNAS基因 

分 类 号：R582[医药卫生—内分泌]