假性甲状旁腺功能减退症Ⅰb型合并亚临床甲状腺功能减退症1例报告及文献复习  

Pseudohypoparathyroidism typeⅠb with subclinical hypothyroidism:clinical report and literature review of 1 case

作　　者：郑文静 江黎晨 张楠[1] 章诗琪[1] 薛丽萍[1] 胡红琳[1] ZHENG Wenjing;JIANG Lichen;ZHANG Nan;ZHANG Shiqi;XUE Liping;HU Honglin(Department of Endocrinology,The First Affiliated Hospital of Anhui Medical University,Hefei,Anhui 230022,China)

机构地区：[1]安徽医科大学第一附属医院内分泌科,安徽合肥230022

出　　处：《安徽医药》2024年第4期760-764,I0003,共6页Anhui Medical and Pharmaceutical Journal

基　　金：安徽省科技厅公益性联动基金(1704F0804026)。

摘　　要：目的 报道1例临床诊断为假性甲状旁腺功能减退症(PHP)Ⅰb型合并亚临床甲状腺功能减退症病人临床资料,利用基因检测明确诊断并进行文献复习。方法 分析安徽医科大学第一附属医院内分泌科于2022年3月31日收治的1例以反复双下肢搐搦、乏力为主诉病人的临床特征、实验室辅助检查结果并完善基因全外显子组测序(whole-exome sequencing,WES)。检索国内外假性甲状旁腺功能减退症Ⅰb型合并亚临床甲状腺功能减退症相关文献并总结其临床特点及基因突变类型。结果病人临床表现以反复双下肢搐搦及乏力为特征,实验室检查结果提示低血钙、高血磷、高甲状旁腺激素及高促甲状腺激素,全外显子基因测序结果表明GNAS复合体基因上游220 kb处突出融合蛋白16(STX16)基因exon5-6杂合缺失及GNAS A/B甲基化异常,结合该病人的临床资料及基因检测结果诊断为假性甲状旁腺功能减退症Ⅰb型合并亚临床甲状腺功能减退症。结论 对临床无法解释的复发性重度低钙血症病例应考虑罕见病PHP可能,而PHP合并亚临床甲状腺功能减退时因两者潜在关联性应及早对病人及家属进行基因检测以明确诊断并个性化治疗。Objective To make a clinical diagnosis by genetic testing and review the literature through reporting the clinical data of a patient with pseudohypoparathyroidism(PHP)typeⅠb combined with subclinical hypothyroidism.Methods The clinical characteristics,laboratory examination results and improved whole-exome sequencing(WES)of a patient with recurrent tetany and fatigue of both lower extremities as the main complaints admitted by the Endocrinology Department of The First Affiliated Hospital of Anhui Medical University on March 31,2022 were analyzed.The relevant domestic and foreign works on pseudohypoparathyroidism typeⅠb combined with subclinical hypothyroidism were searched,and its clinical characteristics and gene mutation types were summarized.Re⁃sults The clinical manifestation of the patient was characterized by recurrent tetany and fatigue of both lower extremities.The laboratory examination results indicated hypocalcemia,hyperphosphorus,hyperparathyroid hormone and hyperthyrotropin.The WES results showed that the loss of heterozygosity of syntaxin 16(STX16)gene exon 5-6 and abnormal methylation of GNAS A/B were prominent at 220 kb upstream of the GNAS complex gene.Thus,in combination with the clinical data and genetic testing results,the patient was diagnosed as pseudohypoparathyroidism typeⅠb combined with subclinical hypothyroidism.Conclusion For patients with recurrent severe hypocalcemia that cannot be explained clinically,the possibility of rare disease PHP should be taken into account.When PHP is combined with subclinical hypothyroidism,due to the potential correlation between the two,genetic testing should be carried out as soon as possible for patients and their family members to affirm diagnosis and individualized treatment.

关 键 词：假性甲状旁腺功能减退症 亚临床甲状腺功能减退 低钙血症 STX16基因 诊断 

分 类 号：R582.2[医药卫生—内分泌] R581.2[医药卫生—内科学]