Clinical and gene methylation analysis of type 1b pseudohypoparathyroidism

Q4 Medicine

中华内分泌代谢杂志 Pub Date : 2019-12-25 DOI:10.3760/CMA.J.ISSN.1000-6699.2019.12.002

Yujin Ma, Peng Liu, Yuan Yuan, Haibo Lu, Wenbo Zhang, Liujun Fu, Liping Li, Jien-Wei Liu, Yingyu Zhang, Huifang Peng

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引用次数: 0

Abstract

Objective This study was carried out to analyze the clinical characteristics of pseudohypopara-thyroidism(PHP) type 1b, and to improve the understanding and diagnosis of the disease. Methods Five patients with molecular diagnosis of pseudohypoparathyroidism type 1b in our hospital during 2018 were enrolled, their clinical data, biochemical indicators, imaging, and gene detection results were analyzed. Results There were 4 females and 1 male, with low calcium, high phosphorus and high PTH serum concentrations. The onset age span was large and the onset symptoms were different. Family history may not be obvious. There was abnormal methylation of GNAS gene or deletion of exon STX16 in methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) detection while gene sequencing result was negative. Conclusion MS-MLPA detection was still needed in patients with suspected PHP but negative gene sequencing result. Different methylation abnormalities and copy number variations might be correlated with the onset symptoms and familial of type 1b PHP. Key words: Pseudohypoparathyroidism, type 1b; GNAS; Methylation

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1b型假性甲状旁腺功能减退症临床及基因甲基化分析

目的分析1b型假性甲状腺功能减退症(PHP)的临床特点，提高对该病的认识和诊断。方法收集2018年我院收治的5例分子诊断为1b型假性甲状旁腺功能减退症患者，分析其临床资料、生化指标、影像学及基因检测结果。结果女性4例，男性1例，低钙、高磷、高甲状旁腺激素血药浓度。发病年龄跨度大，发病症状差异大。家族史可能不明显。在甲基化特异性多重连接依赖探针扩增(MS-MLPA)检测中发现GNAS基因甲基化异常或STX16外显子缺失，而基因测序结果为阴性。结论疑似PHP患者仍需MS-MLPA检测，但基因测序结果为阴性。不同的甲基化异常和拷贝数变异可能与1b型PHP的发病症状和家族性有关。关键词:假性甲状旁腺功能低下，1b型;玲娜;甲基化

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来源期刊

中华内分泌代谢杂志 Medicine-Endocrinology, Diabetes and Metabolism

CiteScore

0.60

自引率

0.00%

发文量

7243

期刊介绍： The Chinese Journal of Endocrinology and Metabolism was founded in July 1985. It is a senior academic journal in the field of endocrinology and metabolism sponsored by the Chinese Medical Association. The journal aims to be the "Chinese broadcaster of new knowledge on endocrinology and metabolism worldwide". It reports leading scientific research results and clinical diagnosis and treatment experience in endocrinology and metabolism and related fields, as well as basic theoretical research that has a guiding role in endocrinology and metabolism clinics and is closely integrated with clinics. The journal is a core journal of Chinese science and technology (a statistical source journal of Chinese science and technology papers), and is included in Chinese and foreign statistical source journal databases such as the Chinese Science and Technology Papers and Citation Database, Chemical Abstracts, and Scopus.