Association between subclinical hyperthyroidism and a PRKAR1A gene variant in Carney complex patients: A case report and systematic review

作者全名："Wang, Hongyang; Mao, Min; Liu, Dongfang; Duan, Lian"

作者地址："[Wang, Hongyang; Liu, Dongfang] Chongqing Med Univ, Affiliated Hosp 2, Dept Endocrinol, Chongqing, Peoples R China; [Wang, Hongyang] Chongqing Mech Technician Coll, Infirmary, Chongqing Mech Senior Technician Sch, Chongqing, Peoples R China; [Mao, Min] Chongqing Med Univ, Affiliated Hosp 1, Dept Hematol, Chongqing, Peoples R China; [Duan, Lian] Chongqing Med Univ, Affiliated Hosp 3, Jie er Hosp, Dept Endocrinol, Chongqing, Peoples R China"

通信作者："Duan, L (通讯作者)，Chongqing Med Univ, Affiliated Hosp 3, Jie er Hosp, Dept Endocrinol, Chongqing, Peoples R China."

来源：FRONTIERS IN ENDOCRINOLOGY

ESI学科分类：CLINICAL MEDICINE

WOS号：WOS:000875343500001

JCR分区：Q2

影响因子：5.2

年份：2022

卷号：13

期号：　

开始页：　

结束页：　

文献类型：Review

关键词：hyperthyroidism; PRKAR1A gene; Carney complex; case report; systematic review

摘要："Background and Objectives: It is currently controversial whether subclinical hyperthyroidism is associated with PRKAR1A gene variants. We describe a man with subclinical hyperthyroidism and a PRKAR1A gene variant who was diagnosed with Carney complex (CNC), and we performed a systematic review of published studies to assess the association between PRKAR1A gene variants and the risk of subclinical hyperthyroidism. Design and Methods: The PubMed, EMBASE, OVID, Science Direct, and gray literature electronic databases were searched for articles published from January 2002 to May 2021 using predefined keywords and inclusion and exclusion criteria. Data on thyroid function from selected studies were extracted and analyzed. Results: We identified a CNC patient with a subclinical hyperthyroidism phenotype combined with multiple components and genetic sequenced data. In a subsequent systematic review, twenty selected studies (14 case studies and 6 series studies) enrolling 23 individuals were included in the final analysis. The patient's thyroid function data were qualitative in 11 cases and quantitative in 12 cases. The prevalence of subclinical hyperthyroidism in the CNC patients with a PRKAR1A gene variant, including our patient, was markedly higher than that in the normal population (12.5% vs. 2%) Conclusions: The findings of this systematic review provide helpful evidence that PRKAR1A gene variants and subclinical hyperthyroidism are related and suggest that subclinical hyperthyroidism may be a neglected phenotype of PRKAR1A gene variants and a novel component of CNC patients."

基金机构：Chongqing medical scientific research project (Joint project of Chongqing Health Commission and Science and Technology Bureau) [2022GDRC016]; Key Laboratory Incubation Project of the Third Affiliated Hospital of Chongqing Medical University [KY19025]; High-level Medical Reserved Personnel Training Project of Chongqing [CQSZQNYXGDRC201829]

基金资助正文："This work was supported by grants from Chongqing medical scientific research project (Joint project of Chongqing Health Commission and Science and Technology Bureau) (2022GDRC016), Key Laboratory Incubation Project of the Third Affiliated Hospital of Chongqing Medical University (KY19025), and High-level Medical Reserved Personnel Training Project of Chongqing (CQSZQNYXGDRC201829)."