Association between subclinical hyperthyroidism and a PRKAR1A gene variant in Carney complex patients: A case report and systematic review
Background and ObjectivesIt 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 publ...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2022-09-01
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| Series: | Frontiers in Endocrinology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fendo.2022.951133/full |
| _version_ | 1798000541810294784 |
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| author | Hongyang Wang Hongyang Wang Min Mao Dongfang Liu Lian Duan |
| author_facet | Hongyang Wang Hongyang Wang Min Mao Dongfang Liu Lian Duan |
| author_sort | Hongyang Wang |
| collection | DOAJ |
| description | Background and ObjectivesIt 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 MethodsThe 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.ResultsWe 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%)ConclusionsThe 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.Systematic Review Registrationhttps://www.crd.york.ac.uk/PROSPERO, identifier CRD42021197655. |
| first_indexed | 2024-04-11T11:21:57Z |
| format | Article |
| id | doaj.art-ad4c1ef89deb42078bc392b2caf8cd7e |
| institution | Directory Open Access Journal |
| issn | 1664-2392 |
| language | English |
| last_indexed | 2024-04-11T11:21:57Z |
| publishDate | 2022-09-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Endocrinology |
| spelling | doaj.art-ad4c1ef89deb42078bc392b2caf8cd7e2022-12-22T04:27:01ZengFrontiers Media S.A.Frontiers in Endocrinology1664-23922022-09-011310.3389/fendo.2022.951133951133Association between subclinical hyperthyroidism and a PRKAR1A gene variant in Carney complex patients: A case report and systematic reviewHongyang Wang0Hongyang Wang1Min Mao2Dongfang Liu3Lian Duan4Department of Endocrinology, The Second Affiliated Hospital of Chongqing Medical University, Chongqing, ChinaThe Infirmary, Chongqing Mechanical Senior Technician School (Chongqing Mechanical Technician College), Chongqing, ChinaDepartment of Hematology, The First Affiliated Hospital of Chongqing Medical University, Chongqing, ChinaDepartment of Endocrinology, The Second Affiliated Hospital of Chongqing Medical University, Chongqing, ChinaDepartment of Endocrinology, The Third Affiliated Hospital of Chongqing Medical University (Jie er Hospital), Chongqing, ChinaBackground and ObjectivesIt 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 MethodsThe 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.ResultsWe 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%)ConclusionsThe 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.Systematic Review Registrationhttps://www.crd.york.ac.uk/PROSPERO, identifier CRD42021197655.https://www.frontiersin.org/articles/10.3389/fendo.2022.951133/fullhyperthyroidismPRKAR1A geneCarney complexcase reportsystematic review |
| spellingShingle | Hongyang Wang Hongyang Wang Min Mao Dongfang Liu Lian Duan Association between subclinical hyperthyroidism and a PRKAR1A gene variant in Carney complex patients: A case report and systematic review Frontiers in Endocrinology hyperthyroidism PRKAR1A gene Carney complex case report systematic review |
| title | Association between subclinical hyperthyroidism and a PRKAR1A gene variant in Carney complex patients: A case report and systematic review |
| title_full | Association between subclinical hyperthyroidism and a PRKAR1A gene variant in Carney complex patients: A case report and systematic review |
| title_fullStr | Association between subclinical hyperthyroidism and a PRKAR1A gene variant in Carney complex patients: A case report and systematic review |
| title_full_unstemmed | Association between subclinical hyperthyroidism and a PRKAR1A gene variant in Carney complex patients: A case report and systematic review |
| title_short | Association between subclinical hyperthyroidism and a PRKAR1A gene variant in Carney complex patients: A case report and systematic review |
| title_sort | association between subclinical hyperthyroidism and a prkar1a gene variant in carney complex patients a case report and systematic review |
| topic | hyperthyroidism PRKAR1A gene Carney complex case report systematic review |
| url | https://www.frontiersin.org/articles/10.3389/fendo.2022.951133/full |
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