Key result
The prevalence of subclinical hyperthyroidism in Carney complex patients with a PRKAR1A gene variant was markedly higher than in the normal population.
Why the study?
It is currently controversial whether subclinical hyperthyroidism is associated with PRKAR1A gene variants.
Is the PRKAR1A gene variant associated with an increased risk of subclinical hyperthyroidism in patients with Carney complex?
Systematic Review (n=24)
Is the PRKAR1A gene variant associated with an increased risk of subclinical hyperthyroidism in patients with Carney complex?
Subclinical hyperthyroidism may be a neglected phenotype and novel component of Carney complex in patients with PRKAR1A gene variants.
Answers are grounded in this paper and cite their sources.
Subclinical hyperthyroidism may warrant evaluation in PRKAR1A variant carriers; leaves open prospective confirmation as a novel CNC phenotype.
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. Systematic Review Registration https://www.crd.york.ac.uk/PROSPERO , identifier CRD42021197655.
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Wang et al. (2022) conducted a systematic review in Carney complex with PRKAR1A gene variant (n=24). PRKAR1A gene variant vs. Normal population was evaluated on Prevalence of subclinical hyperthyroidism. The prevalence of subclinical hyperthyroidism in Carney complex patients with a PRKAR1A gene variant was markedly higher than in the normal population.
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