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Carney complex: a case with thyroid follicular adenoma without a PRKAR1A mutation
Shinji Hattori1, Yukou Yamane2, Ryoichi Shimomura3
1Department of Surgery, Masuda Red Cross Hospital, 103-1 Otoyoshi, Masuda, Shimane, 698-8501, Japan. hattori-s@masuda.jrc.or.jp.
Surgical Case Reports
|April 19, 2018
Summary
Carney complex (CNC) patients require vigilant thyroid monitoring. This rare disease can manifest with various follicular thyroid lesions, necessitating frequent evaluations to detect potential carcinoma development.
Area of Science:
- Endocrinology
- Genetics
- Oncology
Background:
- Carney complex (CNC) is an extremely rare genetic disorder.
- Thyroid lesions are diagnostic criteria for CNC but occur infrequently.
- This case highlights a patient with CNC and toxic multinodular goiter.
Purpose of the Study:
- To report a rare case of Carney complex with thyroid involvement.
- To emphasize the importance of regular thyroid evaluation in CNC patients.
- To discuss the diagnostic challenges and management of thyroid lesions in CNC.
Main Methods:
- A 69-year-old female patient with a history of left atrial myxoma was diagnosed with CNC.
- Diagnostic workup included thyroid ultrasonography, scintigraphy, and genetic testing (PRKAR1A).
- Annual imaging (MRI, CT) and thyroid US were performed; partial thyroidectomy confirmed follicular adenomas.
Main Results:
- The patient presented with toxic multinodular goiter and multiple follicular thyroid nodules.
- Genetic analysis did not reveal PRKAR1A mutations.
- Pathological examination after partial thyroidectomy revealed multiple follicular adenomas.
Conclusions:
- Carney complex patients necessitate thorough and frequent thyroid gland assessment.
- Follicular thyroid lesions in CNC patients carry a risk of developing into carcinoma.
- Proactive monitoring is crucial for early detection and management of thyroid abnormalities in CNC.
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