C-Cell Hyperplasia and Cystic Papillary Thyroid Carcinoma in a Patient with Type 1B Pseudohypoparathyroidism and Hypercalcitoninaemia: Case Report and Review of the Literature
Hypercalcitoninaemia has been described in patients with pseudohypoparathyroidism (PHP) type 1A and 1B. Elevated calcitonin levels are thought to result from impaired Gsα receptor signaling, leading to multiple hormone resistance. Evidence on the risk of medullary thyroid carcinoma (MTC) or C-cell h...
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MDPI AG
2023-12-01
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| Series: | Journal of Clinical Medicine |
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| Online Access: | https://www.mdpi.com/2077-0383/12/24/7525 |
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| author | Davide Ferrari Carla Pandozzi Alessia Filice Christopher Nardi Alessia Cozzolino Rossella Melcarne Laura Giacomelli Marco Biffoni Cira Di Gioia Elisabetta Merenda Giulia Del Sindaco Angela Pagnano Riccardo Pofi Elisa Giannetta |
| author_facet | Davide Ferrari Carla Pandozzi Alessia Filice Christopher Nardi Alessia Cozzolino Rossella Melcarne Laura Giacomelli Marco Biffoni Cira Di Gioia Elisabetta Merenda Giulia Del Sindaco Angela Pagnano Riccardo Pofi Elisa Giannetta |
| author_sort | Davide Ferrari |
| collection | DOAJ |
| description | Hypercalcitoninaemia has been described in patients with pseudohypoparathyroidism (PHP) type 1A and 1B. Elevated calcitonin levels are thought to result from impaired Gsα receptor signaling, leading to multiple hormone resistance. Evidence on the risk of medullary thyroid carcinoma (MTC) or C-cell hyperplasia in PHP patients with hypercalcitoninaemia is lacking. A 43-year-old Caucasian man was referred to our endocrinology clinic for chronic hypocalcemia associated with elevated serum parathormone levels and a single cystic thyroid nodule. The patient did not show skeletal deformities, and screening for concomitant hormone resistances was negative, except for the presence of elevated serum calcitonin levels. The workup led to a molecular diagnosis of sporadic PHP1B. Fine needle aspiration of the thyroid nodule was not diagnostic. The calcium stimulation test yielded an abnormal calcitonin response. Given the scarcity of data on the risk of thyroid malignancy in PHP and calcium stimulation test results, total thyroidectomy was performed. Histological examination revealed cystic papillary thyroid cancer in a background of diffuse C-cell hyperplasia. To our knowledge, we are the first to describe a rare form of thyroid cancer combined with C-cell hyperplasia in a patient with PHP and hypercalcitoninaemia. In the present case, a mere receptor resistance might not fully explain the elevated calcitonin levels, suggesting that hypercalcitoninaemia should be carefully evaluated in PHP patients, especially in the case of concomitant thyroid nodules. Further studies on larger cohorts are needed to elucidate this topic. |
| first_indexed | 2024-03-08T20:40:22Z |
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| institution | Directory Open Access Journal |
| issn | 2077-0383 |
| language | English |
| last_indexed | 2024-03-08T20:40:22Z |
| publishDate | 2023-12-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Journal of Clinical Medicine |
| spelling | doaj.art-f4e9a0d0286443a1be7db70fd4462d612023-12-22T14:16:52ZengMDPI AGJournal of Clinical Medicine2077-03832023-12-011224752510.3390/jcm12247525C-Cell Hyperplasia and Cystic Papillary Thyroid Carcinoma in a Patient with Type 1B Pseudohypoparathyroidism and Hypercalcitoninaemia: Case Report and Review of the LiteratureDavide Ferrari0Carla Pandozzi1Alessia Filice2Christopher Nardi3Alessia Cozzolino4Rossella Melcarne5Laura Giacomelli6Marco Biffoni7Cira Di Gioia8Elisabetta Merenda9Giulia Del Sindaco10Angela Pagnano11Riccardo Pofi12Elisa Giannetta13Department of Experimental Medicine, Sapienza University of Rome, Viale Regina Elena 324, 00161 Rome, ItalyDepartment of Experimental Medicine, Sapienza University of Rome, Viale Regina Elena 324, 00161 Rome, ItalyDepartment of Experimental Medicine, Sapienza University of Rome, Viale Regina Elena 324, 00161 Rome, ItalyDepartment of Experimental Medicine, Sapienza University of Rome, Viale Regina Elena 324, 00161 Rome, ItalyDepartment of Experimental Medicine, Sapienza University of Rome, Viale Regina Elena 324, 00161 Rome, ItalyDepartment of Translational and Precision Medicine, Sapienza University of Rome, 00185 Rome, ItalyDepartment of General and Specialized Surgery, Sapienza University of Rome, 00185 Rome, ItalyDepartment of General and Specialized Surgery, Sapienza University of Rome, 00185 Rome, ItalyDepartment of Radiological, Oncological and Pathological Sciences, Sapienza University of Rome, 00185 Rome, ItalyDepartment of Radiological, Oncological and Pathological Sciences, Sapienza University of Rome, 00185 Rome, ItalyEndocrinology Unit, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, 20122 Milan, ItalyEndocrinology Unit, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, 20122 Milan, ItalyOxford Centre for Diabetes, Endocrinology and Metabolism, NIHR Oxford Biomedical Research Centre, University of Oxford, Oxford OX1 2JD, UKDepartment of Experimental Medicine, Sapienza University of Rome, Viale Regina Elena 324, 00161 Rome, ItalyHypercalcitoninaemia has been described in patients with pseudohypoparathyroidism (PHP) type 1A and 1B. Elevated calcitonin levels are thought to result from impaired Gsα receptor signaling, leading to multiple hormone resistance. Evidence on the risk of medullary thyroid carcinoma (MTC) or C-cell hyperplasia in PHP patients with hypercalcitoninaemia is lacking. A 43-year-old Caucasian man was referred to our endocrinology clinic for chronic hypocalcemia associated with elevated serum parathormone levels and a single cystic thyroid nodule. The patient did not show skeletal deformities, and screening for concomitant hormone resistances was negative, except for the presence of elevated serum calcitonin levels. The workup led to a molecular diagnosis of sporadic PHP1B. Fine needle aspiration of the thyroid nodule was not diagnostic. The calcium stimulation test yielded an abnormal calcitonin response. Given the scarcity of data on the risk of thyroid malignancy in PHP and calcium stimulation test results, total thyroidectomy was performed. Histological examination revealed cystic papillary thyroid cancer in a background of diffuse C-cell hyperplasia. To our knowledge, we are the first to describe a rare form of thyroid cancer combined with C-cell hyperplasia in a patient with PHP and hypercalcitoninaemia. In the present case, a mere receptor resistance might not fully explain the elevated calcitonin levels, suggesting that hypercalcitoninaemia should be carefully evaluated in PHP patients, especially in the case of concomitant thyroid nodules. Further studies on larger cohorts are needed to elucidate this topic.https://www.mdpi.com/2077-0383/12/24/7525pseudohypoparathyroidismhypercalcitoninaemiaC-cell hyperplasiapapillary thyroid cancercalcitonin |
| spellingShingle | Davide Ferrari Carla Pandozzi Alessia Filice Christopher Nardi Alessia Cozzolino Rossella Melcarne Laura Giacomelli Marco Biffoni Cira Di Gioia Elisabetta Merenda Giulia Del Sindaco Angela Pagnano Riccardo Pofi Elisa Giannetta C-Cell Hyperplasia and Cystic Papillary Thyroid Carcinoma in a Patient with Type 1B Pseudohypoparathyroidism and Hypercalcitoninaemia: Case Report and Review of the Literature Journal of Clinical Medicine pseudohypoparathyroidism hypercalcitoninaemia C-cell hyperplasia papillary thyroid cancer calcitonin |
| title | C-Cell Hyperplasia and Cystic Papillary Thyroid Carcinoma in a Patient with Type 1B Pseudohypoparathyroidism and Hypercalcitoninaemia: Case Report and Review of the Literature |
| title_full | C-Cell Hyperplasia and Cystic Papillary Thyroid Carcinoma in a Patient with Type 1B Pseudohypoparathyroidism and Hypercalcitoninaemia: Case Report and Review of the Literature |
| title_fullStr | C-Cell Hyperplasia and Cystic Papillary Thyroid Carcinoma in a Patient with Type 1B Pseudohypoparathyroidism and Hypercalcitoninaemia: Case Report and Review of the Literature |
| title_full_unstemmed | C-Cell Hyperplasia and Cystic Papillary Thyroid Carcinoma in a Patient with Type 1B Pseudohypoparathyroidism and Hypercalcitoninaemia: Case Report and Review of the Literature |
| title_short | C-Cell Hyperplasia and Cystic Papillary Thyroid Carcinoma in a Patient with Type 1B Pseudohypoparathyroidism and Hypercalcitoninaemia: Case Report and Review of the Literature |
| title_sort | c cell hyperplasia and cystic papillary thyroid carcinoma in a patient with type 1b pseudohypoparathyroidism and hypercalcitoninaemia case report and review of the literature |
| topic | pseudohypoparathyroidism hypercalcitoninaemia C-cell hyperplasia papillary thyroid cancer calcitonin |
| url | https://www.mdpi.com/2077-0383/12/24/7525 |
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