Author

Constantine A. Stratakis

2 papers indexed here

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Review Open access Sep 2026

Calcitonin-negative 'MTC-like' thyroid paraganglioma revealing an SDHD-related hereditary paraganglioma syndrome: functional confirmation of a non-canonical splice-site variant.

INTRODUCTION Primary thyroid paraganglioma (TPGL) is a rare mimic of medullary thyroid carcinoma (MTC). We report an SDHD-related TPGL caused by a non-canonical splice-region variant. CASE PRESENTATION A 36-year-old woman underwent thyroidectomy for a 20 mm EU-TIRADS 4 Bethesda III thyroid nodule with normal serum ca...

G. Effraimidis, V. Trachana, Evmorfia Tzagkaraki et al. · European Thyroid Journal · 0 citations

Open access Aug 2026

P461 - LBA_ECE_1060 - Functional characterization of a non-canonical SDHD splice-site variant (c.314+4A > G) in a family with thyroid and carotid paragangliomas

Thyroid paragangliomas (TPGLs) are exceptionally rare (<0.1% of thyroid neoplasms, ~0.5% of all paragangliomas) and frequently occur within hereditary head and neck paraganglioma syndromes. While hereditary paragangliomas are frequently linked to SDHD germline variants, intronic splice-site alterations are scarce...

G. Effraimidis, V. Trachana, Evmorfia Tzagkaraki et al. · European Journal of Endocrin... · 0 citations