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Review of 32 cases of thyroid hemiagenesis with carcinoma highlights surgical and diagnostic patterns

Review of 32 cases of thyroid hemiagenesis with carcinoma highlights surgical and diagnostic…
Photo by National Cancer Institute / Unsplash
Key Takeaway
Consider the rarity and diagnostic patterns when managing thyroid hemiagenesis with carcinoma, noting limited outcome data.

This publication is a review and case series of 32 patients with thyroid hemiagenesis complicated by thyroid carcinoma. The authors synthesized diagnostic methods and treatment patterns from the collected cases. Papillary thyroid carcinoma (PTC) accounted for 81.3% of all enrolled cases. Diagnostic methods included color Doppler ultrasonography in 24 patients, CT scanning in 12, and fine-needle aspiration biopsy in 19. Surgical resection was the treatment modality for 29 patients. The authors acknowledge significant limitations, including a paucity of data on the recognized incidence and etiology of this condition. They also note that there have been no comprehensive reports evaluating surgical complications and long-term therapeutic outcomes, and that the determination of resection scope remains controversial. Practice relevance is restrained, with surgical strategies suggested to be formulated with reference to clinical guidelines for conventional thyroid carcinoma. The coexistence of thyroid hemiagenesis and thyroid carcinoma is exceedingly rare and might potentially be linked to multiple genes, but causality cannot be inferred.

Study Details

Study typeSystematic review
EvidenceLevel 1
PublishedMay 2026
View Original Abstract ↓
BackgroundThyroid hemiagenesis (THA) is a rare congenital malformation. By contrast, the co-occurrence of thyroid carcinoma (TC) in patients with THA is even rarer.Case reportsWe present a detailed account of the diagnosis and treatment of two patients diagnosed with THA complicated by TC.Materials and methodswe performed a comprehensive search of the PubMed in accordance with the PRISMA 2020 guidelines. Subsequently, we performed a detailed summary and analysis of the diagnostic and therapeutic data of the included cases.ResultsWe identified 32 cases of THA complicated with TC reported in the past 50 years. 5 were male and 27 were female. 24 patients underwent color Doppler ultrasonography (US), 12 received CT scanning, and 19 underwent fine-needle aspiration biopsy (FNAB). A total of 29 patients were treated surgically. Papillary thyroid carcinoma (PTC) accounted for 81.3% of all enrolled cases.ConclusionsThe coexistence of THA and TC is exceedingly rare and might potentially be linked to multiple genes. There remains a paucity of data on the recognized incidence and etiology of this condition. Currently, diagnostic approaches to this disease are largely analogous to those for conventional TC. Surgical resection remains the primary treatment for such patients; however, the determination of resection scope remains controversial. It is recommended that surgical strategies be formulated with reference to the clinical guidelines for conventional TC. To date, there have been no comprehensive reports evaluating the surgical complications and long−term therapeutic outcomes of this disease.
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