Unveiling the rare coexistence: thyroid hemiagenesis and thyroid cancer - case series and comprehensive review

Thyroid hemiagenesis (THA) is a rare congenital malformation. By contrast, the co-occurrence of thyroid carcinoma (TC) in patients with THA is even rarer.

We present a detailed account of the diagnosis and treatment of two patients diagnosed with THA complicated by TC.

we 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.

We 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.

The 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.