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Review of 32 cases of thyroid hemiagenesis with carcinoma highlights surgical and diagnostic patternsDoctors found rare thyroid cancer cases in patients with one missing half of their gland

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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.

This medical review looked at thirty-two people who had a rare condition called thyroid hemiagenesis. This means they were born with only one half of their thyroid gland instead of two. Surprisingly, some of these patients also developed thyroid cancer. The study found that twenty-seven of the patients were female and five were male. This shows that the condition happens more often in women, but it can affect anyone.

To find out what was going on inside their bodies, doctors used several tools. Twenty-four patients had color Doppler ultrasonography to look at their glands. Twelve patients received CT scans to get clear pictures. Nineteen patients had fine-needle aspiration biopsies to check for cancer cells. These tests helped the medical team understand the size and type of the problem.

Ninety percent of the patients needed surgery to remove the affected parts. The most common type of cancer found was papillary thyroid carcinoma, which made up over eighty percent of all cases. The doctors say that having this rare condition might be linked to several genes. However, they do not know for sure if one causes the other.

There are not enough reports about the long-term results or possible complications from surgery. Doctors say we need more data to know how well the treatments work over time. For now, surgeons should follow standard guidelines for treating thyroid cancer. Patients with this rare condition need careful care and close monitoring by their doctors.

What this means for you:
Thirty-two patients with one half of a thyroid gland had cancer in some cases, mostly treated with surgery.

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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