Thyroid hemiagenesis (THA) is a rare congenital anomaly characterized by the underdevelopment or complete absence of one thyroid lobe. The coexistence of thyroid carcinoma in patients with this condition is exceedingly uncommon, with only a limited number of cases reported worldwide. Awareness of this presentation is essential due to its diagnostic and therapeutic implications. We report a 36-year-old female who presented with a right thyroid nodule and was subsequently diagnosed with papillary thyroid carcinoma in the context of left THA. Ultrasonography and contrast-enhanced computed tomography (CT) confirmed the absence of the left thyroid lobe and isthmus. Fine-needle aspiration biopsy (FNAB) was not performed due to the small size of the nodule and patient preference. The patient underwent right thyroidectomy with prophylactic right central neck dissection. Intraoperative frozen section confirmed papillary carcinoma, guiding the surgical extent. Postoperative pathology revealed a 0.4 cm papillary carcinoma without lymph node metastasis. THA is typically asymptomatic and often discovered incidentally. However, anatomical variations may complicate the diagnosis and surgical management of thyroid carcinoma. Preservation of parathyroid glands, recurrent laryngeal nerves, and awareness of possible ectopic thyroid tissue, are critical during surgery. Papillary thyroid carcinoma occurring in THA is rare but clinically significant. This case highlights the importance of careful preoperative assessment and the value of intraoperative frozen section analysis in determining the need for central neck dissection. Early detection, individualized surgical planning, and multidisciplinary follow-up can optimize outcomes in such atypical presentations.

Thyroid hemiagenesis is a rare congenital anomaly characterized by the absence of one thyroid lobe. Most cases are asymptomatic and diagnosed incidentally. It is an important condition to recognize clinically, as the compensatory function of the remaining lobe may not be sufficient over time and may result in thyroid dysfunction. A 15-year-old female was referred for routine assessment because of a paternal family history of hypothyroidism. Physical examination revealed an enlarged right thyroid lobe, and ultrasonography confirmed congenital absence of the left lobe. Laboratory tests revealed initial subclinical hypothyroidism, which normalized after thyroxine therapy. A long-term seven-year follow-up showed that thyroid function had remained stable without pharmacological intervention because of effective compensatory hypertrophy of the right lobe. The child remained asymptomatic with continued normal growth and development. This unique case of thyroid hemiagenesis in a 15-year-old female, where the remaining thyroid lobe maintained normal thyroid function with normal thyroid function tests despite the structural anomaly, highlights the importance of thorough assessment and long-term follow-up. While compensatory hypertrophy can keep thyroid function normal, subclinical hypothyroidism may still develop over time. The asymptomatic nature of this patient, in contrast to some cases reporting mild symptoms or subclinical hypothyroidism, underscores the need for ongoing monitoring to detect potential future dysfunction. Familial thyroid history may also provide valuable insights for management.

Thyroid hypoplasia is described as a rare congenital anomaly. It is characterized by incomplete development of thyroid tissue, which can be differentiated from thyroid hemiagenesis, where a lobe is completely absent. These cases mostly present asymptomatically and are often found when imaged for unrelated conditions. In this report, we present a case of a 22-year-old euthyroid female who was incidentally discovered to have a hypoplastic left thyroid lobe during ultrasonography. After undergoing further investigations, the thyroid functioning tests were within a normal range (thyroid-stimulating hormone (TSH) 0.751 mIU/L, triiodothyronine (T3) 1.99 pg/mL, thyroxine (T4) 8.21 µg/dL). In addition, an isotope thyroid scan was done, confirming no functioning tissue in the hypoplastic lobe. This case study underlines the significance of differentiating between thyroid hemiagenesis and hypoplasia. In addition, it also highlights the importance of long-term follow-up for assessment of associated thyroid pathologies.

Thyroid hemiagenesis (THA) is a rare congenital disorder in which one thyroid lobe fails to develop. A variety of pathological conditions can occur in the remaining thyroid tissue in association with this rare anomaly such as subacute thyroiditis, colloid nodules, Graves' disease, simple goiter, Hashimoto thyroiditis, adenoma and thyroid carcinoma. The association of thyroid hemiagenesis with simple diffuse goiter is rare, and very few cases have been reported in the literature. A 30-year-old female patient presented at the thyroid clinic because of anterior neck swelling for approximately 2 years, thus raising the suspicion of a thyroid disorder. Physical examination revealed an approximately 5 × 5 cm anterior neck mass consistent with a goiter. The thyroid function test results were within normal limits. Ultrasonography of the anterior neck (thyroid gland) revealed thyroid hemiagenesis of the right lobe and a contralateral (left) diffusely enlarged thyroid gland, which had areas of tiny cystic components with a spongy appearance. Fine needle aspiration cytology demonstrated that the lesion was a colloid goiter and the patient was on regular follow up with thyroid function tests and ultrasound as the patient was without symptoms. Finally, the diagnosis of right thyroid hemiagenesis with a contralateral simple diffuse goiter was made which was a very rare association. Right sided thyroid hemiagenesis was also a very rare finding compared to left sided.

Harahap et al. (2025) examine the association between BRAFV600E mutation and nuclear features in papillary thyroid carcinoma (PTC), with a focus on nuclear pseudo inclusions (NPIs). While the study contributes to understanding molecular-histo pathological correlations, several critical limitations warrant attention. The authors do not account for congenital anomalies such as thyroid hemi agenesis, which can alter tumor morphology independently of genetic mutations [2]. Additionally, coexisting autoimmune thyroid conditions like Hashimoto's thyroiditis may confound nuclear features through inflammatory changes [3]. The study also overlooks the influence of demographic factors, such as age and gender, which are known to impact PTC prognosis and histology [4]. Reliance on a subjective nuclear scoring system without digital validation raises concerns about reproducibility and inter observer variability [5]. Addressing these gaps is significant to improve the diagnostic accuracy and clinical relevance of morpho-molecular correlations in Papillary Thyroid Carcinoma. Future research should adopt more comprehensive and standardized approaches.