Thyroid Hemiagenesis and Associated Disorders
Summary
Thyroid hemiagenesis is a rare congenital anomaly characterised by the unilateral absence of one thyroid lobe, often with concurrent agenesis of the isthmus. Epidemiological estimates suggest a prevalence of 0.05–0.5 %, with a strong female predominance and a left-side bias. While most individuals remain euthyroid and asymptomatic, the solitary lobe may undergo compensatory hypertrophy or dysfunction, leading to hypothyroidism, hyperthyroidism, nodular goitre or autoimmune thyroiditis. Associations with parathyroid adenomas, congenital malformations and thyroid carcinoma further underscore its clinical importance. Diagnosis relies primarily on high-resolution ultrasonography, supplemented by thyroid scintigraphy or cross-sectional imaging to distinguish congenital absence from post-surgical changes. Management is dictated by functional status and coexisting pathology, ranging from conservative surveillance to levothyroxine replacement or surgical excision. Research is increasingly focused on elucidating genetic and embryological mechanisms, evaluating the impact of chronic thyroid-stimulating hormone overstimulation on autoimmunity, and refining imaging criteria to improve diagnostic accuracy. Greater awareness and systematic evaluation are essential for optimal patient care and to appreciate the global significance of this under-recognised anomaly.
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Thyroid Hemiagenesis and Associated Disorders publication trend
The graph below shows the total number of articles in thyroid hemiagenesis and associated disorders across all publications each year (not limited to Nature Index journals).
Technical terms
Isthmus: The narrow band of thyroid tissue connecting the two lobes.
Scintigraphy: A nuclear medicine imaging technique using radiotracers to visualise thyroid tissue and assess function.
TI-RADS: Thyroid Imaging, Reporting and Data System; a structured scoring system for evaluating thyroid nodule malignancy risk.
Levothyroxine replacement: Administration of synthetic thyroid hormone (T4) to compensate for inadequate endogenous production.
References
- Computed tomography findings of thyroid hemiagenesis: differentiation from hemithyroidectomy. BMC Medical Imaging (2023).
- Thyroid Hemiagenesis: Narrative Review and Clinical Implications. Cureus (2022).
- Does TSH Trigger the Anti-thyroid Autoimmune Processes? Observation on a Large Cohort of Naive Patients with Thyroid Hemiagenesis. Archivum Immunologiae et Therapiae Experimentalis (2016).
- Thyroid hemiagenesis with a TI-RADS 2 nodule in the contralateral lobe. Thyroid Research (2021).
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