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Ruchala M et al. – The results revealed that individuals with THA are more likely to develop thyroid pathology. The observed high incidence of associated pathologies is presumably due to long–lasting TSH overstimulation. Therefore, THA diagnosis should be followed by systematic observation and adequate levothyroxine treatment, in patients with elevated TSH level.


Exclusive Author Commentary
Marek Ruchala, 11/22/09

Thyroid hemiagenesis (THA) is a rare entity, the prevalence of which is estimated at 0.05-0.2% of population. Thus far the anomaly has been regarded by clinicians as rather benign and requiring no treatment. However, the discussion on the clinical significance of congenital agenesis of one thyroid lobe is still ongoing, because no endocrine committees’ guidelines have taken a position on the management of those patients. Thorough review of the literature regarding THA reveals that this anomaly so far has been mainly reported in case studies, while large cohorts of subjects have rarely been analyzed as a group. Our paper describes the first systematic case-control analysis of a uniquely large group of subjects diagnosed with THA. The cohort of 40 patients with THA described in the paper was the largest ever reported. From the moment of sending the paper for review up to now, authors have found 13 more patients with THA, what together makes 53 patients diagnosed with THA at our department. The analysis performed on the larger group of subjects have supported our previous conclusions. Although hormonal function of a single lobe was usually found sufficient to maintain clinical euthyroidism, it is predominantly accomplished by intensified stimulation of the undersized thyroid gland with TSH and enhanced conversion of thyroxine (T4) to triiodothyronine (T3). Comparison with a control group having normally developed thyroid gland discloses a higher incidence of associated thyroid autoimmune disorders (mainly Hashimoto’s thyroiditis), thyroid dysfunction (predominantly hypothyroidism) as well as thyroid morphological abnormalities (heterogeneous, decreased echogenicity and thyroid focal lesions) among patients with THA. Analysis of a larger group of subjects with THA elucidated even more significant positive correlation between the volume of hemiagenetic thyroid and age of diagnosis. On the opposite, a negative correlation between the age of evaluation and TSH level was observed. This might be related to compensative enlargement of congenitally undersized gland with age, due to long-lasting TSH overstimulation. Unfortunately, this is also accompanied with development of nodular goiter and thyroid autoimmune diseases. As a main outcome of the study, authors conclude that diagnosis of THA, at a minimum, should be followed by systematic observation and that adequate L-thyroxine substitution, as a prevention or treatment, should be administered for subjects with elevated TSH levels. This represents a novel approach to an anomaly, which was to date mostly underestimated and regarded rather harmless. Novel conclusions were achievable due to the possibility to collectively analyze a large cohort of patients managed at a single department.

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