{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,8]],"date-time":"2026-07-08T05:25:25Z","timestamp":1783488325670,"version":"3.55.0"},"reference-count":26,"publisher":"Oxford University Press (OUP)","issue":"4","content-domain":{"domain":["eje.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2011,10]]},"abstract":"<jats:sec><jats:title>Context<\/jats:title><jats:p>Thyroid hormone transport across the plasma membrane depends on transmembrane transport proteins, including monocarboxylate transporter 8 (MCT8). Mutations in <jats:italic>MCT8<\/jats:italic> (or <jats:italic>SLC16A2<\/jats:italic>) lead to a severe form of X-linked psychomotor retardation, which is characterised by elevated plasma triiodothyronine (T<jats:sub>3<\/jats:sub>) and low\/normal thyroxine (T<jats:sub>4<\/jats:sub>). MCT8 contributes to hormone release from the thyroid gland.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objective<\/jats:title><jats:p>To characterise the potential impact of <jats:italic>MCT8<\/jats:italic>-deficiency on thyroid morphology in a patient and in <jats:italic>Mct8<\/jats:italic>-deficient mice.<\/jats:p><\/jats:sec><jats:sec><jats:title>Design<\/jats:title><jats:p>Thyroid morphology in a patient carrying the A224V mutation was followed by ultrasound imaging for over 10 years. After thyroidectomy, a histopathological analysis was carried out. The findings were compared with histological analyses of mouse thyroids from the <jats:italic>Mct8<\/jats:italic><jats:sup><jats:italic>\u2212\/y<\/jats:italic><\/jats:sup> model.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We show that an inactivating mutation in <jats:italic>MCT8<\/jats:italic> leads to a unique, progressive thyroid follicular pathology in a patient. After thyroidectomy, histological analysis revealed gross morphological changes, including several hyperplastic nodules, microfollicular areas with stromal fibrosis and a small focus of microfollicular structures with nuclear features reminiscent of papillary thyroid carcinoma (PTC). These findings are supported by an <jats:italic>Mct8-null<\/jats:italic> mouse model in which we found massive papillary hyperplasia in 6- to 12-month-old mice and nuclear features consistent with PTC in almost 2-year-old animals. After complete thyroidectomy and substitution with levothyroxine (<jats:sc>l<\/jats:sc>-T<jats:sub>4<\/jats:sub>), the preoperative, inadequately low T<jats:sub>4<\/jats:sub> and free T<jats:sub>4<\/jats:sub> remained, while increasing the <jats:sc>l<\/jats:sc>-T<jats:sub>4<\/jats:sub> dosage led to T<jats:sub>3<\/jats:sub> serum concentrations above the normal range.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Our results implicate peripheral deiodination in the peculiar hormonal constellation of <jats:italic>MCT8<\/jats:italic>-deficient patients. Other <jats:italic>MCT8<\/jats:italic>-deficient patients should be closely monitored for potential thyroid abnormalities.<\/jats:p><\/jats:sec>","DOI":"10.1530\/eje-11-0369","type":"journal-article","created":{"date-parts":[[2011,8,4]],"date-time":"2011-08-04T04:24:03Z","timestamp":1312431843000},"page":"555-561","update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-1","source":"Crossref","is-referenced-by-count":43,"title":["Monocarboxylate transporter 8 deficiency: altered thyroid morphology and persistent high triiodothyronine\/thyroxine ratio after thyroidectomy"],"prefix":"10.1093","volume":"165","author":[{"given":"Eva 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