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- W2017728298 abstract "<b><i>Background:</i></b> Dyshormonogenetic goiter refers to familial goiters owing to an inherited defect in the metabolism of thyroid hormones. <b><i>Methods:</i></b> 19 patients with clinical and biochemically proven hypothyroidism (low T<sub>3</sub>, FT<sub>4</sub> and high TSH) were recruited for the study. All patients were subjected to (i) ultrasound of the neck to rule out thyroid dysgenesis and (ii) technetium-99m radionuclide thyroid scintigraphy and a perchlorate discharge test (PDT). Extrathyroidal malformations were identified by clinical ultrasound (USG) examination of the abdomen and pelvis and by echocardiography. <b><i>Results:</i></b> Out of 19 patients with elevated thyroid uptakes on technetium-99m thyroid scintigraphy, 12 (63%) had a positive PDT and 7 patients (37%) had a negative PDT. All patients were subjected to abdominopelvic USG and echocardiography. Out of 12 patients with a positive PDT, 5 (42%) had associated extrathyroid malformations, 2 had urogenital malformations, and cardiac abnormalities on echocardiography were present in 2 patients (17%). One patient (8%) had features of dysmorphism in the form of a high-arched palate, low-set ears and microcephaly. <b><i>Conclusion:</i></b> Congenital hypothyroidism due to dyshormogenesis is associated with a high prevalence of extrathyroidal malformations and needs to be managed as early as possible to ensure normal neurocognitive development of the children affected." @default.
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- W2017728298 date "2014-01-01" @default.
- W2017728298 modified "2023-09-25" @default.
- W2017728298 title "Thyroid Dyshormonogenesis and Associated Non-Thyroidal Anomalies in a Tertiary Care Hospital in India" @default.
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- W2017728298 doi "https://doi.org/10.1159/000357843" @default.
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