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385,781 results
  • Double variants in TSHR and DUOX2 in a patient with hypothyroidism: case report. [Case Reports]
    J Pediatr Endocrinol Metab 2019Sasivari Z, Szinnai G, … Lang-Muritano M
  • Thyroid dyshormonogenesis (TDH) is characterized by the defective synthesis of thyroid hormones. We present a patient with congenital hypothyroidism (CH) who presented in newborn screening with elevated serum thyroid-stimulating hormone (TSH), decreased free thyroxine (fT4) and increased thyroglobulin (Tg) concentrations. Ultrasound scan revealed a properly structured thyroid gland. Treatment wit…
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