Publications by authors named "Rosa Maria Lovicu"

Ectopic thyroid tissue is an abnormality caused by aberrant thyroid gland embryogenesis during its passage from the floor of the primitive foregut to its final position. The most frequent place of ectopic thyroid tissue is the base of tongue, whereas lateral thyroid gland is a very rare finding. The present case describes a case of thyroid dysgenesis, caused by a submandibular ectopic thyroid gland.

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Background: Resistance to thyroid hormone (RTH) is a genetic disease characterized by a reduced responsiveness of the pituitary and peripheral target tissues to TH. We describe two patients with RTH in whom differentiated thyroid cancer was diagnosed.

Patient Findings: In both patients, RTH was unequivocally diagnosed and both underwent thyroidectomy for multinodular goiter.

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Objectives: To report a first case of 21-hydroxylase deficiency associated with a new genotype determined by V281+I172N/V281L mutations of the CYP21A2 gene.

Design And Methods: Direct genetic sequencing of CYP21A2 gene was performed.

Results: Both siblings had the same genotype, namely V281+I172N/V281L, while their parents resulted as V281L and V281+I172N carriers, respectively.

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