CONTRATADOS
TARGOVNIK Hector Manuel
congresos y reuniones científicas
Título:
Hyperthyroidism secondary to an activating mutation in the thyrotropin receptor gene
Autor/es:
DUJOVNE NOELIA; LAZZATI JUAN M ; GAZEK NATALIA; ADROVER, EZEQUIELA; ZAIDMAN VERÓNICA; MOLINA MARICEL; FELIPE LAURA; AYARZABAL VICTOR ; MACEIRAS MERCEDES; FIGUEROA VERÓNICA; COSTANZO MARIANA; TARGOVNIK , HÉCTOR; RIVOLTA CARINA M; BELGOROSKY ALICIA; HERZOVICH, VIVIANA
Lugar:
Washington D.C.
Reunión:
Congreso; 10th International Meeting of Pediatric Endocrinology; 2017
Institución organizadora:
PES-APEG-APPES-ASPAE-CSPEM-ESPE-JSPE-SLEP
Resumen:
Objectives: TSH receptor (TSHR) activating germline mutations are a rare cause of neonatal non-autoimmune hyperthyroidism (nNAH). This form of hyperthyroidism persists indefinitely. Surgery or radioactive iodine is indicated eventually. Methods: We report a case of severe congenital hyperthiroidism without family history of thyroid disease. Results: The female patient was born in the 41st week of gestation, birth weight was 2590 gr. (SDS -1.45). She was hospitalized since birth due to choanal atresia, congenital heart disease, and supraventricular extrasystoles and received amiodarone for two days. At 21 days of life she was admitted to our institution. Thyroid function test confirmed the diagnosis of hyperthyroidism (TSH
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