Hyperthyroidism secondary to an activating mutation in the thyrotropin receptor gene

BELGOROSKY ALICIA; COSTANZO MARIANA; AYARZABAL VICTOR ; ZAIDMAN VERÓNICA; LAZZATI, JUAN; RIVOLTA CARINA M.; FIGUEROA VERÓNICA; FELIPE LAURA; ADROVER, EZEQUIELA; DUJOVNE NOELIA; HERZOVICH, VIVIANA; TARGOVNIK , HÉCTOR M.; MACEIRAS MERCEDES; MOLINA MARICEL; GAZEK NATALIA

Washington D.C.

Congreso; 10th International Meeting of Pediatric Endocrinology; 2017

PES-APEG-APPES-ASPAE-CSPEM-ESPE-JSPE-SLEP

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