Searchable abstracts of presentations at key conferences in endocrinology

ea0016p698 | Thyroid | ECE2008

Absence of sonic hedgehog mutations in a large cohort of children with thyroid dysgenesis

Muzza Marina , de Filippis Tiziana , Gastaldi Roberto , Weber Giovanna , Lorini Renata , Beck-Peccoz Paolo , Persani Luca , Fugazzola Laura

Thyroid dysgenesis accounts for 75% of all cases of congenital hypothyroidism (CH), and includes thyroid agenesis or hemiagenesis, thyroid hypoplasia, and thyroid ectopy. Thyroid transcription factors TTF-1, TTF-2 and Pax-8, which are involved in the development of the thyroid gland and its normal migration, have been indicated as the best candidate genes but have been found to be mutated in a minority of cases. Sonic Hedgehog (Shh) protein is involved in several key events du...

ea0063gp176 | Benign Thyroid Disorders | ECE2019

Do different initial doses of L-T4 within the range of 10–15 mcg/kg/die influence neurodevelopment during the first two years of life in children with congenital hypothyroidism?

Moracas Cristina , Ciccarelli Gian Paolo , Bravaccio Carmela , Cassio Alessandra , Gastaldi Roberto , Mussa Alessandro , Polizzi Miriam , Vigone Maria Cristina , Wasniewska Malgorzata Gabriela , Weber Giovanna , Salerno Mariacarolina

Background: The initial L-T4 dose in the treatment of congenital hypothyroidism (CH) currently recommended is 10–15 mcg/kg/die.Objective: We designed a multicenter randomized trial to evaluate the effects of different starting dose of L-T4 within the range 10–15 mcg/kg/die on neurocognitive development in children with CH.Methods: Seventy-two children with CH diagnosed by neonatal screening were enrolled in the study. The...