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...