Endocrine Abstracts

Neonatal screening for congenital hypothyroidism (CH) in the Republic of Macedonia was piloted in 2002 and implemented nationally in 2007, demonstrating a CH incidence of 1 in 1916. 52.7% cases exhibit a normally-located gland-in-situ (GIS CH), however, although this may indicate genetically-mediated dyshormonogenesis, genetic stratification has not previously been undertaken. We selected singleton GIS CH cases (n=22), born at term, with birth weight >3000 g in wh...