hrp0084p3-1193 | Thyroid | ESPE2015

NKX2-1 p.Asp266Argfs142X De Novo Mutation in a Girl with Congenital Hypothyroidism (CH): Phenotypic Description

Stoeva Iva , Thorwarth Anne , Stoilov Boris , Krude Heiko

Background: Ttf1−/− mice had complete absence of follicular and parafollicular cells, agenesis of lung parenchyma, ventral forebrain, and pituitary. Congenital hypothyroidism (CH) patients with chromosomal deletions encompassing the TTF1 locus and point mutations in the TTF1 gene confirmed its implication in the phenotype: CH with a thyroid gland in place, associated with respiratory distress syndro...