ESPE Abstracts

A girl, who was born to non-consanguineous Afghan parents, was detected with high TSH on newborn blood spot screening. Her venous blood results had elevated TSH level (31.31mU/L), normal free T4 level (10.2pmol/L) and normal thyroglobulin. Isotope scan showed normal uptake and anatomically normal position of thyroid. L-thyroxin treatment was commenced soon. Since early life she had recurrent respiratory distress and recurrent chest infections needing prolonged oxygen therapy. Her motor development was markedly delayed. Subtle dymorphisms and central hypotonia was present. Due to the unusual and unexplained combination of these features microarray was done and showed micro-deletion in Chromosome 14 involving NKX2-1 gene associated with Brain-Lung-Thyroid syndrome. The severity of signs and symptoms in our case explains variable expressivity of this genetic condition. Even though mutations in this gene is also associated with movement disorders, this 22 months old girl does not show choreiform movements yet. Her parents are healthy and have normal thyroid profiles. Her rest of blood and urine investigations for developmental delay screening were normal