Treating Congenital Hypothyroidism in Infants and Children: which levothyroxine?

Treating Congenital Hypothyroidism in Infants and Children: which levothyroxine?

Deladoëy J and Van Vliet G. Treating Congenital Hypothyroidism: which levothyroxine? Nat Rev Endocrinol 2013 (Epub 5 March 2013) Importantly, parents of infants with congenital hypothyroidism must be reassured that, provided that their infant’s serum TSH concentration is not markedly raised after the first 2 weeks of treatment and that monitoring at regular intervals occurs, … Continue reading »

congenital hypothyroidism: becoming more frequent ?

congenital hypothyroidism: becoming more frequent ?

Deladoëy J, Ruel J, Giguère Y, Van Vliet G. Is the incidence of congenital hypothyroidism really increasing? A 20-year retrospective population-based study in Québec. J Clin Endocrinol Metab 2011; 96: 2422–2429. Highlighted by an editorial (J Clin Endocrinol Metab 2011; 96: 2395–2397). Induced a change in screening protocol in Quebec (higher threshold for 2nd test … Continue reading »

Variation by Ethnicity in the Prevalence of Congenital Thyroid Malformation

Variation by Ethnicity in the Prevalence of Congenital Thyroid Malformation

Stoppa-Vaucher S, Van Vliet G, Deladoëy J. Variation by Ethnicity in the Prevalence of Congenital Hypothyroidism due to Thyroid Dysgenesis. Thyroid 2011; 21(1):13-8. Thyroid dysgenesis is less prevalent in Blacks and more prevalent in Caucasians. Blacks being more genetically diverse, this suggests oligogenic mechanisms accounting for thyroid dysgenesis.

a mutation in TPO

a mutation in TPO

Deladoëy J, Pfarr N, Vuissoz JM, Parma J, Vassart G, Biesterfeld S, Pohlenz J, Van Vliet G. Pseudodominant inheritance of goitrous congenital hypothyroidism caused by TPO mutations: molecular and in silico studies. J Clin Endocrinol Metab 2008; 93: 627-633. We reported a pedigree presenting with pseudodominant goitrous CH due to segregation of three different TPO … Continue reading »