Sharkia M, Michaud S, Berthier MT, Giguère Y, Stewart L, Deladoëy J, Deal CL, Van Vliet G, Chanoine JP. Thyroid Function from Birth to Adolescence in Prader-Willi Syndrome. J Pediatr 2013 (Epub 29 April 2013)
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 »
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 »
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.
Stoppa-Vaucher S, Lapointe A, Turpin S, Rydlewski C, Vassart G, Deladoëy J. Ectopic Thyroid Gland causing Dysphonia: Imaging and Molecular Studies. J Clin Endocrinol Metab 2010; 95: 4509-4510. Selected case report for the book Diagnostic Dilemmas published in 2011 by the Endocrine Society.
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 »