Clinical and laboratory features of children and adolescents with congenital hypothyroidism due to dyshormonogenesis in southern Brazil

• Autor(a) principal: Ramos,Juliana Cristina Romero Rojas
• Data de Publicação: 2012
• Outros Autores: Lacerda Filho,Luiz de, DeMartini,Adriane de André Cardoso, Silveira,Rodrigo Bruel da, Pereira,Rosana Marques, Sandrini Neto,Romolo, França,Suzana Nesi
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Arquivos Brasileiros de Endocrinologia & Metabologia (Online)
• Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27302012000300009
• topic: Congenital hypothyroidism; thyroid hormones; goiter; thyroglobulin

OBJECTIVE: To characterize the phenotype of patients with congenital hypothyroidism (CH) due to dyshormonogenesis, and to hypothesize on the degree of genetic defect. SUBJECTS AND METHODS: Patients with dyshormonogenesis were subdivided into G1 (radioactive iodine uptake, RAIU &gt; 15%; n = 62) and G2 (RAIU < 15%; n = 32). Thyroglobulin (TG) was measured in all patients; perchlorate discharge test (PDT) was performed in G1; and saliva-to-plasma radioiodine ratio (I- S/P) in G2. RESULTS: Levels of TSH, TT4, and FT4 before treatment and upon diagnosis confirmation were significantly different in both groups, but not between groups. In G1, 27 patients developed goiter; 17 had positive PDT (14%-71% discharge), 11 had TG < 2.5 ng/dL (one with high TSH), and one developed thyroid carcinoma. In G2, four patients developed goiter, and three had low I- S/P. CONCLUSION: These data suggest an iodide organification defect in 17 cases; an iodide transport defect (NIS defect) in three, probable TSH resistance in 10, and a TG synthesis defect in two cases.