Document Detail

Clinical and laboratory features of children and adolescents with congenital hypothyroidism due to dyshormonogenesis in southern Brazil.
MedLine Citation:
PMID:  22666737     Owner:  NLM     Status:  In-Data-Review    
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 > 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.
Juliana Cristina Romero Rojas Ramos; Luiz de Lacerda Filho; Adriane de André Cardoso Demartini; Rodrigo Bruel da Silveira; Rosana Marques Pereira; Romolo Sandrini Neto; Suzana Nesi França
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Arquivos brasileiros de endocrinologia e metabologia     Volume:  56     ISSN:  1677-9487     ISO Abbreviation:  Arq Bras Endocrinol Metabol     Publication Date:  2012 Apr 
Date Detail:
Created Date:  2012-06-05     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0403437     Medline TA:  Arq Bras Endocrinol Metabol     Country:  Brazil    
Other Details:
Languages:  eng     Pagination:  201-8     Citation Subset:  IM    
Unidade de Endocrinologia Pediátrica, Departamento de Pediatria, Hospital de Clínicas, Universidade Federal do Paraná (HC-UFPR).
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