Document Detail

Clinical, biochemical, and molecular findings in Argentinean patients with goitrous congenital hypothyroidism.
MedLine Citation:
PMID:  20972728     Owner:  NLM     Status:  In-Process    
We describe the clinical, biochemical, and molecular findings of a cohort of Argentinean patients with congenital hypothyroidism (CH) and goiter studied to characterize iodide organification and thyroglobulin (TG) defects. 20 CH patients (16 unrelated) were grouped according to serum TG levels and a perchlorate discharge test (PDT) in: group 1 (G1): nine patients with high TG and PDT > 10% who were studied for tiroperoxidase (TPO), dual oxidase 2 (DUOX2), and dual oxidase A2 (DUOXA2) defects and group 2 (G2): 11 patients with low TG and PDT < 10% studied for TG defects. Goiter characteristics, outcome, and TT₄ and TT₃ levels without treatment were compared between groups. 6/9 G1 patients harbored mutations in TPO gene and 3/9 in DUOX2 gene. In G2, mutations of TG gene were found in 3/11 homozygous, 5/11 compound heterozygous, and 3/11 heterozygous patients. Goiter was only evidenced by thyroid scan in the neonatal period in both groups; was moderately enlarged in patients diagnosed during infancy. In the late detected patients, goiter was big and nodular in G1 while diffuse and moderate in G2. Early detected patients grew and developed normally while those diagnosed late were severely mentally retarded in G1 and only mildly retarded in G2. Thyroid hormone levels of G1 were significantly lower than those of G2 P < 0.01. Molecular approach to characterize defects in organification and TG defects was optimized by TG measurements and PDT. Clinical and biochemical differences based on molecular findings will allow further investigations on genotype-phenotype relationships.
Ana Chiesa; Carina M Rivolta; Héctor M Targovnik; Laura Gruñeiro-Papendieck
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2010-10-23
Journal Detail:
Title:  Endocrine     Volume:  38     ISSN:  1559-0100     ISO Abbreviation:  Endocrine     Publication Date:  2010 Dec 
Date Detail:
Created Date:  2010-11-11     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9434444     Medline TA:  Endocrine     Country:  United States    
Other Details:
Languages:  eng     Pagination:  377-85     Citation Subset:  IM    
División Endocrinología, Hospital de Niños "Ricardo Gutiérrez", Centro de Investigaciones Endocrinológicas, CEDIE-CONICET, Gallo 1330, 1425 Buenos Aires, Argentina.
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