Open AccessHipotiroidismo congénito transitorio por defectos bialélicos del gen DUOX2. Dos casos clínicos
Author(s) -
Rosa Enacan,
María Eugenia Masnata,
Fiorella S. Belforte,
Patricia Papendieck,
María C. Olcese,
Sofía Siffo,
Laura GruñeiroPapendieck,
Héctor M. Targovnik,
Carina M. Rivolta,
Ana Chiesa
Publication year - 2017
Publication title -
archivos argentinos de pediatría
Language(s) - Spanish
Resource type - Journals
SCImago Journal Rank - 0.236
H-Index - 19
eISSN - 1668-3501
pISSN - 0325-0075
DOI - 10.5546/aap.2017.e162
Subject(s) - congenital hypothyroidism , levothyroxine , medicine , thyroid , allele , endocrinology , newborn screening , gene , biology , pediatrics , genetics
Congenital hypothyroidism affects 1:2000-3000 newborns detected by neonatal screening programs. Dual oxidases, DUOX1 and 2, generate hydrogen peroxide needed for the thyroid hormone synthesis. Hipotiroidismo congénito transitorio por defectos bialélicos del gen DUOX2. Dos casos clínicos Transient congenital hypothyroidism due to biallelic defects of DUOX2 gene. Two clinical cases Mutations in the DUOX2 gene have been described in transient and permanent congenital hypothyroidism. Two brothers with congenital hypothyroidism detected by neonatal screening with eutopic gland and elevated thyroglobulin are described. They were treated with levothyroxine until it could be suspended in both during childhood, assuming the picture as transient. Organification disorder was confirmed. Both patients were compounds heterozygous for a mutation in exon 9 of the paternal allele (c.1057_1058delTT, p.F353PfsX36 or p.F353fsX388) and in exon 11 of the maternal allele (c.1271T > G, p.Y425X) of DUOX2 gene. Our finding confirms that the magnitude of the defect of DUOX2 is not related to the number of inactivated alleles, suggesting compensatory mechanisms in the peroxide supply.