TARGOVNIK Hector Manuel
congresos y reuniones científicas
A NEW FAMILIAR CASE OF CONGENITAL GOITER WITH HYPOTHYROIDISM CAUSED BY HOMOZYGOUS MUTATION IN THE THYROGLOBULIN GENE
PELLIZAS, CLAUDIA GRACIELA; SOBRERO, G.; BOYANOVSKI, A.; NIEVA, V.; TESTA, G.; BAZZARA, L.; DIPOI, M.; MACHIAVELLE, GLORÍA ANGÉLICA; RIVOLTA, CARINA MARCELA; TARGOVNIK , HÉCTOR MANUEL; MIRAS, MIRTA B.
Mar del Plata
Congreso; XIX Reunión Anual de la Sociedad Latinoamericana de Endocrinología Pediátrica (SLEP); 2007
Sociedad Latinoamericana de Endocrinología Pediátrica (SLEP)
The prevalence of Congenital Hypothyroidism (CH) in Córdoba city is 1/2185 newborns. Eutopic thyroid glands were seen in 41 % of these patients. In order to ascertain a dishormonogenesis in 5 unrelated patients with a marked impairment of thyroglobulin (TG) levels, goitrous thyroid glands with increased radioisotopic uptake, serum thyrotropin augmented and low thyroid hormone levels, genomic DNA was analyzed with the aim of search for a TG synthesis defect. DNA sequencing from one of the studied patients revealed an homozygous mutation in exon 7 (c.886C>T) determining a premature stop codon at amino acid 277 (p.R277X) that results in a grossly truncated protein of only 276 amino acids with marked reduction in the ability to generate thyroid hormone. Two other brothers of this patient, previously diagnosed with CH, exhibited the same mutation, one of them with asevere mental retardation as a consequence of a late diagnosis. The same mutation was previously identified in brazilian and argentinean families. To conclude, we report here a new case of congenital goitrous hypothyroidism, in an Argentinean family, that is homozygous for the p.R277X mutation. The present study suggests that this TG mutation gene is a mutational hot spot.