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ea0016p770 | Thyroid | ECE2008

New mutations demonstrate intracellular iodine retention in Pendred syndrome

Garcia-Rendueles MER , Bravo SB , Palos F , Cameselle-Teijeiro J , Czarnocka B , Dominguez-Gerpe L , Lado-Abeal J , Alvarez CV

Pendred syndrome is an autosomal recessive disorder with congenital-sensorineural deafness and goiter due to mutations in SLC26A4, that encodes a transmembrane protein, Pendrin. In thyrocytes, Pendrin is proposed to act at the apical pole to transport intracellular iodide into the follicular lumen.A Galician Pendred compound heterozygous patient was studied; a c.297delT in exon 3 and a new splicing-mutation c.416-1G<A were found, introducing p...

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ea0011p809 | Thyroid | ECE2006

Study of the prevalence and mechanisms of action of TSH receptor and Gs protein alfa-subunit mutations, in toxic multinodular goiter and toxic adenoma from Galicia (Spain)

Palos F , Perez O , Alvarez-Iglesias V , Cameselle J , Barreiro F , Araujo D , Argueso R , Botana M , Cabezas JM , Dominguez L , Martinez T , Nuño J , Rueda JC , Lado-Abeal J

Toxic adenomas (TA) and toxic multinodular goiters (TMNG) are frequent causes of hyperthyroidism in Galicia, an endemic goiter area. In some European countries, 4080% of toxic goiters are caused by TSH receptor (TSHr) and Gs alfa-subunit (Gsa) mutations that activate cAMP pathway.Aims: To study 1) the prevalence of TSHr and Gsa mutations in TMNG and TA from Galicia, 2) the clonality of sequenced samples, 3) the constitutive activity of the identifi...

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Endocrine Abstracts

New mutations demonstrate intracellular iodine retention in Pendred syndrome

Study of the prevalence and mechanisms of action of TSH receptor and Gs protein alfa-subunit mutations, in toxic multinodular goiter and toxic adenoma from Galicia (Spain)

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