title: [Pendred's syndrome: a cause of goiter associated with deafness].
abstract: Pendred's syndrome is an autosomal recessive disorder leading to congenital sensorineural hearing loss and a variable degree of goiter due to reduced iodine organification. The cause of this disease is dysfunction of an anion transporter protein located on the apical membrane of thyrocytes, called pendrin, which is also found in the kidney and cochlea. Molecular analysis of the gene is useful to identify other affected family members and provide proper genetic advice and early diagnosis in descendants. We present the cases of two siblings with sensorineural deafness who were diagnosed with Pendred's syndrome as adults because one of them consulted for goiter.
authors: Sección de Endocrinología y Nutrición, Complejo Hospitalario La Mancha Centro, Alcázar de San Juan, Ciudad Real, España. alvagmanzanares@hotmail.com
authors: Alvaro García-Manzanares
authors: AG
authors: Vázquez
authors: Irene Gonzalo
authors: IG
authors: Montesinos
authors: Agueda Muñoz
authors: AM
authors: Jiménez
authors: Jose Antonio Rubio
authors: JA
authors: García
authors: Javier Galipenzo
authors: JG
authors: García
authors: Julia Alvarez
authors: JA
authors: Hernández
mesh_terms: D000328:Adult; D001692:Biological Transport / Q000235:genetics; D004710:Endolymph / Q000378:metabolism; D005808:Genes, Recessive; D006042:Goiter / Q000235:genetics*; D006319:Hearing Loss, Sensorineural / Q000151:congenital / Q000235:genetics*; D006801:Humans; D033162:Incidental Findings; D007668:Kidney / Q000378:metabolism; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics* / Q000502:physiology; D000076988:Sulfate Transporters; D013577:Syndrome; D013961:Thyroid Gland / Q000378:metabolism
chemical_list: D026901:Membrane Transport Proteins; C085609:SLC26A4 protein, human; D000076988:Sulfate Transporters