[Pendred's syndrome: a cause of goiter associated with deafness].
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.
Vázquez
Alvaro García-Manzanares
AG
Sección de Endocrinología y Nutrición, Complejo Hospitalario La Mancha Centro, Alcázar de San Juan, Ciudad Real, España. alvagmanzanares@hotmail.com
Montesinos
Irene Gonzalo
IG
Jiménez
Agueda Muñoz
AM
García
Jose Antonio Rubio
JA
García
Javier Galipenzo
JG
Hernández
Julia Alvarez
JA
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
D026901:Membrane Transport Proteins; C085609:SLC26A4 protein, human; D000076988:Sulfate Transporters