Typical and Atypical Cases of Pendred's Syndrome in One Family

Pendred's syndrome is a condition which, in its complete form, is characterized by congenital deaf-mutism, goitre, and defective organic binding of iodide in the thyroid. However, there are less typical cases, e. g. without a goitre, with only limited hearing loss, or a normal perchlorate discharge test. A family was studied in which Pendred's syndrome was found in two generations. The complete form was present in two members; two other members were considered to show less typical forms of the same disorder. All were euthyroid. Three out of five sons were deaf-mute and goitrous. Perchlorate caused a discharge of radioiodine from the thyroid in two of them, and also in the father who had no goitre and a slight loss of hearing only detectable by audiometry. Peripheral deiodination of radioactive diiodotyrosine was normal in all patients, but had been abnormal in one son while he was hypothyroid.