Pendred's Syndrome: A Study of Patients and Relatives

Abstract

Four families, 29 members, with Pendred's syndrome were studied to clarify hearing loss and hormonal status. The ages ranged fro 3 to 50 years. Complete Pendred's syndrome was found in 9 patients. They had bilateral profound hearing loss with residual hearing low frequencies. Goiter was diagnosed at the age of 1 to 14 years with a positive perchlorate discharge test. Twelve of the patient relatives showed partial Pendred's syndrome. Mild sensorineural hearing losses occurred in the low- and medium-range frequencies wi normal perchlorate discharge test results in 6 cases. The other 6 had a slight drop in the perchlorate discharge test results with norm hearing. Five subjects were normal and 3 had normal hormonal and normal perchlorate discharge test results, but were not teste audiologically. This paper shows that patients with Pendred's syndrome may have goiter at birth or develop it between 8 and 14 year that their deafness is bilateral and profound, and that their perchlorate discharge tests are positive. Relatives of Pendred's syndrorr patients showed mild low-frequency sensorineural hearing loss without goiter and normal perchlorate discharge test results in half tl cases, and a slight drop in the perchlorate discharge test results with normal hearing and without goiter in the other half. A correlatic between these findings and genetic studies needs further investigation.