Jamal M N, Arnaout M A, Jarrar R
Department of Otolaryngology, Faculty of Medicine, University of Jordan, Amman, Jordan.
Ann Otol Rhinol Laryngol. 1995 Dec;104(12):957-62. doi: 10.1177/000348949510401208.
Four families, 29 members, with Pendred's syndrome were studied to clarify hearing loss and hormonal status. The ages ranged from 3 to 50 years. Complete Pendred's syndrome was found in 9 patients. They had bilateral profound hearing loss with residual hearing at low frequencies. Goiter was diagnosed at the age of 1 to 14 years with a positive perchlorate discharge test. Twelve of the patients' relatives showed partial Pendred's syndrome. Mild sensorineural hearing losses occurred in the low- and medium-range frequencies with normal perchlorate discharge test results in 6 cases. The other 6 had a slight drop in the perchlorate discharge test results with normal hearing. Five subjects were normal and 3 had normal hormonal and normal perchlorate discharge test results, but were not tested audiologically. This paper shows that patients with Pendred's syndrome may have goiter at birth or develop it between 8 and 14 years, that their deafness is bilateral and profound, and that their perchlorate discharge tests are positive. Relatives of Pendred's syndrome patients showed mild low-frequency sensorineural hearing loss without goiter and normal perchlorate discharge test results in half the cases, and a slight drop in the perchlorate discharge test results with normal hearing and without goiter in the other half. A correlation between these findings and genetic studies needs further investigation.
对4个家族的29名患有彭德莱德综合征的成员进行了研究，以明确听力损失和激素状况。年龄范围为3至50岁。9名患者被诊断为完全性彭德莱德综合征。他们患有双侧重度听力损失，低频有残余听力。甲状腺肿在1至14岁时被诊断出来，高氯酸盐释放试验呈阳性。12名患者的亲属表现出部分彭德莱德综合征。6例患者在中低频出现轻度感音神经性听力损失，高氯酸盐释放试验结果正常。另外6例高氯酸盐释放试验结果略有下降，但听力正常。5名受试者正常，3名激素及高氯酸盐释放试验结果正常，但未进行听力检查。本文表明，彭德莱德综合征患者可能在出生时就患有甲状腺肿，或在8至14岁之间发病，他们的耳聋是双侧性且重度的，高氯酸盐释放试验呈阳性。彭德莱德综合征患者的亲属中，一半病例表现为轻度低频感音神经性听力损失，无甲状腺肿，高氯酸盐释放试验结果正常；另一半病例高氯酸盐释放试验结果略有下降，听力正常，无甲状腺肿。这些发现与基因研究之间的相关性需要进一步研究。
