PENDREDS SYNDROME


KABAKKAYA Y., BAKAN E., GOKCE G., YIGITOGLU M., DOGAN M.

ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY, cilt.102, ss.285-288, 1993 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 102 Konu: 4
  • Basım Tarihi: 1993
  • Doi Numarası: 10.1177/000348949310200407
  • Dergi Adı: ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY
  • Sayfa Sayıları: ss.285-288

Özet

Although 5% of all cases of congenital deafness are caused by Pendred's syndrome, there are few reports in the literature. Seven patients with Pendred's syndrome in three families living in the same village were detected. For that reason, the syndrome is reviewed in light of the literature. The sex distribution of the patients with Pendred's syndrome and their families was recorded. We tested for thyroxine, triiodothyronine, thyroid-stimulating hormone, triiodothyronine resin uptake, and perchlorate, and performed caloric testing. In one patient, subtotal thyroidectomy was performed. In the histopathologic study, a thyroid nodule filled with colloid was found. Chromosome studies showed no anomalies in any patient. Five of the patients were deaf-mutes. We observed that the parents were cousins in all three families. These families also had healthy children, and the existence of the syndrome in both sexes points to an autosomal recessive trait.