| Abstract | 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. |
| Authors | Y Kabakkaya, E Bakan, M R Yiğitoğlu, G Gökçe, M Doğan
(Affiliation: Department of Otolaryngology, Orta Doğu Private Hospital, Erzurum, Turkey.)
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| Journal | The Annals of otology, rhinology, and laryngology
(Ann Otol Rhinol Laryngol)
Vol. 102
Issue 4 Pt 1
Pg. 285-8
(Apr 1993)
ISSN: 0003-4894 UNITED STATES |
| PMID | 8476169
(Publication Type: Case Reports, Journal Article)
|
| Topics |
- Adolescent
- Adult
- Child
- Deafness
(congenital, diagnosis, genetics)
- Family Health
- Female
- Goiter, Endemic
(congenital, diagnosis, genetics, surgery)
- Humans
- Male
- Sex Factors
- Syndrome
|
