Pendred sendromu konjenital sağırlık ve guatr ile karakterize otozomal resesif geçiş gösteren bir hastalıktır Bu çalışmada hastanemiz pediatrik endokrinoloji polikliniğine guatr ve veya sağırlık şikayetleriyle müracaat eden klinik ve laboratuar bulgularıyla Pendred sendromu tanısı alan beş vaka retrospektif olarak incelendi Vakalar yaş cinsiyet tiroid hormon seviyeleri sağırlık ve guatrın derecesi ve eşlik eden ilave bulgular yönünden değerlendirildi Anahtar kelimeler: Pendred Sendromu Konjenital Sağırlık Guatr

Pendred syndrome characterized by congenital deafness and goiter is transmitted in an autosomal recessive fashion In this study five patients who admitted to our pediatric endocrinology clinic with goiter and or deafness and diagnosed as Pendred syndrome according to the clinical and laboratory findings were reviewed retrospectively The patients were investigated for age sex thyroid hormon levels degree of deafness and goiter and other findings associated with the disease Key words: Pendred Syndrome Congenital Deafness Goiter