ea0035p796 | Paediatric endocrinology | ECE2014
Guven Ayla
, Ozer Isil
, Ardagil Aylin
Kearns-Sayre syndrome (KSS) is a mitochondrial disorder characterized by progressive external ophthalmoplegia, pigmentary retinopathy, together with cardiac conduction defects, muscle abnormalities and endocrinopathies such as growth hormone deficiency (GHD), diabetes and hypoparathyroidism.We present a 2 years 9 months-old boy with clinical and biochemical diagnosis of KSS and GHD. He was referred with failure-to-thrive. He was born at term from healthy...