Endocrine Abstracts

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...

NAFLD has become the most common cause of chronic liver disease in obese children.Two years-one month-old boy admitted to clinic for obesity. Parents were first cousin. Weight was 20 kg (>90p), height was 84 cm (50 p), BMI was 28.34 kg/m2 (>97 p). Physical examination was normal except diffuse hypertrichosis and right kriptoorchidism. On the follow-up, he never lost weight. At 4-years-old, FPG was 112 mg/dl, AST was 67 IU, ALT was 72 I...