hrp0095p2-188 | Growth and Syndromes | ESPE2022

Kearns-Sayre syndrome – a rare cause of growth hormone deficiency

Braovac Duje , Vinkovic Maja , Krnic Nevena , Lehman Ivan , Jovanovic Ivan , Matkovic Hana , Dumic Kubat Katja

Background: Kearns – Sayre syndrome (KSS) is a rare mitochondropathy. Among chronic progressive external opthalmoplegia, pigmentary retinal degeneration and ataxia that are present in most patients before age of 20 years, a significant proportion of patients also have various endocrine deficiencies.Case report: We report on a previously healthy boy who presented at the age of 8 years to the endocrine clinic due to ...