Kearns-Sayre syndrome (KSS) is characterized by external ophthalmoplegia, retinal pigmentation and cardiac conduction defects due to mitochondrial DNA (mtDNA) deletions. Short stature and growth hormone (GH) deficiency have been reported in KSS, but data on GH treatment is limited. We describe the clinical presentation, phenotype evolution, and response to GH in a patient with KSS and report data on eight additional KSS patients from the KIGS database. Our patient with KSS and GH deficiency achieved a final adult height at -0.8 SDS. In the KIGS database GH treatment resulted in mean improvement in height from -3.9 to -2.9 SDS in patients with KSS. Two patients did not show growth improvement. Our data shows improvement in height SDS in our patient and mixed results in eight additional patients from the KIGS database after treatment with GH. Heterogeneity in responsiveness may relate to presence of GH deficiency or severity of underlying mitochondrial dysfunction.
Efficacy of growth hormone therapy in Kearns-Sayre syndrome: the KIGS experienceAll Scholarly Works
Document TypeArticle, Peer-reviewed
Citation InformationQuintos JB, Hodax JK, Gonzales-Ellis BA, Phornphutkul C, Wajnrajch MP, Boney CM. Efficacy of growth hormone therapy in Kearns-Sayre syndrome: the KIGS experience. J Pediatr Endocrinol Metab. 2016 Nov 1;29(11):1319-1324.