Searchable abstracts of presentations at key conferences in endocrinology

ea0029p1323 | Paediatric endocrinology | ICEECE2012

Kearns-Sayre syndrome: clinical and molecular diagnosis of the disease and treatment with recombinant GH (rGH) complicated by a severe cardiac conduction deficit and cardiomyopathy

Obara-Moszynska M. , Maceluch J. , Bobkowski W. , Baszko A. , Jaremba O. , Krawczynski M. , Niedziela M.

Introduction: Kearns-Sayre syndrome (KSS) is a rare mitochondrial cytopathy. The diagnosis of KSS is made on the classical triad of symptoms: onset of the disease <20 years of age, progressive external ophthalmoplegia (PEO) and pigmentary retinopathy (PR). KSS is manifested also by other systemic abnormalities: cardiac conduction defects, different neurological abnormalities and several endocrine disorders. A variety of deletions and/or duplications in mtDNA, affecting gen...