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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...

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ea0035p338 | Developmental Endocrinology | ECE2014

Genome-wide survey for clinically relevant structural abnormalities contributing to pathogenesis of combined pituitary hormone deficiency (CPHD) with childhood onset.

Budny Bartlomiej , Rydzanicz Malgorzata , Szymczak Klaudia , Szkudlarek Malgorzata , Wolinski Kosma , Wrotkowska Elzbieta , Baszko-Blaszyk Daria , Goleb Monika , Bednarczuk Tomasz , Ambroziak Urszula , Niedziela Marek , Obara-Moszynska Monika , Rabska Barbara , Derebecka Natalia , Bluijssen Hans , Wesoly Joanna , Ruchala Marek , Ziemnicka Katarzyna

Introduction: Combined pituitary hormone deficiency (CPHD) results in deficit of growth hormone and coexisting failure of synthesis or excretion at least another pituitary hormone. Transcription factors controlling expression of genes required for pituitary organogenesis are orchestrating entire development process and certain cell lineages differentiation, contributing therefore significantly to CPHD pathogenesis with childhood onset.Aims: The purpose o...

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Endocrine Abstracts

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

Genome-wide survey for clinically relevant structural abnormalities contributing to pathogenesis of combined pituitary hormone deficiency (CPHD) with childhood onset.

BiosciAbstracts