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

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