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ea0035p931 | Pituitary Clinical (<emphasis role="italic">Generously supported by IPSEN</emphasis>) | ECE2014

Population-based cohort study: PROP1 gene mutations are the most prevalent cause of congenital multiple pituitary hormone deficiency in Lithuania

Navardauskaite Ruta , Dusatkova Petra , Obermannova Barbora , Pfaeffle Roland W , Blum Werner F , Adukauskiene Dalia , Smetanina Natalija , Cinek Ondrej , Verkauskiene Rasa , Lebl Jan

Introduction: Congenital multiple pituitary hormone deficiency (MPHD) may result from defects of transcription factors that govern the early pituitary development. The most prevalent are two mutation of PROP1 gene: the c.296delGA and c.150delA.Methods: Seventy-five Lithuanian MPHD patients were tested for PROP1 defects. Perinatal and postnatal data were obtained from medical records. Hormonal investigations, pituitary imaging and GH the...

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Population-based cohort study: PROP1 gene mutations are the most prevalent cause of congenital multiple pituitary hormone deficiency in Lithuania

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