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ea0073pl7 | Plenary 7: Central and Eastern European heritage in genetics of hypopituitarism – how the prevalent ancestral PROP 1 gene variants spread overseas | ECE2021

Central and Eastern European heritage in genetics of hypopituitarism – how the prevalent ancestral PROP1 gene variants spread overseas

Lebl Jan

Pituitary development is governed by activation of a cascade of transcription factors that orchestrate both pituitary morphogenesis and differentiation. Among them, loss of function of PROP1 is the most common genetic cause of combined pituitary hormone deficiency (CPHD) with two PROP1 gene variants (c.[301_302delAG];[301_302delAG] and c.[150delA];[150delA]) being most prevalent. We identified the homozygous c.[301_302delAG] variant in 70% out of 67 Lithuania...

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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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Endocrine Abstracts

Central and Eastern European heritage in genetics of hypopituitarism – how the prevalent ancestral PROP1 gene variants spread overseas

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

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