Searchable abstracts of presentations at key conferences in endocrinology
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European Congress of Endocrinology 2021

Online
22 May 2021 - 26 May 2021

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The European Congress of Endocrinology provides a global platform for the international endocrine community to discuss the latest advances in the field.

Plenary Lectures

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

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...