Searchable abstracts of presentations at key conferences in endocrinology

ea0035p326 | Clinical case reports Thyroid/Others | ECE2014

From hemoptysis to diagnosis of congenital hypothyroidism: a diagnostic pitfall

Szkudlarek Malgorzata , Szczepanek-Parulska Ewelina , Ziemnicka Katarzyna , Piatek Katarzyna , Golab Monika , Kaluzny Jaroslaw , Czepczynski Rafal , Ruchala Marek

Introduction: Congenital hypothyroidism (CH) is the most common congenital endocrine disorder. It occurs in Europe with an incidence of 1:3000–1:4000.Thyroid dysgenesis – agenesis, hypoplasia or ectopy – is responsible for 80–90% of CH cases. An ectopic thyroid gland is an uncommon inborn anomaly and is typically located along the thyroglossal duct. To date only few cases of CH due to lingual thyroid diagnosed in adulthood were reported in the literature.</...

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...