Searchable abstracts of presentations at key conferences in endocrinology

ea0056gp125 | Endocrine Case Reports | ECE2018

Hyperinsulinaemic hypoglycaemia in the three generations of a family with GCK, c.295T>C (p.Trp99Arg) mutation

Gilis-Januszewska Aleksandra , Skalniak Anna , Wilusz Malgorzata , Sokolowski Grzegorz , Walczyk Joanna , Pantoflinski Jacek , Pach Dorota , Przybylik-Mazurek Elwira , Hubalewska-Dydejczyk Alicja

Background: Familial Hyperinsulinaemic hypoglycaemia (FHH) is a very rare disease with heterogeneous clinical manifestation causing risk of late diagnosis or even misdiagnosis. In infants and children, it can lead to serious and permanent damage to the central nervous system. FHH has been correlated with mono-gene mutations in approximately 48% of cases. Clinical manifestation may vary even in the same affected GCK mutation family.Objective: To describe ...

ea0063p841 | Adrenal and Neuroendocrine Tumours 3 | ECE2019

Malignant paraganglioma of the urinary bladder-diagnosis and management – a case report

Gilis-Januszewska Aleksandra , Rzepka Ewelina , Paczkowska Katarzyna , Bryk Agata , Walczyk Joanna , Morawiec-Sławek Karolina , Pantofliński Jacek , Sowa-Staszczak Anna , Opalińska Marta , Pach Dorota , Hubalewska-Dydejczyk Alicja

Introduction: Paragangliomas (PGL) are rare tumours of neuroendocrine origin. Those localized in urinary bladder account for 10% of all PGL. They arises from chromaffin tissue of the sympathetic nervous system that is embedded in the muscle layer of the bladder wall. Approximately 10% of urinary bladder paragangliomas are malignant.Case presentation: A 76-year-old female presented with a history of haematuria, hypertension, headaches and excessive sweati...

ea0056p1072 | Thyroid (non-cancer) | ECE2018

Iodine deficiency in pregnancy – is the situation in poland improving?

Trofimiuk-Muldner Malgorzata , Sokolowski Grzegorz , Konopka Joanna , Dubiel Agnieszka , Kiec-Klimczak Malgorzata , Kluczynski Lukasz , Motyka Marcin , Rzepka Ewelina , Stefanska Agnieszka , Walczyk Joanna , Wilusz Malgorzata , Lewinski Andrzej , Zygmunt Arkadiusz , Pach Dorota , Hubalewska-Dydejczyk Alicja

Iodine deficiency is considered the most common preventable cause of brain damage worldwide. It is particularly important during pregnancy, as it influences not only mothers but their fetuses as well. The Polish model of iodine prophylaxis is based on obligatory household salt iodization and recommendation of iodine-containing supplements for pregnant women. The aim of the study was to assess the current iodine status of pregnant women and to compare it with earlier results.</...