Searchable abstracts of presentations at key conferences in endocrinology

ea0056p1035 | Thyroid (non-cancer) | ECE2018

The assessment of vitamin D3 deficiency in patients with Hashimoto’s disease and the relationship between the disease duration and 25OHD3 levels

Lizis-Kolus Katarzyna , Hubalewska-Dydejczyk Alicja , Sowa-Staszczak Anna , Skalniak Anna , Kowalska Aldona , Lizis Pawel

The observed increase in the incidence of Hashimoto’s thyroiditis (HT) requires the research on environmental factors that may initiate or model its course. There have been reports of the impact of vitamin D3 deficiency on HT development.Objective: To assess the degree of deficiency of 25OHD3 and the relationship between the disease duration and 25OHD3 levels in patients with HT.Material and methods: 310 people were enrolled i...

ea0056ep14 | Adrenal and Neuroendocrine Tumours | ECE2018

Patient harboring RET D631Y mutation with long history of pheochromocytoma without evident medullary thyroid carcinoma

Khatsimova Liana , Tsoy Uliana , Yanevskaya Lubov , Kostareva Anna , Dalmatova Anna , Karonova Tatyana , Grineva Elena

Purpose: D631Y is a rare mutation associated with MEN2a in which there is an aspartic acid to tyrosine amino acid substitution at codon 631 in exon 11. Common clinical features of this variant of RET mutation are pheochromocytoma in 50%, medullary carcinoma in 30%, primary hyperparathyroidism is very rare. We present the patient harboring RET D631Y mutation.Clinical case: In April 2017 40-year-old woman was admitted to endocrine department of the Almazov...

ea0073oc11.4 | Oral Communications 11: Adrenal and Cardiovascular Endocrinoloyg | ECE2021

The management of post-operative recurrences in patients with adrenocortical carcinoma (ACC): The experience of San Luigi Hospital

Calabrese Anna , Puglisi Soraya , Basile Vittoria , Perotti Paola , Berchialla Paola , Pia Anna , Reimondo Giuseppe , Terzolo Massimo

BackgroundThe management of post-operative recurrences of ACC remains controversial, although the current guidelines recommend a surgical approach whenever feasible with radical intent.AimThe aim of our study was to evaluate retrospectively the management of recurrences in patients with ACC. We collected data of 106 patients with ACC followed at the San Luigi Hospital for the management of recurrence. Median ...

ea0073aep128 | Calcium and Bone | ECE2021

COVID-19 and impaired calcium metabolism upon admission to the hospital

Maganeva Irina , Eremkina Anna , Bibik Ekaterina , Gorbacheva Anna , Kovaleva Elena , Aynetdinova Alina , Mokrysheva Natalia

IntroductionThere is evidence of the interaction between the main parameters of calcium-phosphorus metabolism, vitamin D and the course of a new coronavirus infection. Moreover, hypocalcemia is one of the most frequent biochemical disorders and is associated with severity of the disease, increased likelihood of hospitalization, need for mechanical ventilation, and poor prognosis in COVID-19.ObjectiveTo estima...

ea0099ep260 | Endocrine-Related Cancer | ECE2024

Carcinoid heart disease - a single centre experience

Kurzyńska Anna , Stefańska Agnieszka , Kolasa Magdalena , Sowa Staszczak Anna , Hubalewska-Dydejczyk Alicja

Carcinoid heart disease (CHD) affects about 20-50% of patients with carcinoid syndrome (CS) and is the main cause of mortality in this group of patients. The 3-year survival rate in patients with CHD is 31% compared to 68% in those without cardiac involvement. The cause of the development of CHD is the flow of serotonin-rich blood, and the lesions affect the right heart (localizing mainly in the endocardium and inner membrane of large vessels). The study aim was to present a s...

ea010257 | Adrenals and Neuroendocrine Tumors | EYES2024

Familial mysteries unraveled: MEN1 and the intricacies of gonosomal mosaicism

Fyda Rafał , Trofimiuk-Muldner Małgorzata , Buziak-Bereza Monika , Grochowska Anna , Nogieć Anna

Introduction: Multiple endocrine neoplasia–type 1 (MEN1) is an autosomal dominant cancer syndrome characterized by tumors in at least two of the following: parathyroid, endocrine pancreas, and anterior pituitary. MEN1 mutations may exhibit gonosomal mosaicism— a combination of somatic and germ-line tissue mosaicism. We present a family with gonosomal mosaicism in MEN1.Case Presentation: A 43-year-old man presented with sudden neck enlargement, ...

ea0081p676 | Pituitary and Neuroendocrinology | ECE2022

Pheochromocytoma/paraganglioma metastatic potential prediction

Rzepka Ewelina , Kurzyńska Anna , Grochowska Anna , Ulatowska-Białas Magdalena , Skalniak Anna , Lech Martyna , Opalinska Marta , Bogusławska Anna , Przybylik-Mazurek Elwira , Sowa-Staszczak Anna , Gilis-Januszewska Aleksandra , Hubalewska-Dydejczyk Alicja

Pheochromocytoma and paraganglioma (PPGL) are rare neuroendocrine tumours, which derive from the chromaffin cells of the adrenal medulla or extra-adrenal sympathetic and parasympathetic ganglia. About 15-20% of those neoplasms could present malignant course. Prediction of PPGL metastatic potential still remains a great clinical challenge, since the sensitivity and specificity of proposed prediction systems are not satisfactory. We performed a retrospective database search for ...

ea0035p986 | Thyroid (non-cancer) | ECE2014

Polymorphisms within genes encoding co-stimulatory molecules modulate the susceptibility to Graves' disease and orbitopathy

Daroszewski Jacek , Pawlak-Adamska Edyta , Przemyslaw Janusz , Frydecka Irena , Karabon Lidia , Jonkisz Anna , Tomkiewicz Anna , Partyka Anna , Lebioda Arleta , Bolanowski Marek

The clinical presentation of Graves’ disease (GD) depends on the combination of environmental and genetic factors. The CTLA-4 and CD28, ICOS genes encoding negative and positive regulator of the T-lymphocyte immune response, are candidate genes for conferring susceptibility to thyroid autoimmunity.Polymorphisms in genes: CTLA-4: g.319C>T (rs5742909), c.49A>G (rs231775), g.*642AT(8_33), CT60 (g.*6230G>A, rs3087243), Jo31...

ea0073aep399 | Endocrine-Related Cancer | ECE2021

Heterogeneity of the clinical presentation of the MEN1 LRG_509t1 c.781C > T (p.Leu261Phe) variant within a three-generation family

Gilis-Januszewska Aleksandra , Anna Boguslawska , Godlewska Magdalena , Hasse-Lazar Kornelia , Jurecka-Lubieniecka Beata , Jarzab Barbara , Sowa-Staszczak Anna , Skalniak Anna , Hubalewska-Dydejczyk Alicja

BackgroundMultiple neuroendocrine neoplasia type 1 is a rare, heterogeneous genetic disorder with an autosomal dominant inheritance, predisposing to benign and malignant tumors. The phenotype of MEN1 syndrome varies between patients in terms of tumor localisation, age of onset and clinical aggressiveness, even between affected members of the same family. We report a heterogenic phenotype of the MEN1 variant c.[781C > T] (LRG_509t1) previously reporte...

ea0077op5.4 | Bone and Calcium | SFEBES2021

Normocalcaemic hyperparathyroidism: Impact of assay and reference range differences on the diagnosis

Fenn Jonathan , Kalaria Tejas , Sanders Anna , Ford Clare , Gama Rousseau

Approximately 70% of clinical laboratories in the United Kingdom use assays from Abbott Laboratories and Roche Diagnostics. We carried out a cross-sectional study between two neighbouring hospital laboratories in our regional pathology network, comparing the potential impact of Abbott and Roche PTH and calcium assays in the diagnosis of normocalcaemic hyperparathyroidism. Over 4 months, forty-one vitamin D replete (>50 nmol/l) normocalcaemic hyperparathyroidism patients (3...