Searchable abstracts of presentations at key conferences in endocrinology

ea0070ep407 | Reproductive and Developmental Endocrinology | ECE2020

The long way to unravel the reasons for differences in phenotypes among MEN1 patients

Skalniak Anna , Jabrocka-Hybel Agata , Pach Dorota , Hubalewska-Dydejczyk Alicja

Introduction: Multiple endocrine neoplasia type 1 (MEN1) is a monogenic, dominantly inherited disorder caused by mutations in the MEN1 gene. Unfortunately, the outcome and the patients’ prognosis are unpredictable even among members of one family. It seems clear that other factors influence the individual outcome of the disease. However, it is still unclear what kind of factors (genetic or environmental) would be responsible for the observed differences.<p c...

ea0037ep998 | Thyroid (non-cancer) | ECE2015

Factors affecting the efficacy of radioiodine therapy in patients with Graves' disease

Pogwizd Magdalena , Baldys-Waligorska Agata , Pach Dorota , Buziak-Bereza Monika , Hubalewska-Dydejczyk Alicja

Introduction: In treating hyperthyroidism in Graves’ disease (GD) patients with 131-iodine, the optimum activity of radioiodide is yet to be established. We analysed factors affecting the efficacy of 131I radiotherapy in GD patients.Materials and methods: The analysed group consisted of 362 (80.9% females and 19.1% males) GD patients, of median age 53 (min: 14 and max: 85) years. GD was diagnosed from clinical features, laboratory tests, ...

ea0070aep757 | Pituitary and Neuroendocrinology | ECE2020

AIP gene germline mutations in non-selected patients with sporadic pituitary macrodenomas

Trofimiuk-Muldner Malgorzata , Domagała Bartosz , Sokolowski Grzegorz , Skalniak Anna , Pach Dorota , Hubalewska-Dydejczyk Alicja

Up to 5% of all pituitary tumors are hereditary (e.g. due to menin or AIP genes mutations). AIP gene mutations are more common in subjects with acromegaly, less than 30 years old at the onset of disease, and with FIPA family history. The study was aimed at the assessment of the frequency and characteristics of AIP-mutation related tumors in non-selected patients with pituitary macroadenomas.Material and Methods: The study included subsequent 131 patients...

ea0032p367 | Diabetes | ECE2013

Progression to impaired glucose metabolism in normal glucose tolerant urban population

Piorowska Natalia , Gilis-Januszewska Aleksandra , Piwonska-Solska Beata , Szafraniec Krystyna , Pach Dorota , Hubalewska-Dydejczyk Alicja

Objective: To determine the progression rate to impaired fasting glucose (IFG), impaired glucose tolerance (IGT), and diabetes (DM2) and risk factors of progression to diabetes in normal glucose tolerant (NGT) people during 8 years follow up study using WHO 1999 criteria and new criteria of IFG (IFG 5.6-fasting glucose 5.6–6.9 mmol/l).Research design and methods: This is an 8 year prospective observation in a randomly selected urban population aged ...

ea0032p566 | Endocrine tumours and neoplasia | ECE2013

An analysis of genotype--phenotype correlations and variable clinical expression in families with multiple endocrine neoplasia type 1

Jabrocka-Hybel Agata , Skalniak Anna , Piatkowski Jakub , Pach Dorota , Hubalewska-Dydejczyk Alicja

Multiple endocrine neoplasia type 1 is an inherited syndrome that is caused by a germline mutation in the MEN1 gene encoding a tumour-suppressor protein, menin. Currently, no clear genotype–phenotype correlation has been established between clinical forms and MEN1 gene mutations. The aim of the study was clinical characteristics in relation to MEN1 gene mutation in families with MEN1 syndrome treated in our department. To date, genetic testing including complete sequencin...

ea0020p204 | Endocrine tumours and neoplasia | ECE2009

The variability of clinical presentation of multiple endocrine neoplasia syndrome type 1 as the reason of the underestimated diagnosis

Elwira Elwira , Hubalewska-Dydejczyk Alicja , Pach Dorota , Kuniarzz Sylwia , Tracz Marta

Introduction: Multiple endocrine neoplasia (MEN) is a rare disease. Apart from the well recognised MEN2 syndrome the MEN1 is less common diagnosed. The MEN1 gene is localised on the 11q13 chromosome and encodes menin. There is no simple definition of MEN1 syndrome because of heterogenous combination over 20 different endocrine and non-endocrine tumours. According to the Gubbio consensus, MEN1 is diagnosed by the occurrence of two of the three main MEN1-related endocrine tumour...

ea0073aep649 | Thyroid | ECE2021

Hyperthyroidism and exophthalmos in a patient with Erdheim–Chester disease

Mitka Kamila , Grzegorz Sokolowski , Pach Dorota , Alicja Hubalewska - Dydejczyk

We present extremely rare case of a female patient with the coincidence of hyperthyroidism, exophthalmos and Erdheim–Chester disease (a rare form of non-Langerhans cell histiocytosis, positive BRAF mutation). The patient was hospitalized due to exacerbations of the primary disease and symptoms of thyroid dysfunction. For about two months, the patient has reported increased feeling of heat, sweating, palpitations, weight loss of about 10 kg for 3 months, significant intens...

ea0049ep1026 | Pituitary - Clinical | ECE2017

Pituitary insufficiency following traumatic thoracic injury in adolescent male patient-case study

Gilis-Januszewska Aleksandra , Wilusz Malgorzata , Turek-Jabrocka Renata , Pantoflinski Jacek , Trofimiuk-Muldner Malgorzata , Kluczynski Lukasz , Hubalewska-Dydejczyk Alicja , Pach Dorota

Traumatic thoracic injuries in children and adolescents are rare, but could be connected with others traumas, often with traumatic brain injury (TBI). Based on data in the current literature, approximately 15–20% of TBI patients develop chronic hypopituitarism. Growth hormone (GH) and ACTH deficiency are the most common, followed by gonadotropins and thyroid-stimulating hormone. The greatest challenge associated with endocrine complications in individuals with polytrauma ...

ea0041ep300 | Clinical case reports - Pituitary/Adrenal | ECE2016

Temozolomide treatment in pituitary tumor causing Cushing’s Disease resistant to conventional therapy – case report

Gilis-Januszewska Aleksandra , Pantoflinski Jacek , Turek-Jabrocka Renata , Sokolowski Grzegorz , Wilusz Malgorzata , Pach Dorota , Hubalewska-Dydejczyk Alicja

Objective: The management of pituitary tumors causing Cushing’s Disease are a multidisciplinary challenge to clinicians with neurosurgery as a first line treatment followed by the radiotherapy and pharmacotherapy including chemiotherapy.Such tumors are difficult to treat with high rate of recurrence. To date only 25 patients with Cushing Disease treated with the new alkylating agent temozolamide (TMZ) have been reported.Materials and methods: Sixty-...

ea0035p553 | Endocrine tumours and neoplasia | ECE2014

Gastro-entero-pancreatic neuroendocrine tumors (GEPNETs) – 10 year experience of one center

Lewkowicz Ewelina , Trofimiuk-Muldner Malgorzata , Pach Dorota , Kieltyka Agnieszka , Staszczak Agnieszka , Sowa-Staszczak Anna , Gilis-Januszewska Aleksandra , Hubalewska-Dydejczyk Alicja

GEPNETs are rare tumors of very variable biology, particularly proliferative potential. Improved knowledge of the clinical course of disease may lead to proper identification of patients requiring more aggressive approach.Aim: i) characteristics of GEP-NET patients of the Endocrinology Department, University Hospital in Krakow, Poland; ii) identification of factors influencing their 5-year survival.Material and methods: Study inclu...