Searchable abstracts of presentations at key conferences in endocrinology

ea0016p594 | Paediatric endocrinology | ECE2008

The coincidence of Poland syndrome and Turner syndrome

Wikiera Beata , Wojcik Elzbieta , Noczynska Anna

Poland syndrome (PS) is a defect consisting in unilateral deficiency of the pectoralis major muscle and anomaly of the ipsilateral upper limb, usually in the form of syndactyly or synbrachydactyly. The absence of a nipple and the aplasia of a mammary gland are frequently found. The incidence of PS ranges from 1:7000 to 1:100 000.The authors present a 5-year-old girl with a very rare coincidence of PS and Turner syndrome. The child was born after 38 weeks...

ea0029p497 | Developmental endocrinology | ICEECE2012

The development of endocrinologic dysfunction after allogeneic HSCT in children.

Ben-Skowronek I. , Drabko K. , Wojcik B. , Kowalczyk J.

Introduction: Endocrinologic dysfunction is a well-known complication after hematopoietic stem cell transplantation (HSCT) in children. The mechanisms of thyroid damage developing after transplantation remain not completely recognized. Toxicity of the conditioning regimen, especially total body irradiation, is most commonly postulated cause of endocrine abnormalities; immunological mechanisms (e.g. graft vs host disease) may also contribute to thyroid dysfunction.<p class=...

ea0011p363 | Diabetes, metabolism and cardiovascular | ECE2006

Carbohydrate metabolism in children with Down syndrome

Wojcik E , Barg E , Gromkowska M , Wikiera B , Maslowska E

Introduction: Trisomy 21 is often associated with congenital malformation and metabolic abnormalities such as glucose intolerance and an increased risk of developing diabetes mellitus.Aim: The aim of this study was to assess carbohydrate metabolism in children with Down syndrome.Material and methods: Thirty nine children with Down syndrome, aged between 2 months and 16 years (mean 6.5 years), took part in the study. Glycaemia befor...

ea0063p1147 | Reproductive Endocrinology 2 | ECE2019

Acne in girls and young women with hyperandrogenism

Sowinska-Przepiera Elzbieta , Patalong-Wojcik Martyna , Andrysiak-Mamos Elzbieta , Kiedrowicz Bartosz , Syrenicz Anhelli

Introduction: Acne vulgaris is the most common skin disorder, which may be sometimes the only early clinical manifestation of hyperandrogenemia. Main role in its pathogenesis play: genetical predisposition as well as hormonal and environmental disturbances, which may begin in puberty. It has been widely discussed at what age and what kind of diagnostics should be performed in this area.Aim of the study: Was to evaluate concentrations of selected hormones...

ea0016p359 | Growth and development | ECE2008

Lipid peroxidation as possible mechanism of apoptosis activation in low birth weight children

Barg Ewa , Gasiorowski Kazimierz , Wikiera Beata , Skoczynska Anna , Turczyn Barbara , Wojcik Elzbieta , Grabowski Marcin

Children born with low birth weight (LBW, below 2500 g) exhibit slower development with deficit of height susceptibility to recurrent infections, especially of respiratory tract and, in adulthood, an increased risk of developing syndrome X. One possible explanation could be an enhanced elimination of cells by apoptosis.The aim of this study was evaluate of mechanism of lipid peroxidation and activity of caspase 3 in children with low birth weight.<p ...

ea0090ep1089 | Late Breaking | ECE2023

Influence of muscle mass and strength on bone mineralization with consideration of sclerostin concentration

Patalong-Wojcik Martyna , Sowińska-Przepiera Elżbieta , Malczyk-Matysiak Kinga , Myszka Aleksandra , Janiec Agnieszka , Syrenicz Anhelli

Introduction: Osteoporosis is a disease characterized by a decreased bone strength, as a result of increased bone porosity and impaired mineralization. According to the mechanostat theory, loads generated by the muscle mass and muscle strength, stimulate bone reconstruction.Aim of the study: In our study, we investigated whether muscle strength and mass exert a significant effect on bone mineral density in young adult women. We also tested whether sclero...

ea0016p596 | Paediatric endocrinology | ECE2008

The superoxide dismutase and lipid peroxide in children with Down syndrome and congenital heart disease

Wojcik Elzbieta , Barg Ewa , Gromkowska Malgorzata , Maslowska Ewa , Wikiera Beata , Kalita Danuta , Gamian Elzbieta , Turczyn Barbara , Skoczynska Anna

Metabolic disturbances occur more often in patients with Down Syndrome (DS, trisomy 21) than in the health population.Superoxide dismutase (SOD-1), the main enzyme in the antioxidative system, is coded on chromosome 21. Disturbances in the antioxidative system may play a major role in the development of complications of CHD with arterio-venous shunt.The aim was to evaluate the activity of SOD-1 and concentration of LPO in children ...

ea0063gp240 | Anterior and Posterior Pituitary | ECE2019

Adrenal axis deterioration in the families/sporadic patients with PROP1 mutation, over 30 years of single center longitudinal observation

Gilis-Januszewska Aleksandra , Rogoziński Damian , Kluczyński Łukasz , Zygmunt-Gorska Agata , Wojcik Małgorzata , Starzyk Jerzy , Hubalewska-Dydejczyk Alicja

Introduction: The time, degree and mode of pituitary function deterioration in patients with PROP1 mutation is not fully known and understood.Aim: To investigate the time and mode of pituitary function deterioration in the families/sporadic patients with PROP1 mutation during longitudinal observation.Methods: We performed a retrospective longitudinal (33 years, SD=12) analysis of 22 patients (11M/11W) with PROP1 mutation, including...

ea0063p1098 | Pituitary and Neuroendocrinology 3 | ECE2019

The long time observation, treatment modalities and outcomes in patients with childhood/adult onset of craniopharyngioma

Gilis-Januszewska Aleksandra , Kluczyński Łukasz , Rogoziński Damian , Pantofliński Jacek , Zygmunt-Gorska Agata , Wojcik Małgorzata , Starzyk Jerzy , Hubalewska-Dydejczyk Alicja

Background: Craniopharyngiomas are rare, relatively benign, slowly growing intracranial tumors originating in pituitary gland embryonic tissue. They may present at any age, with two peaks of occurrence in children and in older adults. Clinical symptoms are the result of mass effects. Treatment options include surgery, radio- and chemotherapy and unfortunately are connected with a high ratio of postoperative pituitary insufficiency.Aim: To present the lon...

ea0070aep567 | Pituitary and Neuroendocrinology | ECE2020

Multigene liquid biopsy (NETest) is diagnostic of pancreatic and small bowel neuroendocrine tumours and correlates with imaging

Malczewska Anna , Witkowska Magdalena , Makulik Karolina , Bocian Agnes , Walter Agata , Wojcik-Giertuga Monika , Pilch-Kowalczyk Joanna , Zajecki Wojciech , Bodei Lisa , Oberg Kjell , Kos-Kudla Beata

Introduction: There is a substantial unmet clinical need for an accurate and effective blood biomarker for gastroenteropancreatic neuroendocrine tumours (GEP-NETs). Current monoanalyte biomarkers are ineffective. The NETest, a novel multianalyte signature, provides molecular information relevant to disease biology. We therefore evaluated, under real-world conditions, the clinical utility of the NETest as a liquid biopsy in GEP-NETs.Aim(s): Independently ...