hrp0086p2-p153 | Bone & Mineral Metabolism P2 | ESPE2016

Evaluation of ALP Value in Early Prediction of the Effects of Growth Hormone Treatment in Children with Growth Hormone Deficiency (GHD)

Witkowska-Sedek Ewelina , Kucharska Anna , Majcher Anna , Pyrzak Beata

Background: Serum bone turnover markers may serve as parameters for predicting the growth response to growth hormone (rhGH) treatment.Objective and hypotheses: Assessment of the alkaline phosphatase (ALP) value in early prediction of the effects of rhGH treatment in children with growth hormone deficiency.Method: The study group consisted of 50 children with GHD. ALP, bone-ALP, vitamin D and I...

hrp0086p2-p949 | Thyroid P2 | ESPE2016

Thyroid Function in Obese Children and Its Correlations with Chosen Atherogenic Risk Factors

Ruminska Malgorzata , Witkowska-Sedek Ewelina , Majcher Anna , Pyrzak Beata

Background: Moderately elevated thyroid-stimulating hormone (TSH) with normal serum concentrations of free thyroxine (fT4), suggesting subclinical hypothyroidism, is the most common hormonal abnormality in obese children. Controversy remains whether thyroid dysfunction related to obesity has an influence on the cardiovascular risk factors.Objective and hypotheses: The aim of the study was to assess correlation between TSH and fT4 and chosen atherogenic r...

hrp0082p1-d2-75 | Diabetes (1) | ESPE2014

Lpl Gene Mutation and Polymorphism of Apoc2 and Apoc5 Genes in a Patient with Diabetes Mellitus Type 1

Nocon-Bohusz Julita , Wikiera Beata , Basiak Aleksander , Noczynska Anna

Background: The rise of TG in patients with ketoacidosis is connected with the impairment of lipoprotein lipase activity – the enzyme strictly dependent on insulin.Objective and hypotheses: The authors present a case report of 2.5 years old boy in whom diabetes manifestation was connected with severe metabolic disorders: ketoacidosis and extreme hyperlipidaemia.Method: The child without any significant medical history, admitte...

hrp0084p3-916 | GH & IGF | ESPE2015

Vitamin D Deficiency can Modulate GH/IGF1 Axis in GH Deficient Children

Witkowska-Sedek Ewelina , Kucharska Anna , Majcher Anna , Pyrzak Beata

Background: According to the latest studies vitamin D has an effect on the production and/or secretion of IGF1 in the liver, but the exact mechanism regulating these relationships has not been thoroughly explained.Objective and hypotheses: Evaluation of the relationship between 25(OH)D and IGF1 levels in the serum of children with GH deficiency (GHD).Method: The study group consisted of 76 GH deficient children qualified for GH the...

hrp0095p2-140 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2022

POU1F1 gene mutation as a cause of central hypothyroidism and growth hormone deficiency: a case report

Sawicka Beata , Borysewicz-Sańczyk Hanna , Sztatyłowicz Aleksandra , Michalak Justyna , Stożek Karolina , Bossowski Artur

Background: Thyroid hormones are necessary for normal child development. Hypothyroidism, associated with insufficient amounts of free triiodothyronine and thyroxine, may not only cause poor growth rate, but also results in impaired central nervous system development. In Poland, newborn screening for congenital primary hypothyroidism, the incidence of which is reported to be 1:2500- 1:4000 births, has been performed for many years. Secondary hypothyroidism, cau...

hrp0092rfc12.2 | Growth and Syndromes (to include Turner syndrome) | ESPE2019

Treatment with Growth Hormone Increases Klotho Concentration in Patients with Turner Syndrome

Wikiera Beata , Seifert Monika , Nocon-Bohusz Julita , Noczynska Anna , Daroszewski Jacek

Background: Short stature, increased adiposity and insulin resistance are conditions frequently observed in patients with Turner syndrome (TS). Many hormones are involved in the pathogenesis of the condition but therapeutic options we can offer to the patients are still scant. Each newly discovered peptide give us hope. Klotho play a very important role in the regulation of the human body metabolism and was not investigated in patients with TS so far.<p cl...

hrp0092t2 | Top 20 Poster | ESPE2019

Assessment of ZnT8 Antigen in Thyroid Cells in Children and Adolescents with Hashimoto Thyroiditis and Nodular Goitre

Borysewicz-Sańczyk Hanna , Dzięciol Janusz , Sawicka Beata , Bossowski Artur

Introduction: The presence of ZnT8 (zinc transporter 8) has been described on the surface of beta pancreatic cells in type 1 diabetic patients and the ZnT8 Ab (zinc transporter-8 autoantibody) has been recently established as a new marker of this autoimmune disease. There are studies demonstrating that ZnT8 may be of importance in some other endocrine cell types. In our study we wanted to verify the presence of ZnT8 in thyroid cells of children and adolescents...

hrp0092p1-73 | GH and IGFs | ESPE2019

Influence of Birth Parameters on Growth Response and Metabolic Effects of Growth Hormone (GH) Therapy in GH-deficient Children and Adolescents

Witkowska-Sedek Ewelina , Ruminska Malgorzata , Kucharska Anna M. , Majcher Anna , Pyrzak Beata

Introduction: Growth depends on growth hormone (GH) secretion and on individual sensitivity to its action. The effects of birth parameters on growth and metabolic status are well documented in small-for-gestational-age children, but in children with GH deficiency those associations are not clear. Taking into account that GH-deficient children are not a homogenic group of patients, the importance of an individual approach to GH doses and the assessment of the e...

hrp0092p2-278 | Thyroid | ESPE2019

A 10- Year-Old Girl with Thyroid Hormone Resistance (βTHR)- Case Report

Bossowski Artur , Michalak Justyna , Sawicka Beata , Sanczyk Hanna Borysewicz- , Kolanowska Monika , Kubiak Anna , Jazdzewski Krystian

Introduction: Thyroid hormone resistance (THR) is a rare syndrome which is characterized by reduced response to thyroid hormones at tissue level. The disorder is caused by genetic mutation in the thyroid hormone receptor. The most common are a heterozygous thyroid hormone β (THRβ) gene mutations. Laboratory tests usually show normal or elevated level of thyroid- stimulating hormone (TSH) and high concentration of thyroid hormones (T3 and T4).<p c...

hrp0092p3-167 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Bloom Syndrome in 7-Year-Old Girl Diagnosed with Short Stature

Borysewicz-Sańczyk Hanna , Sawicka Beata , Cottrell Emily , Ladha Tasneem , Storr Helen , Bossowski Artur

Introduction: Bloom syndrome (BS) is a rareautosomal recessive disorder caused by mutations in the BLM gene, located on the long arm of the chromosome 15 (15q26.1). The typical symptoms of the disease are short stature, low birth weight, dysmorphic features including long, narrow face (dolichocephaly), micrognathism and prominent nose and ears. Other characteristic features include a rash following sun exposure, hyper-pigmented areas or cafe-au-lait s...