hrp0098p1-284 | Sex Endocrinology and Gonads 3 | ESPE2024

Face processing patterns in individuals with gender incongruence or differences of sex development: an eye-tracking study.

Kolesinska Zofia , Kupinski Szymon , Zakrzewska Marzena , Biadala Magdalena , Kapczuk Karina , Niedziela Marek , Chodecka Aleksandra

Background: Face processing is considered the most highly developed visual perception ability, with research indicating differences between genders. Gender incongruence (GI) refers to person’s experience of an incompatibility between gender identity and birth-assigned sex. Differences of sex development (DSD) encompass rare congenital conditions, in which chromosomal, gonadal or phenotypic development is atypical. The study aimed to investigate face proc...

hrp0092p1-293 | Thyroid (1) | ESPE2019

Genetic Susceptibility to Hashimito's Thyroiditis in Children: Analysis of Polymorphisms rs7093069 – IL2RA, rs5742909 – CTLA 4, rs7138803 – FAIM2

Goralczyk Aleksandra

Background: Hashimito's Thyroiditis is influenced by genetic and environmental factors. Interleukin-2 receptor alpha chain (IL2RA) gene polymorphism and Cytotoxic T-lymphocyte antigen 4 (CTLA 4) gene polymorphism are known to be associated with HT, but have not been established in a Caucasian children population yet. The Fas Apoptotic Inhibitory Molecule 2 (FAIM2) gene polymorphisms impact on the development of HT in children has not been reported yet....

hrp0084p3-957 | GH & IGF | ESPE2015

Somatotropic Pituitary Insufficiency in Kearns-Sayre Syndrome – The Clinical Picture, Genetic Diagnosis and Efficacy of rhGH Therapy

Rojek Aleksandra , Niedziela Marek

Background: Kearns-Sayre syndrome (KSS, OMIM #530000) is a rare disease belonging to a heterogeneous group of mitochondrial cytopathies. KSS is caused by deletions and/or duplications in the mitochondrial DNA, which lead to the dysfunction of the respiratory chain and to disorders in tissues with a high energy demands (muscle, nervous system).Case presentation: The girl was admitted to the hospital at the age of 13 years with the suspision of KSS. Progre...

hrp0092p3-46 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Growth Hormone Treatment of a Patient with X-Linked Hypophosphatemic Rickets Caused by PHEX Mutation: Effects on Linear Growth

Rojek Aleksandra , Obara-Moszynska Monika , Niedziela Marek

Background: Hypophosphatemic rickets (HR) stands for a heterogenous group of rare disorders in which excessive renal phosphate wasting is observed. The main characteristics of X-linked HR (XLHR) (OMIM #307800) caused by mutation in PHEX (phosphate-regulating endopeptidase) gene (OMIM *300550) include bone deformities, disproportionately short stature, dental anomalies and hypophosphatemia with coexisting low renal phosphate reabsorption. The patie...

hrp0089p3-p031 | Bone, Growth Plate & Mineral Metabolism P3 | ESPE2018

Growth Hormone Treatment of 2 Patients with X-linked Hypophosphatemic Rickets Caused by PHEX Mutation: Effects on Linear Growth

Rojek Aleksandra , Obara-Moszynska Monika , Niedziela Marek

Background: Hypophosphatemic rickets (HR) is a group of rare disorders caused by an excessive renal phosphate wasting. X-linked HR (XLHR) is caused by mutation in PHEX (phosphate-regulating endopeptidase) gene and is characterized mainly by bone deformities, disproportionately short stature, dental anomalies and hypophosphatemia with coexisting low renal phosphate reabsorption. Early treatment with vitamin D and phosphate improves the patient’s growth. Recombinan...

hrp0089p1-p082 | Diabetes & Insulin P1 | ESPE2018

The Comparison of the Occurrence of Beta Cells Autoantibody and Regulatory T Cells (CD4+CD25+FoxP3+) in Patients with Type 1 Diabetes Mellitus, their Siblings and Healthy Children

Sieniawska Joanna , Krzewska Aleksandra , Ben-Skowronek Iwona

Background: Regulatory T cells (Treg) of phenotype CD4+CD25+FoxP3+ involves active suppression of excessive immune response. The population of Treg cells from patients with type 1 diabetes (DM1) have numeric and functional abnormalities. Although there are many reports of investigations on human and animal populations, the role of regulatory T cells in the development of type 1 diabetes is still unclear.Objective and hypotheses: The aim of the study is t...

hrp0089p1-p084 | Diabetes & Insulin P1 | ESPE2018

The Comparison of the Occurrence of Beta Cells Autoantibody and Natural Killer Cells in Patients with Type 1 Diabetes Mellitus, Their Siblings and Healthy Children

Sieniawska Joanna , Krzewska Aleksandra , Ben-Skowronek Iwona

Background: Natural killer cells are a type of cytotoxic lymphocyte critical to the innate immune system. NK cells from patients with type 1 diabetes (DM1) have numeric and functional abnormalities. However, little is known about the number of NK cells in healthy siblings of children with DM1.Objective and hypotheses: The aim of the study is to compare the population of NK cells and the correlation between NK cells and beta cells autoantibody in healthy ...

hrp0086p2-p166 | Bone & Mineral Metabolism P2 | ESPE2016

Diversity in Phenotype of Two Siblings and their with X-Linked Hypophosphatemic Rickets due to PHEX Mutation

Rojek Aleksandra , Kolesinska Zofia , Niedziela Marek

Background: Hypophosphatemic rickets (HR) is a group of rare disorders caused by an excessive renal phosphate wasting. The dominant form of X-linked HR (XLHR) is caused by mutation in PHEX (phosphate-regulating endopeptidase) gene. XLHR phenotype is characterized mainly by rickets, bone deformities, short stature, dental anomalies, hypophosphatemia, low renal phosphate reabsorption, normal serum calcium level, hypocalciuria, normal/low serum level of vitamin D (1,25(O...

hrp0086p2-p262 | Diabetes P2 | ESPE2016

Comparison of the Occurrence of Islet Autoantibodies in Siblings of Patients with Type 1 Diabetes Mellitus to Healthy Children

Krzewska Aleksandra , Sieniawska Joanna , Ben-Skowronek Iwona

Objective and hypotheses: The aim of the study is comparison of the occurrence of islet autoantibodies in healthy siblings of children with T1DM to healthy children from non-diabetic families.Method: Determination of anti-decarboxylase of the glutamic acid antibodies (anti GAD-Ab), anti-protein tyrosine phosphatase (anti IA2), and antibodies against zinc transporter eight (anti ZnT8) in 75 children with T1DM, their siblings – 105, and 77 healthy chi...

hrp0084p3-1205 | Thyroid | ESPE2015

Subclinical Hypothyroidism in Children and Adolescents – A 5-year Single-center Follow-up Study

Gawlik Aneta , Such Kamila , Dejner Aleksandra , Zachurzok Agnieszka , Antosz Aleksandra , Malecka-Tendera Ewa

Background: Most experts agree that subclinical hypothyroidism (SH) represents early, mild thyroid failure, however there are controversies about the evolution of SH over time.Objective and hypotheses: The aim of the study was to analyse the dynamics of thyroid dysfunction in children initially referred as patients with SH.Method: During the period January 2010 – January 2015, 258 unselected consecutive SH patients (140 girls)...