ESPE Abstracts

Background: Polycystic ovary morphology (PCOM) in USG should not be identified with polycystic ovary syndrome (PCOS) and it is not a criterion for diagnosis of this syndrome in adolescents.Objective and hypotheses: Assessment of the usability of 3D ultrasonography in diagnostics of androgen excess disorders.Method: 40 girls aged 14–18 with hyperandrogenism were subjected to endocrinological examinations and transrectal USG of ...

Background: Thyrotoxic crisis is a rare, emergent complication of paediatric hyperthyroidism. A rare neurological manifestation of thyrotoxicosis is thyroid myopathy.Objective and hypotheses: We report the case of a female teenager who presented to the Emergency Department with thyrotoxic crisis and lower extremity weakness. Our objective is to discuss the course of thyrotoxic crisis and review potential rare neurological manifestations of thyrotoxicosis...

Background: At present few data have clearly showed an increased frequency of idiopathic central precocious puberty (CPP) in females during the COVID-19 pandemic. The role of environmental factors is not fully understood and various hypotheses have been formulated.Aims of the study: To evaluate retrospectively the incidence of newly diagnosed CPP and other pubertal disorders (Premature thelarche, early puberty, fast pube...

Background: Adenosine deaminase (ADA) deficiency is a systemic metabolic disease that primarily affects the immune system and lymphocyte development, causing a severe combined immunodeficiency (ADA-SCID). However, the accumulation of toxic metabolites occurs in other organs and systems. Since most ADA-SCID patients undergo definitive treatment with Gene Therapy (GT) or allogeneic haematopoietic stem cell transplantation (HSCT), preceded by conditioning (either...

Introduction: The diagnostic gold standard for Central Precocious puberty (CPP) is the gonadotropin-releasing hormone (GnRH) stimulation test. MR imaging of the brain (MRI) and the hypothalamus-pituitary region is required to exclude organic causes.Objective: The aim of the study was to explore a radiomic model that could assist physicians in the diagnostic workup of CPP.Methods: 4...

Background: Congenital heart defects are found in 50% of girls with Turner syndrome (TS). The evaluation of cardiovascular system is an important element in the diagnostic work-up of TS and is of particular significance of cardiologic monitoring, safety aspects of rGH treatment and any pregnancy planning.Objective and hypotheses: Assess the cardiovascular system in TS girls with magnetic resonance imaging of the heart and aorta (CMR and angioMR).<p c...

The cause of pseudo-hypoparathyroidism (PHP) is structural mutations or epigenetic modifications of the GNAS gene, which encodes the alpha subunit of the G protein.The aim: of the study is to compare the genotype of patients with GNAS mutation with their phenotype.Materials and Methods: 28 patients (16 F and 12 M) diagnosed with PHP were analyzed. Among them, 13 came from six unrelated Polish famil...

Introduction: Pituitary gigantism is caused by a somatotroph pituitary tumor that occurs before epiphyseal closure and is associated with increased morbidity due to the systemic effects of chronic hormonal excess. It is an extremely rare disease, with an estimated incidence of 8 per million person-years. Therapeutic modalities for pituitary gigantism are the same as those for acromegaly and include surgery, medication and radiation. Medical treatment plays an ...

Introduction: Growth arrest-specific 6 (Gas6) is a vitamin K-dependent protein produced by several types of cells including adypocytes and regulates their homeostasis. Previous studies indicate that Gas6 signaling may be involved in the pathogenesis of obesity and its complications, including systemic inflammation and insulin resistance. However, little is known about the clinical significance of the Gas6 system in childhood obesity. The aim of the study was t...

Background: Thyroid nodules are quite common in the adult population (13%)but are relatively rarely diagnosed in childhood (0.2-5%).There is a significantly higher risk of malignancy of paediatric thyroid nodules than that in adult patients. The authors of this publication present the observations of the occurrence, diagnosis, and treatment of patients with thyroid nodules in the Department of Pediatric Endocrinology and Diabetology, Medical University...