hrp0082p3-d3-942 | Puberty and Neuroendocrinology (1) | ESPE2014

A Severe LHRH-Independent Precocious Puberty in a 26-Month-Old Girl with a Clinical Diagnosis of McCune–Albright Syndrome

Flader Maciej , Latos-Bielenska Anna , Kapczuk Karina , Mankowski Przemyslaw , Malecka Elzbieta , Niedziela Marek

Background: Gonadal hyperfunction is the most frequent endocrine dysfunction in females with McCune–Albright syndrome (MAS), and precocious puberty (PP) is usually the first manifestation of MAS in children.Objective and hypotheses: The optimal pharmacologic treatment of PP in girls with MAS has not been yet identified and new therapeutic options like anti-estrogen should be taken under consideration especially in patients with extreme high estradio...

hrp0082p3-d1-953 | Sex Development | ESPE2014

The Development of Gonadoblastoma in a 3-Year-Old Girl with 46,Xdel(Y)p11.3, Gonadal Dysgenesis and Associated Congenital Anomalies

Kolesinska Zofia , Rojek Aleksandra , Kedzia Helena , Blaszczynski Michal , Latos-Bielenska Anna , Kapczuk Karina , Niedziela Marek

Background: One of the crucial aspects of the management of disorders of sex development is the assessment of the risk of malignant transformation of a dysgenetic gonad.Objective and hypotheses: The PCR analysis of germ-cell risk factors as the presence of the TSPY gene may be helpful in decision making of an early gonadectomy.Results: We report a 46,Xdel(Y)p11.3 girl with gonadal dysgenesis, that was referred to the Depar...

hrp0089p2-p361 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P2 | ESPE2018

Towards an Integrated Approach to Diagnosis of 46,XY Disorder of Sex Development

Kolesinska Zofia , Acierno James Jr , Faisal Ahmed S. , Kapczuk Karina , Skorczyk-Werner Anna , Mikos Hanna , Rojek Aleksandra , Krawczynski Maciej , Pitteloud Nelly , Niedziela Marek

Background and objective: Given phenotype variability as well as limited utility of conventional endocrine investigations in reaching the diagnosis in a 46,XY patient suspected of a disorder of sex development (DSD), there is an increasingly stronger argument for considering targeted genetic sequencing at an earlier stage of the evaluation process. This study focused on identifying the relationship between clinical examination, endocrine and radiological assessment, as well as...

hrp0092p2-134 | Fat, Metabolism and Obesity | ESPE2019

Tumor Necrosis Factor Alpha in Metabolic Syndrome Development in Children

Ben-Skowronek Iwona , Kapczuk Iga , Mroczek Wacinska Joanna

Background: Tumor necrosis factor alpha (cachexin) is a cell signaling cytokine involved in systemic inflammation process. It is produced chiefly by activated macrophages, although it can be produced by many other cell types such as CD4+ lymphocytes, NK cells, neutrophils, mast cells, eosinophils, and neurons. The primary role of TNF alpha is the regulation of immune cells. TNF, being an endogenous pyrogen, is able to induce fever, apoptotic cell death, an...

hrp0086p2-p530 | Fat Metabolism and Obesity P2 | ESPE2016

Vascular Endothelial Growth Factor as The Predictor Microangiopathy in Obese and Diabetic Children

Ben-Skowronek Iwona , Kapczuk Iga , Stapor Natalia , Banecka Bozena

Background: Vascular endothelial growth factor (VEGF) is a signal protein produced by cells that stimulates vasculogenesis and angiogenesis. It is part of the system that restores the oxygen supply to tissues when blood circulation is inadequate. Serum concentration of VEGF is high in bronchial asthma and diabetes mellitus. Overexpression of VEGF can cause vascular disease in the retina of the eye and other parts of the body.Objective and hypotheses: The...

hrp0092p2-286 | Thyroid | ESPE2019

Management of Childhood Thyroid Nodules in Children a Large Group of Cases From a Single Center

Sieniawska Joanna , Makuch Magdalena , Mlodawska Anna , Maslowska Kamila , Krawczyk Sylwia , Kapczuk Iga , Ben-Skowronek Iwona

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...

hrp0086p2-p537 | Fat Metabolism and Obesity P2 | ESPE2016

Insulin Resistance for Adolescents with Obesity in Latvia

Gailite Jurgita , Lubina Olga , Salijuma Eliza , Napituhina Ilze , Agadzanjana Karina , Stundzane Irena , Kirillova Inara , Lauga-Tunina Una , Vetra Anita , Dzivite-Krisane Iveta

Background: Insulin resistance for adolescents with obesity takes up a central role in the development of metabolic comorbidities, especially of type 2 diabetes.Objective and hypotheses: The aim of this study was to compare anthropometric data, apolipoprotein B, glucose, insulin level and HOMA-IR coefficien between genders.Method: Data about anthropometric parameters, blood samples, 6-min walk test (6MWT), eating habits and physica...

hrp0086wg4.1 | ESPE Bone and Growth Plate Working Group (BGP) | ESPE2016

The Genetics of Overgrowth Syndromes

Tatton-Brown Katrina

Human growth results from an increase in cell size, cell division and amount of interstitium and is determined by the complex interplay of genetic and environmental factors. Over the last 14 years our group has been studying growth through the genetic interrogation of rare individuals presenting with syndromic overgrowth defined as an increased height and/or head circumference, compared to the age-related peer group, in combination with an intellectual disability. In the years...

hrp0089s1.2 | Recent developments in the understanding of Hypothalamo-pituitary disorders | ESPE2018

Stem Cells in the Pituitary: A Role for Regeneration?

Rizzoti Karine

During morphogenesis, embryonic progenitors proliferate, differentiate and establish the shape of the future organs and tissues. In the mature organism, a certain degree of plasticity and potential for regeneration is retained as most organs maintain a population of adult stem cells sharing important similarities with embryonic progenitors; they are characterized by the ability to both self-renew and differentiate into the full range of the specialized cell types corresponding...

hrp0086s3.1 | Optimizing nocturnal diabetes control | ESPE2016

Sleep and Glycaemic Control in Children with Type 1 Diabetes

Spiegel Karine

Rapidly accumulating epidemiologic and experimental evidence has indicated that insufficient sleep, such as commonly experienced in modern societies by all age groups, reduces insulin sensitivity and impairs glucose metabolism in healthy adults, and increases the risk of incident type 2 diabetes. Studies in type 1 or type 2 diabetic adults show a link between reduced sleep quality or duration and poor glyceamic control. While poor diabetes control may impair sleep due to noctu...