hrp0097p2-219 | Adrenals and HPA Axis | ESPE2023

Osteoporosis as the first sign of Cushing disease - a case report

Łupińska Anna , Stawerska Renata , Aszkiełowicz Sara , Kowalik Dorota , Lewiński Andrzej

We present the case of a 16.5-year-old short, thin boy with Cushing disease. The first symptom of the disease was spinal pain and vertebral fractures attributed to osteoporosis. The patient was admitted to the clinic due to severe back pain. On dual X-ray absorptiometry (DXA), the Z-score TBLH was: -1.9, Z-score Spine: -4.2. The X-ray and magnetic resonance imaging (MRI) revealed multilevel fractures of the thoracolumbar vertebrae. The causes of this condition initially remain...

hrp0097p2-118 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Evaluation of the frequency of decreased bone mineral density and the impact of selected auxological and hormonal factors on bone mass among children with endocrine disorders

Stawerska Renata , Łupińska Anna , Aszkiełowicz Sara , Lewiński Andrzej

Introduction: Bone mineral density (BMD) is affected not only by genetic and enviromental causes, but various hormonal factors. It seems reasonable to seek for dependencies between BMD and paediatric endocrinopathies. The aim of the study was to assess the frequency of decreased BMD in children with several endocrinological disorders and evaluate the influence of selected auxological and hormonal parameters on their BMD.Materials...

hrp0097p1-184 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Retrospective Analysis of Individuals with Differences in Sex Development (DSD) in a Brazilian Single-Center Study Across the Lifespan

Batista Rafael , Gomes Nathalia , Bachega Tania , Madureira Guiomar , Miranda Mirela , Dallago Renata , Teresa Ferrari Maria , Lousada Lia , Craveiro Flora , Batatinha Julio , Scalco Renata , Jorge Alexander , Costa Elaine , Helena Sircili Maria , Denes Francisco , Inacio Marlene , Nishi Mirian , Domenice Sorahia , Mendonca Berenice

Context: Differences in sex development (DSD) represent a broad spectrum of conditions that can present at different ages to various healthcare professionals with different backgrounds.Design: This is a retrospective, observational cohort that includes all DSD subjects referred to a multi-professional DSD team over a period of 41 years (from 1980 to 2021).Participants: A total of 6...

hrp0086p1-p821 | Syndromes: Mechanisms and Management P1 | ESPE2016

Case Report of 48,xxyy Syndrome Associated to Father’s Radioactive Contamination During the Cesium Accident in Goiânia – Goiás, Brazil

Pinto Renata Machado , Cunha Damiana Mirian , Ribeiroi Cristiano Luiz , da Silva Claudio Carlos , da Cruz Aparecido Divino

Background: In total of 48,XXYY Syndrome occurs in 1:20.000–1:50.000 male births. It used to be considered as a variant of Klinefelter syndrome, but now it is considered as a distinct clinical and genetic entity with increased risks for congenital malformations, additional medical problems and more complex psychological and neurodevelopmental involvement. 48,XXYY Syndrome results from the fertilization of a normal female oocyte (Xm), with an aneuploid sperm (XpYpYp) produ...

hrp0082p1-d2-157 | Growth (1) | ESPE2014

Autoantibodies Against Some Selected Appetite-Regulating Peptide Hormones and Neuropeptides are Present in Serum of Short Children with Candida Albicans Colonisation and Helicobacter Pylori Infection

Stawerska Renata , Czkwianianc Elzbieta , Matusiak Agnieszka , Smyczynska Joanna , Prymus-Kasinska Sylwia , Hilczer Maciej , Chmiela Magdalena , Lewinski Andrzej

Background: Peptide hormones synthesized in gastrointestinal tract (GI) and adipose tissues, in addition to neuropeptides, regulate growth and body weight in children. The GI microflora (i.e. Candida albicans – CA and Helicobacter pylori – HP) is an antigenic source. Based on the molecular mimicry hypothesis, intestinal microbe-derived antigens may trigger the production of autoantibodies cross-reacting with regulatory peptides.<p class="abstext...

hrp0084p2-260 | Diabetes | ESPE2015

Adherence to Diabetes Care in Children and Adolescents with Type 1 Diabetes Mellitus in Spain: Results from the Chrystal Study

Siguero Juan Pedro Lopez , Vazquez Luis Alberto , Villoro Renata , Jiang Dingfeng , Merino Maria , Reviriego Jesus , Perez-Nieves Magaly

Background: CHRYSTAL (Costs and Health Related qualitY of life Study for Type 1 diAbetes mellitus pediatric patients in Spain) is an observational study conducted in 2014 on a representative sample of 275 patients aged 1-17 years with Type 1 Diabetes Mellitus (T1DM) in Spain.Objective and hypotheses: One of the objectives of the study was to describe the adherence to diabetes care using the Self Care Inventory (SCI), and to compare results by HbA1c level...

hrp0084p3-700 | Diabetes | ESPE2015

Health-Related Quality of Life in Children and Adolescents with Type 1 Diabetes Mellitus in Spain: Results From the CHRYSTAL Study

Vazquez Luis Alberto , Siguero Juan Pedro Lopez , Villoro Renata , Jiang Dingfeng , Merino Maria , Reviriego Jesus , Perez-Nieves Magaly

Background: Costs and health related quality of life study for type 1 diabetes mellitus (CHRYSTAL) pediatric patients in Spain is an observational study conducted in 2014 on a representative sample of 275 patients aged 1–17 years with type 1 diabetes mellitus (T1DM) in Spain. The study collects diabetes specific health related quality of life (HRQoL) using the Diabetes Module of the Pediatric Quality of Life Inventory (PedsQL). This scale has been identified to be one of ...

hrp0094p2-184 | Fat, metabolism and obesity | ESPE2021

Assessment of DRD2 dopamine receptor gene rs6277 in pediatric obesity: a case-control study

Machado Pinto Renata , Alves Nygell S , Fortes Jakeline S , Monteiro Rubia V , Minasi Lysa B , da Cruz Aparecido Divino ,

Introduction: Obesity is a multifactorial disease resulting from an interplay between genetics and the environment. Metabolic, nutritional, psychosocial, and lifestyle factors participate, promoting various degrees of overweight or obesity. Pediatric obesity increases after infancy and is higher in early adulthood, showing a heritability of up to 85%. Genetic variants associated with BMI in children can exert their effects by affecting eating behavior, as is t...

hrp0097p1-342 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

The relationship between the amount of ghrelin-positive cells in the stomach and the concentration of ghrelin and anti-ghrelin antibodies in the blood in short stature children, with additional analysis of the impact of H. pylori infection.

Kolasa-Kicińska Marzena , Stawerska Renata , Czkwianianc Elżbieta , Stawerski Wojciech , Stawerski Paweł , Foks Maciej , Lewiński Andrzej

Introduction: The growth process in children depends on GH/IGF-1. Ghrelin is stimulator of GH synthesis. Ghrelin also stimulates the orexigenic center peptides responsible for appetite. It is synthesized in the stomach, thus its secretion may be alter by gastrointestinal tract deseases. Recently, high titers of antibodies against some neuropeptides (including anti-ghrelin) have been found in indyviduals with certain microflora components, e.g. Helicobacter pyl...

hrp0097p1-173 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Magnetic Resonance Imaging (MRI) Findings and Predictive Factors of Gonadal Neoplasia in Complete Androgen Insensitivity Syndrome

Loch Batista Rafael , Coelho Fernando , Craveiro Flora , Dallago Renata , Domenice Sorahia , Viana Publio , Dantas Patricia , Carvalho Filomena , Mendonca Berenice

Introduction: Complete Androgen Insensitivity Syndrome (CAIS) is characterized by a complete external genitalia appearance and testicular development in 46,XY individuals harboring pathogenic allelic variants in the AR gene. Due to growing evidence regarding the low risk of germ cell tumors (GCT) in AIS. Prophylactic gonadectomy has been debatable in the CAIS management, mainly due to the absence of an accurate biomarker for GCT....