hrp0094p2-313 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Co-occurrence of Turner (46,X-ring/45,X0 mosaicism) and Mayer-Rokitansky-Kuster-Hauser Syndromes: a case report

Ocello Laura , Ramponi Giulia , Maitz Silvia , Marco Santo Di , Adavastro Marta , Biondi Andrea , Cattoni Alessandro ,

Introduction: The co-occurrence of Turner Syndrome (TS) and Mayer-Rokitansky-Kuster-Hauser Syndrome (MRKHS) has been rarely described in literature. The resulting clinical picture includes congenital aplasia of the uterus and of the upper two-thirds of the vagina and ovarian dysgenesis.Case Report: We hereby report the case of a 14-year-old girl referred to our endocrine outpatient clinic for pubertal delay. Her previous medical history ...

hrp0097p2-284 | Late Breaking | ESPE2023

A new approach to estimate bone mineral density in pediatric subjects: Radiofrequency ecographic multi spettrometry (REMS). A comparison with DEXA.

Zoller Thomas , Pietrobelli Angelo , Ferruzzi Alessandro , Gatti Davide , Arrigoni Marta , Munari Stefania , Cavarzere Paolo , Antoniazzi Franco

Introduction: Limitations of the available imaging technique led the introduction of a new quantitative approach ultrasound-based for assessment of bone tissue in pediatric subjects. This new methodology use data from unfiltered radio frequency signals, collected during ultrasonographic acquisition of bone district of interest to estimate the bone mineral density. Advantages of this new technique include absence of radiation exposure, low cost of management an...

hrp0098p2-46 | Bone, Growth Plate and Mineral Metabolism | ESPE2024

Advanced bone age in short stature due to ACAN gene mutation: a case report.

Righi Beatrice , Pollazzon Marzia , Valeri Lara , Amato Maria , De Fanti Alessandro , Garavelli Livia , Sartori Chiara

Introduction: Aggrecanopathies are rare disorders associated with idiopathic short stature. They are caused by pathogenic variants in the ACAN gene.Case: Female, was referred to our clinic for short stature. Born at 34+3 weeks from a Thai mother and Caucasian father, birth weight was 2190g (0.14 SDS), length 45cm (0.21 SDS) and head circumference 31cm (-0.13 SDS). Pregnancy was obtained by in vitro fertilization...

hrp0094p2-172 | Fat, metabolism and obesity | ESPE2021

Metabolic syndrome and birth anthropometric data in Prader-Willi syndrome.

Salvatoni Alessandro , Agosti Massimo , Azzolini Sara , Bonaita Valentina , Crino Antonino , Delvecchio Maurizio , Augusta Greggio Nella , Iughetti Lorenzo , Madeo Simona F , Nosetti Luana , Osimani Sara , Paino Roberta , Rutigliano Irene , Sacco Michele , Salvatore Silvia , Sartorio Alessandro , Grugni Graziano ,

Introduction: Previous studies showed that non-obese children and adults with Prader-Willi syndrome (PWS) have a low frequency of metabolic syndrome (MetS), while obese ones have a frequency similar to that of non-PWS obese. It is known that individuals born small for gestational age (SGA) have a greater predisposition to the development of MetS. Recent neonatal percentiles of subjects with PWS (Salvatoni et al, Am J Med Genet Part A, 2019) documented...

hrp0095p1-319 | Growth and Syndromes | ESPE2022

Analysis of trabecular bone score in girls with Turner syndrome

Wikiera Beata , Syrycka Joanna , Nocon-Bohusz Julita , Halupczok-Żyła Jowita , Jawiarczyk Aleksandra , Bolanowski Marek , Noczynska Anna

Introduction: Short stature is the most common symptom of Turner Syndrome (TS). The height below the 3rd percentile is an indication for recombinant human growth hormone (rhGH) treatment. TS is also associated with gonadal failure and increased risk of fracture. Spinal trabecular bone score (TBS) is a novel bone imaging tool that can offer better bone evaluation in TS.Aim: To evaluate TBS in TS, its association with rhGH...

hrp0095p1-344 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Puberty patterns in boys with X-linked congenital adrenal hypoplasia.

Kolesinska Zofia , Rojek Aleksandra , Malecka Elzbieta , Slomko-Jozwiak Malgorzata , Obara-Moszynska Monika , Banaszak-Ziemska Magdalena , Niedziela Marek

Background: X-linked congenital adrenal hypoplasia (adrenal hypoplasia congenita, AHC) is a rare life-threating disorder due to pathogenic variants in the NR0B1 gene. It encodes DAX-1, an orphan nuclear hormone receptor, that acts as a transcription factor and is expressed in the adrenals and hypothalamus-pituitary-gonadal (HPG) axis. Therefore, apart from primary adrenal insufficiency, patients present incomplete or absent puberty and infertility due...

hrp0095p2-289 | Thyroid | ESPE2022

Retrospective assessment of malignant thyroid nodules in a group of polish children and adolescents involving elastography

Borysewicz-Sańczyk Hanna , Sawicka Beata , Karny Agata , Bossowski Filip , Marcinkiewicz Katarzyna , Rusak Aleksandra , Dzięcioł Janusz , Bossowski Artur

Introduction: Thyroid nodules occur in 1.8% children which is not so often in comparison to adults (19–68%), but in children they appear to be at higher risk of malignancy (22–26% vs.5–10% respectively). It has been shown that the probability of thyroid nodules malignancy correlates with the presence of characteristic ultrasonographic features. Elastography - the noninvasive ultrasound imaging technique based on estimation of the tissue flexi...

hrp0092p1-361 | GH and IGFs (2) | ESPE2019

Long-Term Safety of a Once-Weekly Somatrogon (hGH-CTP): 4-Year Results of a Phase 2 Extension Study in Children with Growth Hormone Deficiency

Zielinska Nataliya , Skorodok Yulia , Malievsky Oleg , Iotova Violeta , Rosenfeld Ron G. , Zadik Zvi , Vander Shelly , Pastrak Aleksandra

Background: Once-daily growth hormone (GH) therapy is an effective treatment for children with growth hormone deficiency (GHD), but compliance wanes with ongoing treatment. A once -weekly GH, somatrogon (hGH-CTP), is being developed to reduce the treatment burden of daily dosing for children and caregivers and potentially improve compliance and long-term efficacy. The impact of once-weekly somatrogon on long-term safety, local tolerability and immunogenicity w...

hrp0092p3-280 | Late Breaking Abstracts | ESPE2019

Short, but Daily and Controlled Physical Activity of Children with Obesity has a Positive Effect on The Irisin and Chemerin Levels

Wójcik Małgorzata , Kozioł-Kozakowska Agnieszka , Januś Dominika , Furtak Aleksandra , Starzyk Jerzy

Therapeutic interventions in obesity in addition to the weight loss, seek to improve the profile of cytokines. It is believed that physical activity, even in the absence of significant weight loss, may favorably increase the concentration of irisin and decrease the concentration of chemerin. The aim of the study was to compare the impact of a standard lifestyle intervention (SI) with an intense intervention (II) including controlled increase of daily physical ...

hrp0086p1-p472 | Fat Metabolism and Obesity P1 | ESPE2016

Risk factors for Atherosclerosis after Anticancer Treatment in Childhood: The Assessment of Lipid Parameters and Indicators of Susceptibility to Atherosclerosis in a Group of Pediatric Patients after Anticancer Treatment

Połubok Joanna , Jasielska Olimpia , Gonera Aleksandra , Kozicka Marta , Sęga-Pondel Dorota , Kazanowska Bernarda , Barg Barg

Introduction: Lipid disorders are a common complication of anticancer therapy. These disorders may be included in both the metabolic syndrome or also may be associated with increased risk of cardiovascular disease. The aim of our study is to evaluate lipid profile in children after anticancer treatment.Materials and methods: Study group consisted of 44 patients (aged 3.25–16 years) with solid tumors, at least one year after cessation of anticancer t...