hrp0097p1-431 | Diabetes and Insulin | ESPE2023

Telemedicine usefulness in the follow-up of young people with diabetes 1 diabetes 2-years after the spread of COVID-19

Predieri Barbara , Candia Francesco , Stefanelli Francesca , Vandelli Sara , Lucaccioni Laura , Bruzzi Patrizia , Iughetti Lorenzo

Introduction: Telemedicine was adopted during the lockdown due to the COVID-19 pandemic in the follow-up of patients with type 1 diabetes (T1D). Because of its potential to reinforce self-management support outside health care settings it was used still after the lockdown.Objectives: Longitudinal and observational study aimed to investigate effectiveness of telemedicine in the follow-up of young people with T1D over the ...

hrp0097p1-58 | Fat, Metabolism and Obesity | ESPE2023

Neck circumference and metabolic score before and after long-term impact of a lifestyle intervention in patients with abdominal obesity

Azcona-Sanjulian Cristina , Ana Catalan , Ana Ojeda-Rodriguez , Chueca María , Sara Berrade , Marti Amelia

Aim: to assess and follow-up neck circumference and its relationship with a metabolic score in patients with abdominal obesity after a lifestyle intervention.Patients, Material and Methods: 122 children and adolescents with abdominal obesity, aged 7 to 16 years, were included in a control randomized intervention study (NCT031472). Abdominal obesity was diagnosed using the waist circumference. The intervention included an...

hrp0097p1-106 | GH and IGFs | ESPE2023

Growth Hormone (GH) Therapy in Children with short stature: A cross-sectional study of indication and treatment outcomes- 12-year single center experience

Al Jneibi Sara , Hammouri Marwa , Taha Fatima , Allami Zahraa , Weber Stefan , AlJubeh Jamal , Al Remeithi Sareea

Background: GH deficiency remains the main indication for GH therapy in children. GH therapy has subsequently been approved in the USA and Europe for other conditions resulting in short stature, including Turner Syndrome, being born small for gestational age with failure to attain normal growth, Prader-Willi Syndrome, chronic renal insufficiency, short stature homeobox-containing gene deficiency, and in the USA exclusively Noonan Syndrome and idiopathic short ...

hrp0097p1-372 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Incidence of differences of sex development in Switzerland 2000-2019

Metzger Sara , Sommer Grit , Flück Christa , DSD Cohort Study Group Swiss

Background: Differences in sex development (DSD) comprise a large group of rare, mostly genetic disorders along the path of human sexual development. Since the Chicago Consensus, health care providers group them in sex chromosome DSD, 46,XY and 46,XX DSD with subgroups regarding their effect on sex hormone synthesis, action or excess, on gonadal development, and others. Incidence of rare DSD is not well established despite public interest.<p class="abstext...

hrp0097p1-566 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Inhibin A (INHA) and steroidogenic factor 1 (SF-1/NR5A1) collaborate in regulating human sex development.

Naamneh Elzenaty Rawda , Sara Sauter Kay , Kouri Chrysanthi , Martinez de Lapiscina Idoia , E. Flück Christa

Background: Inhibin consists of two homologous subunits, the α (INHA) and the βA or βB subunits (INHBA/INHBB). Both inhibins play an important role in the hypothalamic-pituitary-gonadal axis by regulating the follicle stimulating hormone levels. INHA knockout mice develop mixed or incompletely differentiated gonadal stromal tumours. In females, some INHA variants have been associated with primary ova...

hrp0097p1-385 | Thyroid | ESPE2023

Patients with genetic susceptibility syndromes to thyroid cancer in a tertiary hospital

Andrés Carlos , J. Chueca María , Elcano Leire , Ros Raquel , Berrade Sara , Alonso Angel

The new techniques of molecular genetics are revolutionizing our clinical practice. This causes benefits in the diagnosis and prediction of diseases in patients, but also raises new ethical concerns that must be addressed. One of them is the susceptibility to cancer due to genetic risk. Children can be especially vulnerable in this area, as they do not freely decide the way forward. Regarding thyroid cancer, it is important to know which genetic syndromes are susceptible to ca...

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...

hrp0098rfc2.3 | Bone, Growth Plate and Mineral Metabolism | ESPE2024

Optimizing the Growth Outcome follow up in Hypophosphatemic Rickets Treated with Burosumab: The Critical Role of Auxological Measurements

Zoletto Silvia , Mozzato Chiara , Motola Sara , Burati Giulia , Sanetti Virginia , Laura Guazzarotti

Background: Hypophosphatemic rickets (HR) associated with elevated FGF23 plasma levels is a disorder characterized by renal phosphate wasting, leading to impaired bone mineralization. Conventional therapy, based on oral phosphate and calcitriol, has limited efficacy and tolerability. In 2018, burosumab, a monoclonal antibody against fibroblast growth factor 23 (FGF-23), was approved for the treatment of X-linked hypophosphatemia (XLH). However, data on burosum...

hrp0098p1-118 | Bone, Growth Plate and Mineral Metabolism 2 | ESPE2024

Patient-Centred Data Collection Provides Comprehensive Insights into Healthcare Resource Use in Achondroplasia: Data From the Pilot Phase of the VIrtual STudy in Achondroplasia (VISTA)

Pimenta Jeanne , Abner Sophia , Chen Joy , Chu Dorna , Dosenovic Sara , Horvathova Veronika , Fettes Fiona

Background: Achondroplasia (ACH) is a rare genetic condition caused by a gain-of-function variant in the fibroblast growth factor receptor 3 (FGFR3) gene. It results in severe disproportionate short stature and medical complications requiring multidisciplinary care. Vosoritide, a C-type natriuretic peptide analogue, is currently the only approved targeted treatment for children with ACH from birth to epiphyseal closure. Understanding real-world ACH management ...