hrp0097p1-279 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2023

A Year-Long, National Trial of Prospective CGM Use in Families with Hyperinsulinism

Worth Chris , Worthington Sarah , Auckburally Sameera , Ahmad Sumera , O'Shea Elaine , Ferrera-Cook Chris , F Betz Stephen , Salomon-Estebanez Maria , Banerjee Indraneel

Introduction: Congenital hyperinsulinism (CHI) is the commonest cause of severe hypoglycaemia in early childhood but glycaemic characterisation remains scarce. Continuous glucose monitoring (CGM) offers a deep understanding of glycaemic control to understand disease burden, individualise patient care and inform therapeutic trials in CHI. Preliminary studies suggest inadequate accuracy and no efficacy of standalone CGM to reduce hypoglycaemia. Provision is hist...

hrp0084p3-694 | Diabetes | ESPE2015

Elastargene 3C Helps to Improve HbA1c in Children and Adolescents with Type 1 Diabetes Using Insulin Pump Therapy

Scaramuzza Andrea , Ferrari Matteo , Macedoni Maddalena , De Angelis Laura , Redaelli Francesca , De Palma Alessandra , Zuccotti Gian Vincenzo

Background: Elastargene 3C (E3C) is a cream specifically designed to improve lipoatrophy in patients with diabetes. It is made by many ingredients, among whom are elastin, arnica, collagen, caffeine, and L-carnitine.Objective and hypotheses: We started a 6-month, double-blind, randomized trial to test the efficacy of E3C in children with type 1 diabetes (T1D) using insulin pump (CSII), in whom infusion set usually left little withe scars.<...

hrp0097p1-53 | Fat, Metabolism and Obesity | ESPE2023

First results from the ongoing Med4Youth European study: comparing Mediterranean diet with a Low-Fat Diet for adolescents with obesity

Petraroli Maddalena , Shulhai Anna-Mariia , Messina Giulia , Rosi Alice , Bertolotti Elena , Maria Roberta Esposito Susanna , Scazzina Francesca , Elisabeth Street Maria

Obesity is increasing, and the related complications are well known. Clinical Trials related with specific diets are currently lacking in paediatrics. There is an increasing interest in Mediterranean diet (MD). The Med4Youth European study* has enrolled 240, 13- to 16-year-old subjects with a BMI above the 90th percentile(WHO curves) in a multicenter randomized controlled trial (Italy, Spain and Portugal) to evaluate the effects of MD. We present the data relative to the 80 su...

hrp0097p1-7 | Adrenals and HPA Axis | ESPE2023

The process of knowledge-making with a patient encounter – from education to negotiation of the way of treatment in patients with congenital adrenal hyperplasia (CAH).

M. Kucharska Anna , Radkowska-Walkowicz Magdalena

Introduction: CAH is a chronic inherited disease which needs the treatment for the whole life. This situation forms the necessity of a proper patient- doctor relations: not only compliance, but rather informed cooperation. The neonatal screening for CAH allowing the early diagnosis and treatment and availability of internet sources of professional knowledge is the new challenge in the way of education of patients. In Poland there is still observed the dominanc...

hrp0098p3-42 | Bone, Growth Plate and Mineral Metabolism | ESPE2024

Access to physiotherapy for children with Osteogenesis Imperfecta in Austria

Jablonska Magdalena , Mindler Gabriel , Raim ann Adalbert

Background: Physical therapy plays a critical role in the multidisciplinary care of patients with rare bone disorders, such as osteogenesis imperfecta (OI). In Austria, similar to other European regions, the majority of OI patients depend on the availability of extramural (outpatient) therapists for their physical therapy needs. However, access to these therapists can be hindered by several factors, including long waiting times and the lack of coverage under p...

hrp0095p1-581 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

A case series of granulosa cell tumors of the ovary

Giuca Diandra , Dumitru Niculina , Scurtu Cristian , Vladoiu Suzana , Dumitrica Alina , Boboc Madalina , Procopiuc Camelia , Gherlan Iuliana

Introduction: Granulosa cell tumors (GSTs) of ovary are very rare, usually large gonadic neoplasms arising from the mesenchyme and sex cords. The main clinical appearance of the juvenile GCTs is represented of signs of excessive estrogen (Precocious puberty - 75% of cases) or testosterone secretion (rare).Aim: To present the different clinical presentation and outcome in a case series of a rare tumor patients.<p clas...

hrp0089p2-p241 | Growth &amp; Syndromes P2 | ESPE2018

Turner Syndrome and Autoimmune Thyroid Disease: Pecularities of Evolution in 93 Turner Syndrome Patients

Dumitrescu Cristina , Gherlan Iuliana , Radomir Lidia , Vintila Madalina , Brehar Andreea , Caragheorgheopol Andra , Purice Mariana , Procopiuc Camelia

Turner Syndrome (TS) is a relatively common chromosomopathy and according to epidemiological studies the prevalence of Autoimmune thyroiditis (AIT) in TS fluctuates from 10% to 21% versus 1.3% in the general population.Objective: – to retrospectively evaluate thyroid autoimmune disorders and thyroid function in a group of 93 TS patients.– to compare the prevalence of AIT and thyroid dysfunction in subgroups of TS accordin...

hrp0089p2-p359 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P2 | ESPE2018

Clinical, Hormonal and Metabolic Profile in Adolescent Girls Treated with Gonadotropin Releasing Hormone Agonist for Idiopathic Central Precocious Puberty

Procopiuc Camelia , Dumitrescu Cristina , Vintila Madalina , Caragheorgheopol Andra , Brehar Andreea , Radomir Lidia , Gherlan Iuliana

Background: Gonadotropin-releasing hormone analog (GnRHa) is the gold standard treatment for central precocious puberty (CPP). In recent years, increased prevalence of polycystic ovary syndrome (PCOS) has been reported in girls treated with GnRHa for CPP. Attributes of PCOS overlap normal pubertal changes, making the diagnosis of PCOS during adolescence controversial.Aim: To assess the metabolic profile, the prevalence of PCOS and describe its phenotypes...

hrp0086p2-p182 | Bone &amp; Mineral Metabolism P2 | ESPE2016

Primary Hyperparathyroidism- A Cause of Metabolic Syndrome in Children?

Ioana Arhire Amalia , Pavel Madalina , Florea Suzana , Miron Adrian , Gabriela Barbu Carmen

Introduction: We report a case of a 15 year old male with metabolic syndrome due to primary hyperparathyroidism.Case report: A 15 year old male was admitted in our department for the evaluation and management of obesity. His medical history revealed a progressive weight gain in the last 3 years in an emotional familial context. Clinical features: Obesity: Z-score of +2.32 DS, a height of 1.80 m and a weight of 108 kg, with a BMI of 33.3...

hrp0097p2-16 | Growth and Syndromes | ESPE2023

Clinical heterogeneity of Kabuki Syndrome in a cohort of pediatric Romanian patients

Manole Tiberiu , Radomir Lidia , Boboc Madalina , Procopiuc Camelia , Braha Elena , Gherlan Iuliana

Introduction: Kabuki Syndrome (KS) is a rare genetic disorder characterised by dysmorphic facies, poor developmental growth, hypotonia, skeletal abnormalities, intellectual disability, as well as systemic malformations. The pathogenic or likely pathogenic variants of the KMT2D or KDM6A genes are responsible for about 70% of the cases, while the rest are diagnosed based on clinical features consistent with KS. This paper reviews the clinical features, genetic t...