hrp0097fc11.2 | GH and IGFs | ESPE2023

Clinical characteristics of heterozygous ACAN gene variants and longer-term response to growth hormone treatment: real-world data

Renes Judith , Reedijk Ardine , Losekoot Monique , Kant Sarina , van der Steen Manouk , van der Kaay Danielle , Hokken-Koelega Anita , van Duyvenvoorde Hermine , de Bruin Christiaan

Background: Heterozygous pathogenic variants in the ACAN gene underlie disproportionate short stature with characteristically accelerated bone age (BA) maturation and/or osteochondritis dissecans (OD)/early-onset osteoarthritis (OA).Objective: To describe the phenotypic spectrum and assess the response and safety of growth hormone (GH) treatment in children with a heterozygous pathogenic ACAN variant.</...

hrp0097t2 | Section | ESPE2023

Effects of tiratricol treatment withdrawal in MCT8 deficiency: ReTRIACt Trial

Freund Matthijs , Chatterjee Krishna , van Geest Ferdy , van der Most Floor , Bowers Dominic , Persson Anders , J Bauer Andrew , Edward Visser W.

We introduce the ReTRIACt Trial (NCT05579327) of tiratricol (Triac) for MCT8-deficiency, a rare X-linked disease resulting from disordered thyroid hormone transport and characterized by profound neurodevelopmental delay and features of chronic peripheral thyrotoxicosis. The ReTRIACt Trial aims to verify the effects of tiratricol observed in previous studies. It is a double-blind, randomized, multicenter, placebo-controlled study to evaluate the effects of tiratricol discontinu...

hrp0097p1-467 | Fat, Metabolism and Obesity | ESPE2023

Evaluation of concentrations of homocysteine in obese and overweight adolescents and its correlation with lipid and carbohydrate parameters

Rumińska Małgorzata , Witkowska-Sędek Ewelina , Krajewska Maria , Majcher Anna , Stelmaszczyk-Emmel Anna , Pyrżak Beata

Background: Metabolic and hemodynamic obesity-related disorders are a major risk factor for cardiovascular disease in children with excess body fat mass. Studies in adults suggest that serum homocysteine is a marker of atherosclerosis and is associated with vascular dysfunction. Studies in children are inconclusive. The aim of the study was to evaluate the association between homocysteine concentrations and lipid and carbohydrate metabolism parameters in obese...

hrp0098p1-195 | Sex Endocrinology and Gonads 2 | ESPE2024

Clitoromegaly - Size does matter

Barash Galia , Ariella Brown Segal Malka , Neogolani Larisa , Bistritzer Zvi , Rachmiel Mariana

Background: A finding of an enlarged clitoris in a female newborn, raises the suspicion of abnormal sexual differentiation and the possibility of female virilization, most commonly due to CAH. This often leads to an extensive medical evaluation which can be painful, expensive, and stressful for the patient and her family. Medical literature does not provide accurate values of a normal clitoris size. According to the few studies available, the current norm rang...

hrp0098p2-83 | Diabetes and Insulin | ESPE2024

Phenotypic Spectrum at Diagnosis of Age-Related Endotypes of Type 1 Diabetes Mellitus: A Cross-Sectional Study in China

Zhou Qiaoli , Zheng Xueqing , Ma Chenguang , Zhao Xue , Gu Wei

Background: Emerging evidence suggests the presence of distinct endotypes of type 1 diabetes mellitus (T1DM): T1DE1 in individuals diagnosed at age <7 years in contrast to T1DE2 in those diagnosed at ≥13 years of age. We aimed to comprehensively explore the phenotypic heterogeneity of T1DM with respect to the age-related endotypes.Methods: This cross-sectional study was conducted in China involving 1,204 children n...

hrp0098p2-177 | Growth and Syndromes | ESPE2024

Gastrointestinal symptoms in adolescents and adults with Silver-Russell syndrome

Muz Nataliia , Törnblom Hans , Saalman Robert , Dahlgren Jovanna

Objective: Silver-Russell Syndrome (SRS) is a rare disorder characterized by growth restriction and distinctive phenotypic features. The underlying mechanisms include loss of methylation on chromosome 11p15 and maternal uniparental disomy of chromosome 7. While feeding difficulties and gastrointestinal (GI) symptoms are prevalent during childhood, their manifestation and severity in adulthood remain unclear. This study aim ed to evaluate the presence and sever...

hrp0098p2-248 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2024

Associations of lifestyle factors with sex hormones among 6-19 years old children and adolescents

Huang Jia-Shuan

Background: Sex hormones are crucial for the growth and development of children and adolescents. Several studies have indicated the association between lifestyle factors and sex hormones in adulthood. However, few studies have assessed the association of lifestyle factors and sex hormones among children and adolescents. This study aim ed to assess the association between lifestyle factors and sex hormones in children and adolescents.<str...

hrp0095fc3.2 | Early Life and Multisystem Endocrinology | ESPE2022

Results from a Global, Multi-Center, Phase 2b Study (RIZE) in Congenital Hyperinsulinism: Characterization of a High Unmet Treatment Need and Glycemic Response to RZ358

Demirbilek Huseyin , Melikyan Maria , Galcheva Sonya , Dastamani Antonia , Thornton Paul , De Leon Diva , Raskin Julie , Roberts Brian , Hood Davelyn , O'Boyle Erin , Christesen Henrik

Background: Congenital Hyperinsulinism (CHI) is the most frequent cause of severe, persistent hypoglycemia in children. Persistent hypoglycemia places patients at risk for adverse clinical outcomes, and current guidelines recommend maintaining plasma glucose >3.9mmol/l. CHI patients often have substantial, residual hypoglycemia and fail to meet treatment goals with currently available standard of care (SOC) therapies. In this study, we aimed to characterize...

hrp0095p2-96 | Fat, Metabolism and Obesity | ESPE2022

SGPT and FT4 correlations among Greek school age children with obesity or severe obesity

Leka-Emiri Sofia , Kosteria Ioanna , Vlachopapadopoulou Elpis , Dikaiakoy Eirini , Evangelopoulou Catherine , Kafetzi Maria , Petrou Vasilios , Michalacos Stefanos

Background/Aims: Pediatric obesity remains an ongoing serious international health concern. Whether liver dysfunction is related to thyroid dysfunction in this population is controversial. Compare SGPT, TSH, FT4 and insulin resistance indexes between children with obesity or severe obesity.Methods: 279 children (143 females) with ΒΜΙ (≥95percentile) (CDC BMI curves) were divided in two groups (Group 1, ob...

hrp0097p1-511 | Growth and Syndromes | ESPE2023

Pathway to assess severe primary IGF-1 deficiency diagnosis by using the IGF-1 generation test in a real-life setting: data from the Global Increlex® Registry

De Schepper Jean , Bossowski Artur , Argente Jesús , Sert Caroline , Perrot Valérie , Pennestri Daniele , Bang Peter

Background: severe primary insulin-like growth factor-1 deficiency (SPIGFD) is a rare growth disorder, for which insulin-like growth factor-1 (IGF-1) generation test (IGFGT) is debated as a complementary diagnostic analysis. Diagnostic workup for SPIGFD varies geographically and diagnosis is delayed by the rarity of the condition (<1/10,000). Evaluation of real-world practices of IGFGT could help facilitate diagnosis and test use. Objective: to describe rea...