hrp0097p2-52 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Patient with ABCD syndrome (Abnormal Calcium, Calcinosis, Creatinine in Down syndrome), a rare cause of pediatric hypercalcemia

Lucia Feller Ana , Aziz Mariana , Gil Silvia , Quarracino Malena , Mendoza Lincolns , Paz Marcos , Vaiani Elisa , Ciaccio Marta , Viterbo Gisela

Introduction: ABCD syndrome is characterized by hypercalcemia, hypercalciuria, nephrocalcinosis, and renal impairment, generally under 4 years old. This is a rare cause of pediatric hypercalcemia with only 7 cases published, but it is believed to be underdiagnosed. The suspected mechanism would be associated with overexpression of transient receptor potential channels (TRP) that modulate intestinal absorption of calcium, since TRP-M2 is encoded on chromosome 2...

hrp0098t4 | Top 20 Posters | ESPE2024

More than 15 years of activity of the Ghent pediatric gender service: trends in referrals and medical steps.

Ciancia Silvia , Klink Daniel , Craen Margarita , Heyse Robin , Dhont Karlien , Bruneel Laura , van Schuylenbergh Judith , Motmans Joz , Cools Martine

Background: Lately, pediatric gender services have been confronted with a steep and unexplained increase of transgender and gender diverse (TGD) youngsters seeking psychological support and eventually medical care. We report on the evolution of referrals to our clinic for first psychological assessment and the rates of medical transition.Methods: The whole cohort of youngsters undergoing a first psychological intake betw...

hrp0098p1-261 | Growth and Syndromes 3 | ESPE2024

Recombinant Growth Hormone Therapy in Pediatric Renal Failure: 30-Year-Experience in a Tertiary Hospital

Martínez Castillo Iratxe , Aziz Mariana , Adragna Marta , Monteverde Marta , López Laura , Ibañez Juan , Gil Silvia

Introduction: Growth failure represents a clinical challenge in children with chronic kidney disease (CKD). rhGH proved to be effective to enhance growth in patients (p) under conservative treatment (CT), dialysis (D), or after renal transplantation (RT).Aims: To report the results of rhGH treatment (GHT) in pediatric patients with CKD over the last 30 years in a single pediatric tertiary center. Study rhGH effectiveness...

hrp0098p3-110 | Fat, Metabolism and Obesity | ESPE2024

Correlation between bone remodeling biomarkers and glucose metabolism in pediatric patients with essential obesity

Sbilordo Serena , Salzano Giuseppina , Maria Cassone Carlo , Patafi Silvia , D'Amico Federica , Luppino Giovanni , Wasniewska Malgorzata , Catalano Antonino , Valenzise Mariella

Background: Recent studies suggest that osteocalcin (OC) promotes glucose and lipid metabolism via ACAM, integrin αVβ3, GLUT1 and GLUT8 expression, directly affecting adipocytes. OC represents a link between bone and glucose metabolism; it stimulates insulin and stimulates pancreatic β-cells proliferation through Gprc6a receptor. Low levels of OC were observed in adult patients with Type 2 DM suggesting an association with glucose into...

hrp0098p1-176 | Pituitary, Neuroendocrinology and Puberty 2 | ESPE2024

Pelvic ultrasound and pubertal attainment in girls with sexual precocity: the pivotal role of uterine volume in predicting the timing of menarche

Cattoni Alessandro , Russo Gianni , Capitoli Giulia , Rodari Giulia , Laura Nicolosi Maria , Molinari Silvia , Tondelli Daniele , Pelliccia Ciretta , Radaelli Silvia , Arosio Andrea , Fondata Katia , Tattesi Giulia , Passoni Paolo , Boneschi Annalisa , Giavoli Claudi , Laura Carla Meroni Silvia , Rita Stancampiano Marianna , Garuti Elda , Biondi Andrea , Balduzzi Adriana , Bizzarri Carla

Introduction: Among girls assessed for pubertal precocity, pelvic ultrasound (pUS) may represent a pivotal tool to predict the time expected to elapse between sonographic assessment and the onset of menarche (TUS-M). Accordingly, the present analysis is meant to define the statistical relationship between sonographic parameters and TUS-M, in order to identify the most reliable predictor of the timing of menarche.<st...

hrp0082fc7.4 | Growth promoting therapies | ESPE2014

A Decade of Clinical Experience in a Swedish University Centre Using Prediction Models to Optimize GH Treatment in Prepubertal Children

Dahlgren Jovanna

Background: The individual growth response on a certain GH dose is an indirect measurement of tissue responsiveness to GH. Several models of predicting the first year growth response on GH treatment are published and a clinical trial has been performed based on these algorithms. However, no clinical unit has evaluated the practical use of these prediction models on GH treatment.Objective and Hypotheses: To use prediction models in clinical practice to ch...

hrp0095p1-375 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Effects of long-term puberty suppression and gender-affirming hormones on body composition and metabolic profile in a preclinical mouse model and a cohort of transboys

Dubois Vanessa , Ciancia Silvia , Claessens Frank , Craen Margarita , El Kharraz Sara , Kim Nari , Klink Daniel , Sommers Vera , Vanderschueren Dirk , Cools Martine

Background: The increasing number of transgender adolescents presenting in early puberty requires to investigate the effects of long-term puberty suppression and gender-affirming hormones (GAH) on body composition and metabolism. Clinical studies have ethical and practical limitations. A preclinical mouse model may be helpful to gain mechanistic insights.Methods: Prepubertal (4week-old) female mice were treated with the ...

hrp0095p1-572 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Long-term GnRHa use and bone health in transgender adolescents: can a mouse model inform clinical practice?

Ciancia Silvia , Dubois Vanessa , Claessens Frank , Craen Margarita , Doms Stefanie , El Kharraz Sara , Kim Nari , Klink Daniel , Vanderschueren Dirk , Cools Martine

Background: Transgender individuals increasingly present at gender services in childhood. Consequently, to suppress pubertal development, more adolescents are long-term exposed to gonadotropin-releasing hormone analogues (GnRHa), from onset of puberty until start of gender-affirming hormones (GAH), around 16 years. Prolonged GnRHa may compromise bone health more than shorter-term treatment. If earlier start of GAH, when psychologically indicated, may partially...

hrp0095p2-32 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

A novel pathogenic variant in PLS3 causing severe osteoporosis and vertebral fractures in an adolescent

García-Zarzuela Ana , Domínguez-Riscart Jesús , Paola Arellano-Ruiz , Carmen Rodríguez-Barrios , Silvia Modamio-Høybjør , Mª Lechuga-Sancho Alfonso

Introduction: Bone fragility or predisposition to fractures with low-impact energy is a rare but potentially limiting condition. Variations in PLS3 gene are a cause of monogenic osteoporosis due to the alteration of osteoclast and osteocyte function and bone mineralization. It is characterized by early-onset osteoporosis, peripheral fractures, vertebral compression fractures and thoracic kyphosis. Due to its X-linked inheritance, the phenotype is more severe i...

hrp0092rfc6.2 | Bone, Growth Plate and Mineral Metabolism Session 2 | ESPE2019

High Levels of LIGHT/TNFSF14 in Prader-Willi Syndrome

Brunetti Giacomina , Fintini Danilo , Crinò Antonino , Piacente Laura , Convertino Alessio , Concetta Colucci Silvia , Grano Maria , Grugni Graziano , Faienza Maria Felicia

Background: Low bone mineral density (BMD) has been found in up to 50% of adolescents and adults with Prader-Willi syndrome (PWS). High fracture risk has been described in adult PWS patients. However, the mechanism/s of low BMD in PWS have not been clarified. These patients also display high BMI-SDS that prompted us to evaluate the levels of LIGHTTNFSF14, a cytokine involved in pathological bone remodeling and obesity.Objecti...