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...

hrp0092p1-249 | Pituitary, Neuroendocrinology and Puberty (1) | ESPE2019

Use of Desmopressin for Bilateral Inferior Petrosal Sinus Sampling (BIPSS) in Pediatric Patients with Cushing Disease (CD)

Gil Silvia , Di Palma Isabel , Vaiani Elisa , Viterbo Gisela , Requejo Flavio , Ramos Javier Gonzalez , Lazzati Juan Manuel , Lubieniecki Fabiana , Rugilo Carlos , Ciaccio Marta

Introduction: BIPSS before and after desmopressin stimulation has been shown to be a useful tool for diagnosis of ACTH-dependent CD and negative magnetic resonance imaging (MRI)or positive MRI but inconsistent biochemical data, in adult patients. However, little is known about its usefulness in pediatric population.Objective: To evaluate the prevalence of negative MRI, the sensitivity of BIPSS before and after desmopress...

hrp0089fc15.2 | Growth and Syndromes | ESPE2018

Effects of Caloric Restriction During Gestation on the Methylome of Offspring’s Adipose Tissue and Reversibility of Such Effects by Metformin in a Swine Model

Xargay-Torrent Silvia , Carreras-Badosa Gemma , Tibau Joan , Reixach Josep , Lizarraga-Mollinedo Esther , Mas-Pares Berta , Prats-Puig Anna , de Zegher Francis , Ibanez Lourdes , Lopez-Bermejo Abel

Introduction: Maternal caloric restriction during gestation leads to offspring’s metabolic programming through epigenetic changes, which increase the risk of developing cardiovascular diseases in adulthood.Objectives: To study in a swine animal model: i) DNA methylation changes associated with caloric restriction during gestation in the adipose tissue of the offspring; and ii) the reversibility of these changes by metformin treatment.<p class="a...

hrp0089rfc6.6 | Fat, Metabolism and Obesity | ESPE2018

Effects of Cherry’s Extract on Increased Osteclastogenesis in Obese Children

Faienza Maria Felicia , Corbo Filomena , Carocci Alessia , Catalano Alessia , Piacente Laura , Clodoveo Maria Lisa , Bortolotti Sara , Storlino Giuseppina , Colucci Silvia , Grano Maria , D'Amato Gabriele , Brunetti Giacomina

The accumulation of adipose tissue, especially visceral fat, represents a risk factor for reduced bone mineral density and spontaneous fractures. Several mechanisms have been proposed to explain the complex relationship between adipose tissue and bone. Obesity is associated with the production of inflammatory cytokines both by adipocytes and immune cells which may stimulate bone resorption and reduce bone strength. Studies in vitro and in vivo have reported t...

hrp0089rfc7.4 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2018

Expression of MIR-576-5p in Umbilical Cord as a Novel Biomarker for the Identification of Catch-up Growth in Small-For-Gestational-Age Infants

Bassols Judit , Mas-Pares Berta , Bonmati Alexandra , Xargay-Torrent Silvia , Carreras-Badosa Gemma , Lizarraga-Mollinedo Esther , Martinez-Calcerrada Jose-Maria , de Zegher Francis , Ibanez Lourdes , Lopez-Bermejo Abel

Background: Early catch-up growth, between birth and age two years, in infants born small-for-gestational-age (SGA) is a risk factor for the development of cardiometabolic diseases in adulthood. The basis and mechanisms underpinning catch-up growth in SGA newborns are unknown.Objectives: We aimed to investigate the catch-up predictive ability of cord blood miRNAs in SGA infants.Methods: MicroRNA PCR Human Panels were used to study ...

hrp0089p1-p098 | Fat, Metabolism and Obesity P1 | ESPE2018

Placental Fatty Acid Profile, DNA Methylation and Adverse Metabolic Outcomes in the Offspring at School Age

Bassols Judit , Xargay-Torrent Silvia , Mas-Pares Berta , Lizarraga-Mollinedo Esther , Prats-Puig Anna , Bonmati Alexandra , Martinez-Calcerrada Jose-Maria , Zegher Francis de , Ibanez Lourdes , Lopez-Bermejo Abel

Background: The placenta plays a key role in regulating fatty acid (FA) transport from maternal to fetal circulation. An unfavourable FA profile in the placenta, reflecting an inadequate nutritional status during pregnancy, may cause changes in placental DNA methylation and negatively affect fetal growth and metabolic health of the offspring.Objectives: We aimed to study the association of an unfavourable placental FA profile with placental DNA methylati...

hrp0089p2-p307 | Pituitary, Neuroendocrinology and Puberty P2 | ESPE2018

The Effect of GnRH-Analogue Therapy on the Quality of Life of Patients with Central Precocious Puberty and Their Families

Lucaccioni Laura , Pugliese Marisa , Manzotti Elena , Bruzzi Patrizia , Righi Beatrice , Poluzzi Silvia , Madeo Simona F , Bigi Elena , Predieri Barbara , Iughetti Lorenzo

Introduction: Quality of life (QoL) is a multidimensional indicator including several functions and represents an important evaluator of patient’s health, especially in chronic diseases. Treatment with aGnRH in Central Precocious Puberty (CPP) is source of stress for patients and families. The aim of our study is to evaluate QoL and levels of therapy-related stress in patients with CPP and in their families during and after treatment.Material and me...

hrp0086fc5.6 | Management of Disorders of Insulin Secretion | ESPE2016

Impact of Continuous Subcutaneous Insulin Infusion versus Multiple Daily Injections on Bone Health in Children and Adolescents with Type 1 Diabetes

Faienza Maria Felicia , Delvecchio Maurizio , Ventura Annamaria , Aceto Gabriella , Piacente Laura , Zecchino Clara , Colucci Silvia , Grano Maria , Cavallo Luciano , Brunetti Giacomina

Background: Type 1 diabetes (T1DM) is associated with low bone mineral density (BMD) and bone alterations, probably due to lack of insulin and chronic hyperglycemia. Sclerostin and Dickkopfs-1 (DKK-1) are Wnt signaling inhibitors involved in bone remodelling.Objective and hypotheses: To assess serum levels of DKK-1 and sclerostin in T1DM children and adolescents on continuous subcutaneous insulin infusion (CSII) or multiple daily therapy (MDI). We hypoth...