hrp0084fc14.5 | Puberty | ESPE2015

Polybrominated Diphenyl Ethers (PBDEs) and Timing of Puberty in Girls

Deodati Annalisa , Sallemi Alessia , Maranghi Francesca , Busani Luca , Cambiaso Paola , Mancini Francesca , Scire Giuseppe , Spadoni Gian Luigi , Marini Romana , Baldari Francesca , Tassinari Roberta , Cianfarani Stefano

Background: Polybrominated diphenyl ethers (PBDEs) are widely used as flame retardants and have shown endocrine disruption properties in experimental studies. Preliminary studies in animal models have suggested a link between exposure to PBDE and alterations of puberty and reproduction.Objective and hypotheses: To investigate the association between the exposure to PBDEs and alterations of puberty in girls, referred for idiopathic premature thelarche (IP...

hrp0094p1-197 | Thyroid B | ESPE2021

Management of newborns born to mothers with autoimmune hypothyroidism

Cavarzere Paolo , Palma Laura , Camilot Marta , Vincenzi Monica , Teofoli Francesca , Principe Lara Nicolussi , Gaudino Rossella , Murri Virginia , Pepaj Orsiol , Lubrano Luigi , Rossi Giuliana , Sallemi Alessia , Fattori Ermanna , Lauriola Silvana , Antoniazzi Franco ,

Background: Maternal autoimmune hypothyroidism can have negative consequences on the fetus: on the one hand, maternal hypothyrosinemia might affect the fetal brain development in the early stages of pregnancy; on the other, thyroid inhibiting antibodies can pass through the placenta. It is currently unclear if these antibodies may affect the newborn’s thyroid function. Consequently, there are no certain indications regarding the management of newborns bor...

hrp0086p1-p101 | Bone & Mineral Metabolism P1 | ESPE2016

Effect of Bisphosphonates on Bone Fragility Due to Chronic Liver Disease in Ten Children

Gonzales Emmanuel , Darce Martha , Usardi Alessia , Linglart Agnes

Background: Children suffering from chronic liver disease (CLD) may develop rickets, impaired bone mineralization and are exposed to an increased risk of osteoporotic fractures. Bisphosphonate (BP) is used in children to increase the bone density and reduce the fracture incidence. Up to date, no study showing the effect of this treatment in children suffering from CLD has been reported.Objective and hypotheses: Evaluate the effect of BPs in children with...

hrp0086p2-p151 | Bone & Mineral Metabolism P2 | ESPE2016

Progressive Development of PTH Resistance in Patients with Maternal GNAS Inactivating Mutations

Usardi Alessia , Mamoune Asmaa , Nattes Elodie , Rothenbuhler Anya , Linglart Agnes

Background: Pseudohypoparathyroidism (PHP) is a group of disorders characterized by end-organ resistance to the parathyroid hormone (PTH). PHP type 1A is caused by mutations in GNAS exon 1 through 13 with multihormone resistance (PTH, TSH and gonadotropins), Albright’s hereditary osteodystrophy, and obesity. However, patients often do not present with elevated levels of PTH until after the first years of life.O...

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...

hrp0089p2-p043 | Bone, Growth Plate & Mineral Metabolism P2 | ESPE2018

Metabolic Syndrome in Children with X-linked Hypophosphatemic Rickets (XLHR)

Lambert Anne-Sophie , Saadeddine Sanaa , Rothenbuhler Anya , Ussardi Alessia , Trabado Severine , Linglart Agnes

Introduction: X-linked hypophosphatemic rickets (XLHR) is due to mutations in the PHEX gene inducing increased levels of fibroblast growth factor 23 (FGF23), phosphate wasting, hence rickets. FGF23 is suspected to be as an important metabolic regulator of glucose and lipid metabolism.Objective: To describe the metabolic profile (body mass index, blood pressure, glucid and lipid profile) in patients with XLHR and evaluate the correlation between FGF23 lev...

hrp0089p2-p284 | Multisystem Endocrine Disorders P2 | ESPE2018

Endocrine and Metabolic Complications in Children and Adolescents with Sickle Cell Disease: An Italian Cohort Study

Bigi Elena , Bruzzi Patrizia , Palazzi Giovanni , Predieri Barbara , Lucaccioni Laura , Pancaldi Alessia , Lodi Mariachiara , Cellini Monica , Iughetti Lorenzo

Background: Children with Sickle Cell Disease (SCD) show endocrine complications and metabolic alterations. The physiopathology of these conditions is not completely understood: iron overload due to chronic transfusions, ischemic damage, and inflammatory state related to vaso-occlusive crises may be involved. Aims of this study were to evaluate the growth pattern and the endocrine and metabolic alterations in a cohort of children with SCD and to detect the relationship between...

hrp0086p2-p970 | Thyroid P2 | ESPE2016

Rare Case of Severe Hyperthyroidism due to Grave’s Disease in a Female Toddler

Salemi Parissa

Background: Hyperthyroidism due to Grave’s disease (GD) in children has a peak incidence between 10 and 15 years of age. It is a rare but serious disorder that if uncontrolled can have serious adverse outcomes on growth and development as well as health. The incidence of GD is believed to be between 0.1 and 3 per 100 000 children in the general population with a prevalence of 1/10 000 children in the US. GD is rare under the age of 5 years.Objective...

hrp0086p2-p971 | Thyroid P2 | ESPE2016

Youngest Known Case of Autoimmune Thyroiditis Causing Hyperthyroidism in a Down’s Syndrome Toddler

Salemi Parissa

Background: The frequency of thyroid disease is elevated in patients with Down’s syndrome starting in the newborn period where it is 0.7% (28× more frequent than in the general population). Most commonly, thyroid dysfunction in Downs Syndrome includes primary hypothyroidism, pituitary–hypothalamic hypothyroidism, TBG deficiency and chronic lymphocytic thyroiditis. The incidence of Grave’s disease is believed to be between 0.1 and 3 per 100 000 children in t...

hrp0092fc8.5 | Pituitary, Neuroendocrinology and Puberty Session 1 | ESPE2019

LGR4-Wnt β-Catenin Signalling Directs GnRH Network Development, with Defects Leading to Self-Limited Delayed Puberty

Mancini Alessandra , Howard Sasha R. , Cabrera Claudia P. , Barnes Michael R. , David Alessia , Wehkalampi Karoliina , Vassart Gilbert , Cariboni Anna , Garcia Marie Isabelle , Guasti Leonardo , Dunkel Leo

Background: The initiation of puberty is dependent upon an augmentation of gonadotropin-releasing hormone (GnRH) secretion from the hypothalamus. Development of the GnRH neuroendocrine network in embryonic life depends on coordinated migration of neurons from the vomeronasal organ in the nose to the forebrain. We have previously demonstrated that dysregulation in GnRH neuronal migration leads to delayed pubertal onset. Late puberty affects up to 2% of the ...