hrp0094p2-293 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Effects of GH replacement therapy on body composition and muscle health in children and adolescents with GH deficiency: one-year prospective case-control study.

Improda Nicola , Capalbo Donatella , Di Mase Raffaella , Di Pinto Rosita , Alicante Paola , Scalfi Luca , Salerno Mariacarolina ,

Background: The effects of GH deficiency (GHD) and GH replacement therapy (GHRT) on body composition and functional measures of physical fitness are largely unknown particularly in children.Study aim: To evaluate body composition, muscular strength and flexibility, and exercise tolerance in GHD children at baseline and after one-year GHRT.Patients and methods: We enrolled 19 children and adolescents with untreated ...

hrp0082p3-d1-819 | Growth | ESPE2014

Body Composition in GH Deficient Children: Effects of GH Therapy and Comparison Between DXA and Anthropometric Data

Capalbo Donatella , Esposito Andrea , Cerbone Manuela , Rezzuto Martina , Di Pinto Rosita , Mainolfi Ciro , Salerno Mariacarolina

Background: GH deficiency (GHD) in adults has been consistently associated with increased adiposity and decreased lean mass. Data in childhood are still scanty and the most appropriate tools to assess body composition in these children remain to be established.Objective and hypotheses: To evaluate the effects of GHD and GH replacement therapy (GHRT) on body composition in GHD children and make a comparison between DXA and anthropometric measures in evalu...

hrp0082p3-d1-975 | Thyroid | ESPE2014

Prevalence of Additional Autoimmune Diseases in Autoimmune’s Thyroiditis Children and Their First- and Second-Degree Relatives: Results from a Large, Single-Center Study

De Martino Lucia , Di Donato Iolanda , Alfano Sara , D'Acunzo Ida , Di Pinto Rosita , Capalbo Donatella , Salerno Mariacarolina

Background: Autoimmune’s thyroiditis (AT) is the most common cause of thyroid diseases in children and adolescents with a peak in early to mid-puberty (prevalence of 0.3–1.2%). Previous studies showed a high rates of familiarity for autoimmune disease (AD) and co-existing autoimmunity in AT subjects.Objective and hypotheses: Aim of our study is to investigate familiarity for AD and co-existing autoimmunity in a large cohort of pediatric AT pati...

hrp0089p2-p045 | Bone, Growth Plate & Mineral Metabolism P2 | ESPE2018

An Unusual Case of Hypophosphatemia in a Child Affected by Di George Syndrome

Kalapurackal Mila Ann , Barzaghi Federica , Pitea Marco , Cassano Gilda , Weber Giovanna

A female child born from non consanguineous parents of Pakistani origin presented with congenital heart anomaly at prenatal ultrasound and confirmed at birth, with type B aortic arch interruption, right-sided aortic arch, wide ventricular and atrium septum defects, which required repeated surgical corrections during the first 9 months of life. The ultrasound also reported absence of the thymus. Suspecting Di Deorge Syndrome, a fluorescent in situ hybridization (FISH) ...

hrp0095p1-547 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Project to improve paediatric post-neurosurgical fluid management and to reduce the risks associated with Diabetes Insipidus (DI), Syndrome of Inappropriate ADH (SIADH) and Cerebral Salt Wasting (CSW).

Miller-Molloy Felix , Saxena Shreya , Bowen Philippa , Fellows Greg , Crowne Liz

Background: Complex fluid balance problems are well established post-neurosurgery and traumatic brain injury (TBI). The triple-phase response requires fluid management strategies reactive to urine output as patients shift between DI and SIADH. Prevalence of CSW is controversial; but ensuring sodium homeostasis is central to safe fluid management. To improve clinical care for these complex patients an audit of existing institutional guidelines was undertaken. N...

hrp0092p3-244 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Four-Year Experience of a New Referral Center for Gender Non-Conforming Children and Adolescents in North-East of Italy

Tornese Gianluca , Roia Anna , Cosentini Dora , Morini Giovanna , Di Grazia Massimo , Carrozzi Marco , Barbi Egidio

Objectives: To describe the patients with gender non-conforming referred to a pediatric medical center after creation of the multidisciplinary team "APEVAGE" (Ambulatorio Pediatrico per la Varianza di Genere, Pediatric Clinic for Gender Variance) composed by pediatric endocrinologist, psychologist and child psychiatrist at Institute for Maternal and Child Health "Burlo Garofolo" in Trieste. It is one of the 8 centers recognized by ONIG (Osserva...

hrp0086p1-p610 | Growth P1 | ESPE2016

One Year Use of Anastrazole Improves the Predicted Adult Height of Male Adolescents with and without Associated GH Therapy

Pinto Renata Machado , Goncalves Macks Wendhell

Background: Estrogen is an essential regulator of bone maturation, growth plate fusion, and cessation of longitudinal growth. Aromatase inhibitors (AI) block the conversion of androgens to estrogens, and can be used to delay bone maturation in males.Objective and hypotheses: We sought to determine whether the blockage of estrogen biosynthesis due to the use of the AI Anastrazole increases the Predicted Adult Height (PAH) in boys with short stature.<p...

hrp0084p3-1012 | Growth | ESPE2015

Case Report of Wolf-Hirschhorn Syndrome by Chromosomal Microarray Analysis: Importance of the Molecular Investigation for the Aetiological Diagnosis of Short Stature

Pinto Renata , Pinto Irene , Minasi Lysa , Cunha Damiana , Ribeiro Cristiano , Silva Claudio , Cruz Aparecido

Background: Growth is a complex process influenced by several genetic factors both pre and postnatal, in which 80% of the height variation is explained by genetic factors. Nevertheless, the standard medical evaluation of short stature (SS) relies upon physical examination and laboratory parameters and identifies a pathological cause of SS in 1–40% of individuals. Recent advances in genetic diagnosis are revolutionizing the clinician’s ability to obtain a molecular di...

hrp0089p1-p196 | Pituitary, Neuroendocrinology and Puberty P1 | ESPE2018

Endocrine Follow-up of Children with a History of Brain Tumour: Data from Our Large Cohort at Necker University Hospital, Paris, 2010–2015

Briceno Laura Gabriela Gonzalez , Samara-Boustani Dinane , Beltrand Jacques , Grill Jacques , Puget Stephanie , Dufour Christelle , Sainte-Rose Christian , Alapetite Claire , Pinto Graziella , Touraine Philippe , Valteau-Couant Dominique , Kariyawasam Dulanjalee , Aerts Isabelle , Beccaria Kevin , Bourgeois Marie , Roujeau Thomas , Blauwblomme Thomas , Rocco Federico Di , Thalassinos Caroline , Zerah Michel , Pauwels Christian , Brugieres Laurence , James Syril , Busiah Kanetee , Simon Albane , Bourdeaut Franck , Bolle Stephanie , Fresneau Brice , Michon Jean , Orbach Daniel , Guerrini-Rousseau Lea , Doz Francois , Polak Michel

Background: Brain tumours are the most frequent solid tumours during childhood. Many of these patients develop endocrine disorders.Objective: To describe our cohort of patients with primary brain tumours, followed in the Pediatric Endocrinology Unit at Hôpital Universitaire Necker–Enfants Malades, Paris, France between 2010–2015, to assess current practice and propose recommendations.Methods: Retrospective a...

hrp0094p1-185 | Pituitary B | ESPE2021

Puberty and pituitary-gonadal axis function after treatment for a childhood brain tumor

Rosimont Manon , Kariyawasam Dulanjalee , Samara-Boustani Dinane , Giani Elisa , Beltrand Jacques , Bolle Stephanie , Fresneau Brice , Puget Stephanie , Sainte-Rose Christian , Alapetite Claire , Pinto Graziella , Piketty Marie-Liesse , Brabant Severine , Abbou Samuel , Aerts Isabelle , Beccaria Kevin , Bourgeois Marie , Roujeau Thomas , Blauwblomme Thomas , Di Rocco Frederico , Thalassinos Caroline , Zerah Michel , Pauwels Christian , Rigaud Charlotte , James Syril , Busiah Kanetee , Simon Albanne , Bourdeaut Franck , Lemelle Lauriane , Guerrini-Rousseau Lea , Orbach Daniel , Touraine Philippe , Doz Francois , Dufour Christelle , Grill Jacques , Polak Michel , G. Gonzalez Briceno Laura ,

Introduction: Primary brain tumors are the second most common childhood malignancies, with an increasing survival rate over the years. Late effects on puberty and fertility alter survivors’ quality of life.Methods: We included 204 patients diagnosed with a primary brain tumor before 18 years, followed in pediatric endocrinology at the University Hospital “Necker-Enfants Malades” in Paris between January 20...