hrp0097p1-536 | Multisystem Endocrine Disorders | ESPE2023

Development and implementation of a Pediatric Endocrinology Education Program in Francophone Africa(In French: Programme de formation en Endocrinologie et Diabètologie Pédiatrique pour l’Afrique subsaharienne Francophone [PEDAF])

Niang Babacar , Boiro Djibril , Bretones Patricia , Chetcha Bodieu Adèle , de Beaufort Carine , Ladjouze Asmahane , Léger Juliane , Mbono Betoko Ritha , Vassili Missambou Mandilou Steve , Sap Ngo Um Suzanne , von Oettingen Julia , Chanoine Jean-Pierre

Introduction: Non-communicable diseases are recognized as a major cause of morbidity in low and middle-income countries (LMICs). There are 21 francophone countries (>100 million speak French) in Sub-Saharan Africa (FSSA). We identified only 19 pediatric endocrinologists in FSSA (37% in Cameroon and Senegal) mostly trained in France or through the successful anglophone “Paediatric Endocrine Training Centers for (West) Africa” (PETC[W]A) offered i...

hrp0095rfc1.5 | Thyroid | ESPE2022

“Screening for congenital hypothyroidism in preterm newborns: Thyroid Stimulating Hormone (TSH) percentiles for weight and gestational age and congenital hypothyroidism features”

Gerdi Tuli , Jessica Munarin , Kristela Topalli , Daniele Tessaris , Patrizia Matarazzo , Luisa De Sanctis

Background: Preterm newborns (PN) are at risk of developing congenital hypothyroidism (CH) with a high reported incidence (1:300 vs 1:2000 for at term newborns). The study's objective was to determine the TSH percentiles at neonatal screening (NS) in PN and to analyze the incidence of permanent and transient CH in this population.Materials and Methods: PN born in the Piedmont Region of Italy in the period 2019-2021 ...

hrp0095p1-487 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2022

Early-Life Exposure to Phthalates in A Population of Infants from The North of Italy: Characterization and Time Trends

Lucaccioni Laura , Righi Elena , Trevisani Viola , Passini Erica , Palandri Lucia , Bruzzi Patrizia , Predieri Barbara , Iughetti Lorenzo

Background: Phthalates are ubiquitous environmental contaminants and endocrine-disrupting chemicals (EDCs). Nowadays, they are considered reproductive toxicants and in-utero exposure is well documented, although evidence of early life exposure is scarce, and needs to be described. Aim of this study is to assess phthalate exposure and its changes over the first months of life in a cohort of healthy full term infants and their mothers from a restricted area of t...

hrp0095p1-349 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Use of Urinary Gonadotropins for The Evaluation of the Minipubertal Profile in Term Newborns and Infants Within The First Six Months of Age

Lucaccioni Laura , Trevisani Viola , Passini Erica , Palandri Lucia , Bruzzi Patrizia , Predieri Barbara , Righi Elena , Iughetti Lorenzo

Background: The activation of the hypothalamus-pituitary-gonadal (HPG) axis during the first months both in males(M) and females(F) is named as minipuberty. Urinary gonadotropins (uGn) represent an unexpensive and non-invasive method of assessing pubertal development and they have recently been used also for studying minipuberty.Aims of the study are: 1) to describe the urinary hormonal pattern (uLH, uFSH, testosterone – uT, oestra...

hrp0095p2-43 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Clinical-molecular assistance pathway for primary bone fragility: a pediatric monocentric experience

Tessaris Daniele , Gavello Federica , Bonino Elisa , Tuli Gerdi , Matarazzo Patrizia , Deaglio Silvia , de Sanctis Luisa

Bone fragility is a more typical condition of old age, linked to physiological aging. In pediatric age, on the contrary, it represents a rare problem, but more often has an underlying primary cause. This condition manifests itself in most cases with recurrent or abnormal fractures and bone deformities, with a limitation of mobility, bone pain and consequent reduction in the quality of life of the child. The great difficulty for the clinician consists in reaching a correct diag...

hrp0095p2-288 | Thyroid | ESPE2022

Case Report: the rare case of pediatric myxedema due to an unrecognized chronic autoimmune hypothyroidism

Bonino Elisa , Matarazzo Patrizia , Buganza Raffaele , Tuli Gerdi , Munarin Jessica , Bondone Claudia , de Sanctis Luisa

Hypothyroidism is the most common thyroid disorder in children. It usually presents with nonspecific symptoms, that can be mild and occur slowly over time, compromising a timely diagnosis, with possible effects on pituitary gland, multiple organs and growth. In case of long-standing unrecognized hypothyroidism, myxedema or myxedema coma can occur, rare but severe conditions. This case report describes an adolescent presenting with extensive trunk and neck swelling. After exclu...

hrp0092rfc3.5 | Multi-system Endocrine Disorders | ESPE2019

Evaluation of Endothelial Function in Childhood Standard Risk Acute Lymphoblastic Leukemia Survivors: Role of Subclinical Markers and Identification of Preventable Factors

Bruzzi Patrizia , Bigi Elena , Felici Francesca , Righi Beatrice , Cano Carmen , Cellini Monica , Predieri Barbara , Iughetti Lorenzo

Background: Adult survivors from childhood malignancy are prone to accelerated atherogenesis and cardiovascular (CV) complications. In this population reliable tools are needed to detect preclinical onset of CV disease.Aim: To assess subclinical markers of inflammation and endothelial dysfunction in young survivors from acute lymphoblastic leukemia (ALL) treated with chemotherapy without cranial irradiation (AIEOP 2000 a...

hrp0092p1-20 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Long-term Teriparatide (rhPTH) Treatment in Children with Syndromic Hypoparathyroidism

Buganza Raffaele , Tuli Gerdi , Matarazzo Patrizia , Tessaris Daniele , De Sanctis Luisa

Background: Hypoparathyroidism is characterized by absence or inadequately low circulating concentrations of parathyroid hormone, resulting in hypocalcaemia, hyperphosphataemia and elevated fractional excretion of calcium in the urine. The use of activated vitamin D analogues and calcium supplements are recommended as the primary therapy. To avoid vitamin D and calcium side effects, subcutaneous recombinant human parathormone [rhPTH (1-34)] has been proposed f...

hrp0092p1-400 | Pituitary, Neuroendocrinology and Puberty (2) | ESPE2019

Plasma Copeptin Distribution in the Pediatric Age: A Useful Diagnostic Tool for AVP-Related Disorders

Tuli Gerdi , Tessaris Daniele , Buganza Raffaele , Matarazzo Patrizia , De Sanctis Luisa

Introduction: Copeptin is a stable AVP surrogate, secreted in equimolar relationship, who has been proposed for the diagnosis of AVP-related hypo and hypernatremic disorders, i.e. the syndrome of inappropriate ADH secretions (SIADH), the cerebral/renal salt wasting syndrome (C/RSW) and diabetes insipidus (DI). Few data exist about the normal ranges for plasma copeptin levels in the pediatric age, reported between 2.4-8.6 pmol/L. The aim of this study is to rep...

hrp0092p2-208 | Multisystem Endocrine Disorders | ESPE2019

Autoimmune Polyendocrine Sydrome Type I: A Neuroendocrine Multi-Systemic Disease with a Variable Expressivity

Carpino Andrea , Pinon Michele , Montin Davide , Tuli Gerdi , de Sanctis Luisa , Matarazzo Patrizia

Introduction: Autoimmune polyendocrine syndrome type I (APS-1) also called autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare monogenic autosomal recessive disease known by the triad of the major components hypoparathyroidism, primary adrenocortical insufficiency and chronic mucocutaneous candidosis. However, many minor diseases could be present such as other endocrine manifestations (gonadal insufficiency, DM type 1, thyroid dis...