hrp0095p2-48 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

An Unusual Case of Rickets and Anemia Due To Severe Nutritional Deficiency in A Child of Non-Caucasian Ethnicity

Urbano Flavia , Chiarito Mariangela , Moscogiuri Luigi , Felicia Faienza Maria

Background: Rickets is a disease due to a reduced mineralization of the rapidly growing bones (skull, ribs, wrists, knees, ankles) with consequent accumulation of non-mineralized bone matrix, called osteoid tissue. The most frequent cause of rickets is vitamin D and/or calcium deficiency caused by reduced sun exposure, inadequate dietary intake or malabsorption (nutritional rickets).Clinical history: R., a 1 year and 6 m...

hrp0095p1-33 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Primary or Secondary Bone Fragility? This is The Question

Urbano Flavia , Chiarito Mariangela , Brunetti Giacomina , Guarnieri Vito , Castori Marco , Felicia Faienza Maria

Background: Pediatric osteoporosis is a condition which can stem from genetic causes (Primary osteoporosis), from systemic diseases or from the chronic use of drugs that alter bone metabolism (secondary osteoporosis). Obesity affects bone health in several ways, including bone remodeling, proinflammatory cytokine production and bone marrow microenvironment alteration. We describe the case of a boy who presented spontaneous vertebral fractures.<p class="abs...

hrp0097p1-330 | Growth and Syndromes | ESPE2023

A complex phenotype due to the overlap of two rare conditions: miller-mckusick-malvaux (3M) and chung-jansen syndrome

Chiarito Mariangela , Giordano Mara , Mellone Simona , Urbano Flavia , Felicia Faienza Maria

Introduction: I. was born at term by emergency caesarean delivery due to foetal distress, by unrelated parents. Birth weight: 2160 g (-3.18 SD), length 41.5 cm (-4.47 SD), head circumference 35.4 cm (0.57 SD). He was admitted in the neonatal intensive care unit (NICU) for the severe growth retardation associated to dysmorphic features. Neonatal screening, echocardiography and brain ultrasound normal. Karyotype: 46,XY.Case present...

hrp0089p1-p161 | Growth &amp; Syndromes P1 | ESPE2018

Analysis of Osteoblats Precursors in Girls with Turner Syndrome

Brunetti Giacomina , Chiarito Mariangela , Piacente Laura , Aceto Gabriella , Colucci Silvia , Colaianni Graziana , Grano Maria , D'Amato Gabriele , Felicia Faienza Maria

Background and aim: Subjects with Turner Syndrome (TS) show low cortical bone mineral density (BMD), osteoporosis and risk of fractures. Previously, we demonstrated the enhanced spontaneous osteoclastogenesis in girls and young women with TS before and after pubertal induction with hormonal replacement therapy (HRT). The bone resorption observed in girls before puberty induction seems to be supported by the high FSH serum levels observed at prepubertal stage, while in young wo...

hrp0095rfc3.3 | Early Life and Multisystem Endocrinology | ESPE2022

Analysis of A Series of Italian Apeced Patients with Autoimmune Liver Disease and Enteropathies

Fierabracci Alessandra , Cappa Marco , Pietrobattista Andrea , Felicia Faienza Maria , Capalbo Donatella , Valenzise Mariella , Lampasona Vito , Pagliarosi Olivia , Carbone Elena , Carolina Salerno Maria , Betterle Corrado

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED, OMIM240300) is a rare monogenic disease due to biallelic mutations in the Autoimmune Regulator (AIRE) gene. This encodes for a thymus-enriched transcription factor responsible for central immune tolerance. Classic diagnostic criteria are the presence of two of main symptoms of chronic mucocutaneous candidiasis (CMC), hypoparathyroidism (HP) and Addison’s disease (AD). Non-endocrine autoimmun...

hrp0097rfc3.2 | Fat, metabolism and obesity 1 | ESPE2023

Reduced central sensitivity to thyroid hormones in children and adolescents with overweight or obesity and impaired glucose tolerance.

Corica Domenico , Di Bonito Procolo , Rosaria Licenziati Maria , Di Sessa Anna , Miraglia Del Giudice Emanuele , Felicia Faienza Maria , Calcaterra Valeria , Franco Francesca , Maltoni Giulio , Valerio Giuliana , Wasniewska Malgorzata

Background: Thyroid hormones (TH) play multiple effects on glucose metabolism. Some recent studies carried out in adult patients suggested an association between altered sensitivity to TH and type 2 diabetes, obesity, and metabolic syndrome. No studies are currently available on the presence of altered sensitivity to the action of TH in youths with prediabetes.Objective: To evaluate the relationship between sensitivity t...

hrp0097p1-404 | Adrenals and HPA Axis | ESPE2023

Nephrocalcinosis: an emerging issue in children with Congenital Adrenal Hyperplasia

Chiarito Mariangela , Lattanzio Crescenza , D'Ascanio Vito , Capalbo Donatella , Cavarzere Paolo , Grandone Anna , Luongo Caterina , Pepe Giorgia , Wasniewska Malgorzata , Zoller Thomas , Salerno Mariacarolina , Felicia Faienza Maria

Hypercalcemia and nephrocalcinosis (NC) are rare findings associated with congenital adrenal hyperplasia (CAH), whose pathogenetic mechanisms are still unclear. In this study we aimed to investigate the prevalence of NC in a cohort of Italian children affected with classical form of CAH, and to correlate its association with metabolic control of the disease.Subjects and Methods: This is a multicenter one year-perspective study involving ...

hrp0097p1-405 | Adrenals and HPA Axis | ESPE2023

Multicenter study on clinical, biochemical and ultrasonographic characteristics, therapeutic management and outcome of TART in males with congenital adrenal hyperplasia.

Corica Domenico , Baronio Federico , Janus Dominika , Russo Gianni , Ortolano Rita , Starzyk Jerzy , Rita Stancampiano Marianna , Salerno Mariacarolina , Felicia Faienza Maria , Grandone Anna , Curatola Selenia , Capalbo Donatella , Wasniewska Malgorzata

Objectives: 1. To describe the clinical, biochemical and testicular ultrasonographic features in a population of males with congenital adrenal hyperplasia (CAH) and Testicular Adrenal Rest Tumor (TART). 2. To identify factors related to the onset of TART. 3. To evaluate the therapeutic management and outcome of TART.Methods: Males with classic and non-classic 21β-hydroxylase-deficient CAH, diagnosed with TART, follo...

hrp0097p1-99 | GH and IGFs | ESPE2023

Clinicians’ perceptions on ease of use and usefulness of Aluetta® Smartdot™ and comprehensive digital health ecosystem in Italy to support patients receiving r-hGH treatment

Felicia Faienza Maria , Vergani Edoardo , Di Mase Raffaella , Frasca Francesco , Giavoli Claudia , Klain Antonella , Laura Iezzi Maria , Aversa Antonio , Koledova Ekaterina , Rivera Romero Octavio

Background: Aluetta® Smartdot™ (Merck Healthcare KGaA, Darmstadt, Germany) is first of its kind digitally connected smart injection pen device for recombinant-human growth hormone (r-hGH) administration. Aluetta® pen with Smartdot™ knob attachment integrated with Growzen™ digital ecosystem enables healthcare professionals (HCPs) to remotely monitor adherence and achieve optimal clinical outcomes for patients....

hrp0095p1-413 | Adrenals and HPA Axis | ESPE2022

Incidence and severity of Coronavirus Disease 2019 (COVID-19) in children with primary and secondary adrenal insufficiency during the pandemic in Italy

Moracas Cristina , Russo Gianni , Baronio Federico , Ortolano Rita , Rita Stancampiano Marianna , Cavarzere Paolo , Zoller Thomas , Longhi Silvia , Felicia Faienza Maria , Patti Giuseppa , Elisabeth Street Maria , Guzzetti Chiara , Valenzise Mariella , Giavoli Claudia , Salerno Mariacarolina , Capalbo Donatella

Background: Adrenal insufficiency (AI) is a rare condition caused by an inadequate production of glucocorticoids. Preliminary data in adults suggest that AI could be associated with an increased susceptibility to infections; moreover, AI patients are at risk to develop a severe course of infectious diseases and to experience a life-threatening adrenal crisis. The aim of our study is to evaluate the severity and the outcome of COVID-19 in pediatric AI patients ...