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...

hrp0098p1-102 | Thyroid 1 | ESPE2024

Diagnosis and treatment of a child affected with a novel thyroid hormone receptor alpha (thra) gene mutation

Felicia Faienza Maria , Giardinelli Silvia , Antonio Moscogiuri Luigi , Urbano Flavia , Matera Emilia , Refetoff Samuel

Case report: We describe a 4-year-old girl, born by vaginal delivery after 41 weeks gestational (length: 55 cm, 99thcentile, weight: 4.8 kg, 99th centile). TSH on newborn screen was normal. Evaluated in the first month of life by gastroenterologists for severe constipation required several hospitalizations and investigation by endoscopy, biopsy, and rectal manometry. Constipation was treated by continuous polyethylene glycol administratio...

hrp0098p3-320 | Late Breaking | ESPE2024

Predictive factors of persistent gh deficiency and impact on the final height: a retrospective cohort study

Urbano Flavia , Chiarito Mariangela , Antonio Moscogiuri Luigi , Lattanzio Crescenza , Valerio Giannico Orazio , Annesi Gabriele , Zecchino Clara , Maria Felicia Faienza

Introduction: Most children with isolated GH deficiency (GHD) show a normal GH secretion upon reaching final height (FH). The aimof our study was to identify the predictive factors of persistent GHD and the correlation with the response to recombinant GH (rhGH) therapy in terms of height gain upon reaching FH and compared to target height (TH).Method: In this retrospective study, we evaluated medical records of GHD subje...

hrp0098p3-95 | Fat, Metabolism and Obesity | ESPE2024

Fructose intake is associated with masld in pediatric obesity

Felicia Faienza Maria , Farella Ilaria , Cecere Valentina , Monteduro Mariantonietta , Chiarito Mariangela , Urbano Flavia , Baim a Jessica , Antoniotti Valentina , Tini Sabrina , Prodam Flavia

Background: Fructose consumption in children is increasing, as is the prevalence of metabolic dysfunction-associated steatotic liver disease (MASLD). Despite the growing evidence supporting the effects of added sugars in the development of metabolic syndrome and related comorbidities, the association between fructose intake and liver diseases remains to be clarified, especially in young people. Our study aim ed to evaluate the role of fructose intake on metabo...