hrp0098p2-283 | Thyroid | ESPE2024

Evaluation of thyroid function in a pediatric cohort with chronic spontaneous urticaria: a retrospective, monocenter, observational study

Foti Randazzese Simone , Manti Sara , Salzano Giuseppina , Crescenti Roberta , Scilipoti Mariagrazia , Caminiti Lucia , Crisafulli Giuseppe , Gabriela Wasniewska Malgorzata , Valenzise Mariella

Introduction: Chronic urticaria (CU) affects about 0.3% of pediatric subjects worldwide. Most cases have not identifiable triggers and are classified as chronic spontaneous urticaria (CSU). Etiopathogenesis is complex and the role of thyroid diseases has been widely studied. Indeed, subjects with CSU are held to often have autoimmune disorders, including autoimmune thyroid diseases. This study aims to analyze the possible association of thyroid autoimmunity in...

hrp0098p3-30 | Bone, Growth Plate and Mineral Metabolism | ESPE2024

Red flag for the diagnosis of non-nutritional rickets: experience of a single centre in Southern Italy

Toscano Fabio , Corica Domenico , Foti Randazzese Simone , Coco Roberto , Pepe Giorgia , Anna Morabito Letteria , Aversa Tommaso , Wasniewska Malgorzata

Introduction: Non-nutritional rickets forms are often unrecognized. A late diagnosis could negatively affect the outcome. The aimof this study is to identify peculiar clinical and biochemical signs at the onset of non-nutritional rickets to promote early diagnosis.Materials and Methods: A retrospective monocentric observational study was conducted on a sample of outpatients consecutively evaluated at the pediatric endocr...

hrp0098p3-110 | Fat, Metabolism and Obesity | ESPE2024

Correlation between bone remodeling biomarkers and glucose metabolism in pediatric patients with essential obesity

Sbilordo Serena , Salzano Giuseppina , Maria Cassone Carlo , Patafi Silvia , D'Amico Federica , Luppino Giovanni , Wasniewska Malgorzata , Catalano Antonino , Valenzise Mariella

Background: Recent studies suggest that osteocalcin (OC) promotes glucose and lipid metabolism via ACAM, integrin αVβ3, GLUT1 and GLUT8 expression, directly affecting adipocytes. OC represents a link between bone and glucose metabolism; it stimulates insulin and stimulates pancreatic β-cells proliferation through Gprc6a receptor. Low levels of OC were observed in adult patients with Type 2 DM suggesting an association with glucose into...

hrp0098p3-132 | GH and IGFs | ESPE2024

Factors influencing adherence and therapy-related stress in children and adolescents on daily rhGH treatment.

Corica Domenico , Lugarà Cecilia , Ferraloro Chiara , Alibrandi Angela , Pecoraro Maria , Pepe Giorgia , Anna Morabito Letteria , Aversa Tommaso , Wasniewska Malgorzata

Background: Recombinant human growth hormone (rhGH) therapy is a long-term injection treatment that can be burdened by poor adherence. Although adherence rates are usually good in childhood, children and adolescents can be particularly stressed by daily injections, resulting in a low quality of life (QoL).Objectives: To assess the degree of adherence and stress related to daily rhGH treatment based on data reported by pa...

hrp0098p3-151 | Growth and Syndromes | ESPE2024

Assessment of growth in children with iron deficiency anemia treated with ferrous iron.

Foti Randazzese Simone , Manti Sara , Zirilli Giuseppina , Caim e Flavia , Arcoleo Martina , Gabriela Wasniewska Malgorzata , Valenzise Mariella

Introduction: Iron deficiency anemia is the most common form of anemia in pediatric age. It affects 20.1% of children aged 0-4 years old and 5.9% of children aged 5-14 years old in the Western World with profound implications for the growth. Dietary changes and iron supplementation may be crucial. This study aims to assess the correlation between growth and iron deficiency in children and the effects of ferrous iron treatment on the auxological parameters....

hrp0098p3-167 | Growth and Syndromes | ESPE2024

Efficacy of alternative Somatropine-rhGH treatment for the management of SHOX-related short stature

Guazzarotti Laura , Felicia Faienza Maria , Gallo Francesco , Gaudino Rossella , Cristina Maggio Maria , Pozzobon Gabriella , Salerno Mariacarolina , Wasniewska Malgorzata , Cappa Marco

Introduction: The short stature homeobox-containing gene, SHOX, encodes a homeodomain transcription factor responsible for a significant proportion of long-bone growth. Growth impairment is a common manifestation in SHOX deficient patients (SHOXD), with variable degrees of height disablement. The growth promoter treatment of SHOXD patients consists in the administration of recombinant human GH (rhGH). In Italy, the allowed formulation of rhGH (somatropine, Hum...

hrp0098p3-260 | Thyroid | ESPE2024

Evolution of subclinical hypothyroidism in infancy: a single-center longitudinal retrospective cohort study

Franchina Francesca , Lugarà Cecilia , Coco Roberto , Pepe Giorgia , Anna Morabito Letteria , Li Pomi Alessandra , Corica Domenico , Wasniewska Malgorzata , Aversa Tommaso

Background: Management of subclinical hypothyroidism (SH) in infancy is still controversial. According to the European Guidelines for Congenital Hypothyroidism (CH), in case of TSH levels between 6 and 20 µUI/ml, both levothyroxine (L-T4) therapy and a wait-and-see approach can be considered.Aim: to describe the evolution of SH diagnosed in newborns recalled by neonatal screening (TSH values ≥7µUI/ml)....

hrp0095p1-130 | Growth and Syndromes | ESPE2022

Osteogenesis imperfecta / Ehlers–Danlos (OI/EDS) overlap syndrome associated with a new COL1A1 variant (c.3235G>A, p.Gly1079Ser) in a girl with severe short stature and neuroblastoma

Letteria Anna Morabito , Elsa Maria Allegri Anna , Paola Capra Anna , Corica Domenico , Capasso Mario , Capra Valeria , Garaventa Alberto , Maghnie Mohamad , Briuglia Silvana , Gabriela Wasniewska Malgorzata

Background: Osteogenesis imperfecta / Ehlers–Danlos (OI/EDS) overlap syndrome is a rare and recently described disorder of connective tissue, characterized by mutation of COL1A1 (17q21.33) or COL1A2 (7q21.3) genes, involved in alpha-1 and alpha-2 chains of type 1 collagen synthesis. Patients with OI/EDS overlap syndrome could show a phenotype characterized by features of both osteogenesis imperfecta (bone fragility, long bone fractures, blue sclerae, sho...

hrp0092p2-182 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Auditory Phenotypes and Dynamics of Hearing Thresholds in 246 Turner Syndrome Females

Aversa Tommaso , Bruno Rocco , Santucci Simona , Messina Maria Francesca , Scarano Emanuela , Borrello Simona , Perri Annamaria , Costa Margherita , Casto Celeste , Alibrandi Angela , Mazzanti Laura , Wasniewska Malgorzata

Objectives: To describe the auditory phenotype and dynamics of hearing thresholds in patients with Turner Syndrome (TS).Patients and Methods: Cross-section study evaluating the hearing thresholds in 246 TS patients (age range 4-44 yrs). Patients were divided into three age groups: Group 1 (79 TS, age range 4.0-12.9 yrs); Group 2 (109 TS, age range 13.0-25.9 yrs,) and Group 3 (66 TS, age range 26.0-44.9 yrs,). Pure tone a...

hrp0092p3-164 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Longitudinal Evaluation of Audiological Pattern in Turner Syndrome

Aversa Tommaso , Bruno Rocco , Santucci Simona , Messina Maria Francesca , Borrello Simona , Scarano Emanuela , Perri Annamaria , Tamburrino Federica , Valenzise Mariella , Alibrandi Angela , Mazzanti Laura , Wasniewska Malgorzata

Objectives: To investigate prognostic markers (age, initial hearing level, karyotype, chronic hormonal therapies, and presence/absence of a mid-frequency dip influence) for hearing loss (HL) in Turner syndrome (TS).Design: Longitudinal cross-sectional and retrospective study.Study Population: 61 TS females (age range 4 - 45 yrs), diagnosed by cytogenetic analysis (49,2% monosom...