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

Fasting and meal-related zonulin serum levels in a large cohort of obese children and adolescents: a cross sectional study

Pepe Giorgia , Corica Domenico , Currò Monica , Aversa Tommaso , Alibrandi Angela , Bottari Marianna , Ientile Riccardo , Caccamo Daniela , Wasniewska Malgorzata

Background: due to its recently documented role in intercellular tight junction disassembly, zonulin has emerged as a valuable biological marker to assess the integrity of the intestinal mucosal barrier. Experimental studies have shown an association between intestinal permeability and obesity.Objectives: aim of this study was to investigate the relationship between serum zonulin levels, both at baseline and postprandial...

hrp0097p1-532 | Multisystem Endocrine Disorders | ESPE2023

Prevalence of endocrinopathies in a cohort of patients with Rett syndrome: a double center observational study

Pepe Giorgia , Stagi Stefano , Corica Domenico , Coco Roberto , Di Rosa Gabriella , Bossowski Filip , Skorupska Magdalena , Aversa Tommaso , Wasniewska Malgorzata

Objective: to assess the prevalence of endocrinopathies in a pediatric population of Rett syndrome (RTT) patients.Design: retrospective observational double center study.Methods: 51 caucasian patients (47 girls, 4 boy) with genetically confirmed diagnosis of RTT were enrolled (mean age: 9.65±5.9 years, range: 1-18 years). The patients were referred from the Rett Center of two It...

hrp0097p1-396 | Thyroid | ESPE2023

Hyperfunctioning follicular adenoma in a 9-year-old boy with Prader-Willi Syndrome

Toscano Fabio , Moleti Mariacarla , Aversa Tommaso , Campenni Alfredo , Fadda Guido , Dionigi Gianlorenzo , Romeo Carmelo , Wasniewska Malgorzata , Corica Domenico

Background: Thyroid nodules in children are less common than in adult but are about two-to three-fold at risk of being malignant compared to adults. Plummer's adenoma is a very rare occurrence in pediatrics; there is no literature evidence of this diagnosis in Prader-Willi Syndrome (PWS).Case Presentation: A 9-year-old boy, followed at our Pediatric Endocrinology Outpatients Clinic for PWS (maternal uniparental diso...

hrp0097p2-157 | Adrenals and HPA Axis | ESPE2023

ACTH-independent hypercortisolemia: onset clinical picture in a 10-year-old boy with Carney complex

Lugarà Cecilia , Bertherat Jerome , Aversa Tommaso , Pasmant Eric , Valenzise Mariella , Pepe Giorgia , Ferraù Francesco , Cannavò Salvatore , Wasniewska Malgorzata , Corica Domenico

Background: “Carney complex” is an autosomal dominant inheritance extremely rare genetic syndrome, usually determined by PRKAR1A (17q22-24) gene mutations. The clinical picture is characterized by speckled skin pigmentation; cardiac, cutaneous and mammary myxomas; schwannomas; endocrinopathies (acromegaly, Cushing syndrome due to primary pigmented nodular adrenocortical disease) and tumors of the endocrine glands.Case...

hrp0097p2-10 | Growth and Syndromes | ESPE2023

Overgrowth in a 12-years-old boy with distal chromosome 16 duplication syndrome

Abbate Tiziana , Aversa Tommaso , Briuglia Silvana , Pepe Giorgia , Li Pomi Alessandra , Moschella Antonino , Paola Capra Anna , Wasniewska Malgorzata , Corica Domenico

Background: Distal chromosome 16 duplication syndrome, also known as 16q partial trisomy, is a very rare genetic disorder. Smaller chromosomal copy number variants (CNVs) within the 16q region create partial trisomies, which occur less frequently than full trisomy 16q. Trisomy 16q is generally associated with a multisystemic phenotype including intrauterine growth restriction (IUGR), brain and cardiac defects, intellectual disability and an increased risk of b...

hrp0097p2-37 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

A male case of peripheral precocious puberty caused by testotoxicosis

Coco Roberto , Pepe Giorgia , Li Pomi Alessandra , Corica Domenico , Lugarà Cecilia , Valenzise Mariella , Wasniewska Malgorzata , Aversa Tommaso

Introduction: Familial male-limited precocious puberty (or testotoxicosis) is a very rare genetic disorder with autosomal dominant transmission that causes gonadotropin-independent precocious puberty due to mutations activating the lutropin-chorionic gonadotropin receptor (LHCGR), which lead to elevated testosterone levels and suppressed gonadotropins. The age of onset is between 2-5 years essentially with penis and testes enlargement, linear growth accelerati...

hrp0098p1-48 | Fat, Metabolism and Obesity 1 | ESPE2024

Relationship between serum and faecal zonulin concentration and glucidic metabolism in children and adolescents with obesity

Pepe Giorgia , Corica Domenico , Currò Monica , Abbate Tiziana , Luppino Giovanni , Anna Morabito Letteria , Caccamo Daniela , Aversa Tommaso , Wasniewska Malgorzata

Background: due to the well-known association between intestinal permeability and obesity, zonulin has been recently proposed as an indicator of intestinal mucosal barrier integrity. Nevertheless, data about zonulin are extremely scarce in pediatric age.Objectives: aim of this study was to investigate the relationship between serum and faecal zonulin levels with body mass index (BMI) and biochemical markers of insulin re...

hrp0098p1-166 | Growth and Syndromes 2 | ESPE2024

Growth hormone therapy in patient with overlap syndrome: growth outcome after one year of treatment.

Luppino Giovanni , Franchina Francesca , Lugarà Cecilia , Pepe Giorgia , Anna Morabito Letteria , Aversa Tommaso , Wasniewska Malgorzata , Corica Domenico

Background: SET domain-containing 5 (SETD5) is a member of the protein lysine-methyltransferase family that regulates gene expression. SETD5 gene mutations cause disorders of the epigenetic machinery which determinate phenotypic overlap characterized by several abnormalities. Recently, SEDT5 gene variants have been described in patients with KBG and Cornelia de Lange syndromes. Pathogenic variants of SETD5 gene are primarily associated with intellectual delay ...

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...