hrp0094p1-35 | Fat, Metabolism and Obesity A | ESPE2021

The possible association of the apoptotic marker APO1/Fas with predisposition to metabolic syndrome and mean platelet volume in children

Kostopoulou Eirini , Katsa Maria Efthymia , Magana Maria , Ioannidis Anastasios , Chatzipanagiotou Stylianos , Sachlas Athanasios , Spiliotis Bessie , Rojas Gil Andrea Paola ,

Objective: To investigate the possible relationship between APO1/Fas, components of metabolic syndrome and Mean Platelet Volume (MPV) in a healthy pediatric population.Study design: 185 children, aged 5-17 years old, were enrolled to the study. The participants were divided intο subgroups according to age and body mass index percentile (BMI%). APO1/Fas was measured by ELISA and MPV by the MEK-6410K.Re...

hrp0094p1-92 | Thyroid A | ESPE2021

Emotional Intelligence scores in children and adolescents with subclinical hypothyroidism - correlation with serum serotonin and thyroid stimulating hormone (TSH) concentrations.

Kostopoulou Eirini , Arianas George , Ioannidis Anastasios , Dimopoulos Ioannis , Chiotis Christos , Prezerakos Panagiotis , Spiliotis Bessie , Rojas Gil Andrea Paola ,

Introduction: Thyroxine is important for nervous system development. Subclinical hypothyroidism (SCH), a mild thyroid dysfunction, is associated with impaired cognitive function in children and mood disorders in adults. Serotonin is also involved in brain development, mood and behavior modulation. The possible interaction between thyroid function tests, serum serotonin concentrations and emotional intelligence, was studied.Method...

hrp0094p2-72 | Bone, growth plate and mineral metabolism | ESPE2021

ACAN gene skeletal dysplasia (short size syndrome, with or without advanced bone age and early onset osteoarthritis)

Aguilar Riera Cristina , Arciniegas Larry , Murillo Valles Marta , Ros Pena Andrea , Alvarez Paula Fernandez , Clemente Maria , Yeste Diego ,

Aggrecan is a structural glycoprotein of the extracellular matrix of cartilage present in the articular cartilage, growth plate and cartilage of the intervertebral disc. Biallelic pathogenic variants are the cause of aggrecan type spondyloepiphyseal dysplasia (OMIM#612813) while the presence of heterozygous pathogenic variants determine Kimberley type spondyloepiphyseal dysplasia (OMIM#608361) and short stature associated or not with acceleration of bone maturation and early o...

hrp0094p2-208 | Fat, metabolism and obesity | ESPE2021

OSAS in childhood obesity is a more frequent and earlier complication than expected

Deiana Giuseppina , Maltoni Giulio , Zucchini Stefano , Gallucci Marcella , Levi della Vida Francesca , Barberi Carolina , Pession Andrea , Cassio Alessandra ,

Introduction: Childhood obesity is associated with several complications, involving many systems. The prevalence of respiratory problems, such as obstructive sleep apnea syndrome (OSAS), is higher in obese children and adolescents. In fact, OSAS affects 13–59% of obese children and the severity is strongly associated with weight excess. Although overnight pulse oximetry (PO) can be used for diagnosing OSAS, a complete night polysomnography (PSG), which re...

hrp0097p1-192 | Thyroid | ESPE2023

Remission in pediatric hyperthyroidism treated with methimazole

Ricci Jaime , Castro Bethania , Sabino Franco , Fasano Victoria , Tournier Andrea , Balbi Viviana , González Verónica , Morin Analía

Introduction: Hyperthyroidism (HT) is a condition characterized by inappropriately high thyroid hormone (TH) activity at receptor level, due to high synthesis and secretion of TH by thyroid gland. Antithyroid drugs as methimazole (MMI) are used as the first-line therapy in children. However, the optimal treatment duration and the predictive remission factors are still controversial.Objective: To investigate outcome of MM...

hrp0098s12.1 | The impact of gonadotrophin dysregulation on neurocognition | ESPE2024

The Role of MiniPuberty in Non-Reproductive Outcomes

Chachlaki Konstantina , Messina Andrea , Delli Virginia , Dehame Julien , Leysen Valerie , Storme Laurent , Carleton Alan , Santoni Federico , Pitteloud Nelly , Prevot Vincent

Minipuberty, a transient activation of the hypothalamic-pituitary-gonadal (HPG) axis during early infancy, plays a critical role beyond reproductive development. Recent evidence suggests that minipuberty, in addition to facilitating the process by which the capacity for sexual reproduction is achieved and maintained, may also influence neurodevelopmental programming and the maintenance of sensory (e.g., olfaction and hearing) and cognitive performance throughout life. During m...

hrp0098p1-59 | GH and IGFs 1 | ESPE2024

Near adult height in prepubertal children treated with growth hormone: differences between definite growth hormone deficiency (dGHD), short stature unresponsive to stimulation tests (SUS) and idiopathic short stature (ISS)

Tamaro Gianluca , Andrea Lanzetta Maria , Ove Carlsson Martin , La Torre Daria , Stefano Tresoldi Alberto , Bruschini Pietro , Tornese Gianluca

Objective: To understand whether characterization into definite growth hormone deficiency (dGHD; peak GH <8 ug/L and identifiable genetic, functional or anatomical cause), short stature unresponsive to stimulation test (SUS; peak GH <8 ug/L but without any identifiable cause) or idiopathic short stature (ISS; peak GH ≥8) can predict the near adult height (NAH) of prepubertal children treated with recombinant human growth hormone (rhGH).<p class="a...

hrp0098p1-105 | Thyroid 1 | ESPE2024

Presentation and outcome of ATA-Pediatric low-risk differentiated thyroid carcinoma (PLR-DTC) with high-invasive molecular alterations

Papendieck Patricia , Eugenia Masnat Maria , Boycho Marisa , Colli Sandra , Victoria Preciado Maria , Lorenzetti Mario , Arcari Andrea , Chiesa Ana

PLR-DTC patients defined as having a tumor grossly confined to the thyroid with minimal or no central lymph nodes comprises 40% of all pediatric DTC followed-up in our center. High-invasive molecular alterations (HIMA) have been reported recently in around 57% of these patients with a still not clear explanation on their influence in outcome.Objective: To report the characterization of a small group of PLR-DTC patients who were positive ...

hrp0098p1-113 | Adrenals and HPA Axis 2 | ESPE2024

A novel genetic variant in sphingosine-1-phosphate lyase causing primary adrenal insufficiency and inborn error of immunity

Elisa Amodeo Maria , Profeti Elisa , Rivalta Beatrice , Deodati Annalisa , Agolini Emanuele , Finocchi Andrea , Cotugno Nicola , Palma Paolo , Cianfarani Stefano

Background: Multiple autosomal recessive genes have been linked to primary adrenal insufficiency (PAI). Recently, sphingosine-1-phosphate lyase 1 (SGPL1) gene mutations were recognized as a cause of sphingolipidosis with multisystemic manifestations, including PAI. Sphingosine phosphate lyase (SGPL1) insufficiency syndrome (SPLIS) is characterized by steroid-resistant nephrotic syndrome, primary adrenal insufficiency (PAI), neurological deterioration, immunode...

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...