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...

hrp0086p2-p714 | Endocrinology and Multisystemic Diseases P2 | ESPE2016

Autoimmune Hypoparathyroidism and Celiac Disease: A Rare Paediatric Association Outside an Autoimmune Polyglandular Syndrome

Gallo Francesco , Simeone Giovanni , Conte Pietro , La Torre Francesco , Moramarco Fulvio

Background: The association between primary hypoparathyroidism and celiac disease (CD) is uncommon in paediatrics, even more if they are not part of an autoimmune polyglandular syndrome (APS, almost exclusively type II). We describe a case of autoimmune hypoparathyroidism coexisting with celiac malabsorption.Objective and hypotheses: Valentina was a 7 year old female child when she was admitted in hospital because she had generalized seizures at home. Sh...

hrp0082p1-d1-112 | Fat Metabolism &amp; Obesity | ESPE2014

Mir-146a and -155 are Involved in FOXO1 Regulation and Non Alcoholic Fatty Liver Disease in Childhood Obesity

Montanini Luisa , Lazzeroni Pietro , Sartori Chiara , Nobili Valerio , Crafa Pellegrino , Bernasconi Sergio , Street Maria E

Background: Non alcoholic fatty liver disease (NAFLD) is the most common chronic liver disease in childhood, in obese subjects and associated with insulin resistance.FOXO1 is a key regulator in insulin signalling and in intracellular adipogenesis, and is implicated in liver steatosis. We have previously identified that a group of miRNAs are involved in its epigenetic regulation.Objective and hypotheses: We aimed to assess in liver tissue and in serum whe...

hrp0082p1-d1-242 | Thyroid | ESPE2014

Congenital Hypothyroidism and Tuberous Sclerosis: an Association or a Coincidence?

Gallo Francesco , Conte Pietro , Alfano Rosa Maria , Bulfamante Gaetano , Moramarco Fulvio

Background: Tuberous sclerosis (TS) is a polymorphic, dominantly inherited syndrome caused by an inactivating mutation in tumor suppressor genes, TSC1 or TSC2; they regulate mammalian target of rapamycin (mTOR), a key player in control of cellular growth and protein synthesis. The disease involves benign tumors in several distinct organs (such as the skin, kidneys, heart, and CNS), that can interfere with organ function. Rarely TS is associated with endocrine abnormalities, an...

hrp0084p3-646 | Bone | ESPE2015

Diagnosis and Management of Gorham-Stout Disease: A Protocol Proposal

Iorgi Natascia Di , Godano Elisabetta , Mascio Alberto Di , Vercellino Nadia , Napoli Flavia , Dalmonte Pietro , Maghnie Mohamad

Background: Gorham-Stout syndrome (GSD) is a rare disorder characterized by lymphangiomatosis, osteolysis and potentially lethal in the presence of chilothorax.Objective and hypotheses: As the management of GSD is not univocal and outcomes are unpredictable we build a multifaced protocol in order to study its natural history, biomarkers of bone disease and to treat uniformly patients.Method: Seven patients (five males, two females,...

hrp0084p3-695 | Diabetes | ESPE2015

Intraosseous Infusion: Sometimes the Only Way to Treat Severe Diabetic Ketoacidosis

Gallo Francesco , Conte Pietro , La Torre Francesco , Calo Maria Alba , Moramarco Fulvio

Background: The diabetic ketoacidosis (DKA) represents one of the most frequent causes of death in childhood. The first therapeutic step is a quick rehydration, whereby a venous access must be ensured in every child with DKA, in order to infuse liquids immediately. The children conditions (state of shock, obesity) can make access extremely difficult. We present two cases of patients with severe DKA, where finding a venous access was almost impossible.Cli...

hrp0097p1-52 | Fat, Metabolism and Obesity | ESPE2023

Effects of Relaxation of COVID-19 restriction measurements on glucose and insulin metabolism in overweight and obesity youth

Matonti Lorena , Trisi Giulia , Mastromauro Concetta , Di Pietro Giada , Chiarelli Francesco , Giannini Cosimo , Mohn Angelika

Background: COVID-19 restriction measurements have determined profound alterations in glucose and insulin metabolism in children with overweight and obesity. However, to date few data have explored the effects of the relaxation of restrictions in the pediatric population. Thus, we compared anthropometric and OGTT data in children with overweight and obesity during the two years after (2021-2023) compared to the two years during (2020-2021) and before (2018-201...

hrp0082p1-d1-241 | Thyroid | ESPE2014

Twin Couples and/or Triplets Discordant for Congenital Hypothyroidism at Birth: the Importance of the Re-screening at 2–4 Weeks of Life

Olivieri Antonella , Medda Emanuela , Cassio Alessandra , Weber Giovanna , Costa Pietro , Calaciura Francesca , Vigone Maria Cristina , Russo Valentina Di , Fazzini Cristina

Background: A high risk of congenital hypothyroidism (CH) has been documented in multiple pregnancies. Over the years special screening procedures for preterm and twin babies (re-screening at 2–4 weeks of life) have been adopted by many screening laboratories worldwide. However, no extensive studies have been performed to verify how many co-twins with negative test at first screening (3–5 days of life) become positive at re-screening, and the utility of a long-term f...

hrp0084p2-422 | GH &amp; IGF | ESPE2015

Physical Performance and Right Ventricular Function in Children with GH Deficiency before and after 12 Months-GH Replacement Therapy

Barbieri Flavia , Capalbo Donatella , Lucci Rosa , Vitelli Alessandra , Esposito Andrea , Di Pietro Elisa , Rapacciuolo Antonio , Vigorito Carlo , Salerno Mariacarolina

Background: Several metabolic abnormalities, including unfavourable lipid profile, impaired cardiac performance, muscle strength and endurance capacity have been documented in GH Deficiency (GHD) adults. Alterations in cardiac morphology and left ventricular function and early markers of cardiovascular risk have been also detected in GHD children; however, no studies have so far investigated the effects of GHD on physical performance and right ventricular (RV) function in chil...

hrp0092fc3.2 | Multi-system Endocrine Disorders | ESPE2019

CFTR Loss-of-Function has Effects on microRNAs (miRNAs) that Regulate Genes Involved in Growth, Glucose Metabolism and in Fertility in in vitro Models of Cystic Fibrosis

Cirillo Francesca , Catellani Cecilia , Graziano Sara , Montanini Luisa , Smerieri Arianna , Lazzeroni Pietro , Sartori Chiara , Marmiroli Nelson , Amarri Sergio , Gullì Mariolina , Elisabeth Street Maria

Cystic Fibrosis (CF), is due to CF-transmembrane-conductance-regulator (CFTR) loss-of-function. Significant heterogeneity exists between patients, suggesting potential epigenetic regulation, and comorbidities develop with time. MiRNAs are non-coding RNAs that act as epigenetic regulators. Although many studies have focused on the role for miRNAs in regulating CFTR gene expression, little attention has been given to how CFTR influences their expression and how this affects grow...