hrp0084p3-631 | Autoimmune | ESPE2015

Oocyte Cryopreservation in a Patient with Premature Ovarian Failure due to Autoimmune Polyendocrine Syndrome Type 2

Balsamo Claudia , Porcu Eleonora , Baronio Federico , Forchielli Luisa , Bazzocchi Antonia , Mazzanti Laura , Cassio Alessandra

Background: Autoimmune polyendocrine syndrome type 2 (APS2) is a complex disorder characterised by the obligatory occurrence of Addison disease in combination with thyroid autoimmune disorder and/or type 1 diabetes. APS 2 is the most common autoimmune polyendocrine syndrome and is primarily manifest in adult age. Premature ovarian failure (POF) is defined as sustained amenorrhea before the age of 40 years, FSH levels higher than 40 UI/l and hypoestrogenism associated with infe...

hrp0084p3-721 | Diabetes | ESPE2015

GAD Antibodies Negative Type 1 Diabetes and Dravet Syndrome

Ciccone Sara , Marini Romana , Fusco Lucia , Terracciano Alessandra , Schiaffini Riccardo , Cappa Marco

Background: An association between type 1 diabetes mellitus (T1DM) and idiopathic generalized epilepsy is reported. Some authors suggest an autoimmune mechanism mediated by antibodies to glutamic-acid-decarboxylase (GAD), that is an enzyme involved in the synthesis of the neurotransmitter GABA. Dravet syndrome (DS) is a rare, severe epilepsy disorder characterized by febrile hemiclonic seizures or generalized status epilepticus starting at 6 months of age. In classical DS, a d...

hrp0084p3-900 | Fat | ESPE2015

Predicting Early Cardiovascular Risk in Obese Children Based on Anthropometry

Cipollone Claudia , Piccorossi Alessandra , Antenucci Annarita , Greco Carla , Lasorella Stefania , Farello Giovanni

Background: Early predictors of cardiovascular risk using anthropometric and laboratory variables available in the general practice in obese children are poorly identified.Objective and hypotheses: To identify best predictors of early cardiovascular risk in obese children between anthropometric and laboratory parameters.Method: Cardiovascular risk was determined by measuring intima-media thickness of the right common carotid artery...

hrp0084p3-1144 | Puberty | ESPE2015

Central Precocious Puberty in Cerebral Palsy

Bruzzi Patrizia , Messina Maria Francesca , Bartoli Alessandra , Lucaccioni Laura , Predieri Barbara , De Luca Filippo , Iughetti Lorenzo

Background: Children affected by cerebral palsy (CP) could experience central precocious puberty (CPP) 20 times more than general population. Nevertheless, the treatment is challenging.Objective and hypotheses: To compare CPP features and the effects of gonadotropin-releasing hormone agonist therapy (GnRHa) in children with CP and in controls.Method: The study involved 16 children with CPP and CP (median age (range) at diagnosis of...

hrp0094fc6.5 | Bone and Mineral Metabolism | ESPE2021

What is the natural history of cervicomedullary compression without signal change in infants with achondroplasia? Investigating foramen magnum stenosis evolution.

Harvey Charlotte , Brett Connor , Cocca Alessandra , D’Arco Felice , Irving Melita , Thompson Dominic , Cheung Moira ,

Background: Foramen magnum stenosis (FMS) is a common, serious complication of achondroplasia in infancy. The Achondroplasia Foramen Magnum Score (AFMS; 1-4) was developed to facilitate early detection of stenosis and inform appropriate neurosurgical management. All infants have a baseline screening MRI, of which approximately half of cases demonstrate AFMS3 (craniovertebral junction (CVJ) narrowing with flattening of the cervical cord) or AFMS4 (CVJ narrowing...

hrp0094p1-153 | Fetal Endocrinology and Multisystem Disorders B | ESPE2021

Different faces of minipuberty in preterm twin girls

Pepe Giorgia , Calafiore Mariarosa , Velletri Maria Rosa , Mondello Isabella , Pomi Alessandra Li , Wasniewska Malgorzata ,

Background: minipuberty (MP) consists in a postnatal activation of hypothalamic-pituitary-gonadal (HPG) axis, which occurs physiologically in both sexes during the first months of life. FSH and LH peak between 1 and 3 months, stimulating sex hormones secretion. In preterm infants, MP might lead to a stronger and more protracted hormonal stimulation, even if specific literature data are limited and not univocal. Immaturity of the hypothalamic feedback has been ...

hrp0097p1-542 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Comparation between syndromic and non-syndromic central precocious puberty: a 10-year experience

Assirelli Valentina , Ortolano Rita , Baronio Federico , Di Natale Valeria , Cantarelli Erika , Bernardini Luca , Cassio Alessandra

Introduction: Central Precocious Puberty (CPP) has recently been described in patients with isolated or syndromic neurodevelopmental disorders, with greater attention from the scientific community. We carried out this study to compare the main aspects of non-isolated and isolated forms of CPP.Methods: We conducted a retrospective monocentric study, collecting all treated cases of CPP from 1st January 2013 to 31 December ...

hrp0098fc12.1 | Thyroid | ESPE2024

Use of targeted Next-Generation Sequencing panel in patients with non-autoimmune hypothyroidism: the experience of an Italian Pediatric Endocrinology Center

Bortolamedi Elisa , Di Natale Valeria , Ortolano Rita , Montanari Giulia , Menabò Soara , Baronio Federico , Cassio Alessandra

Non-autoimmune hypothyroidism is characterized by high serum TSH level, normal or low thyroid hormones, absence of autoantibodies and normal or hypoplasic in situ thyroid gland. It is known that heterozygous mutations in the TSH receptor gene (TSHR) are associated with partial TSH resistance which clinically ranges from isolated hyperthyrotropinemia to non-autoimmune hypothyroidism. Despite this, an absence of mutations in the TSHR gene has been repo...

hrp0098rfc15.6 | Late Breaking | ESPE2024

Macrophage switch and iron metabolism regulation by Burosumab in XLH pediatric patients: implications in inflammation and pain modulation.

Di Paola Alessandra , Palumbo Stefania , Aiello Francesca , Rossi Francesca , Grandone Anna

Background: X-linked hypophosphatemia (XLH) is a rare genetic disorder caused by mutations in PHEX gene and characterized by low phosphate levels and impaired bone mineralization. Burosumab, a monoclonal antibody targeting fibroblast growth factor 23 (FGF23), has emerged as a crucial therapy for XLH management, increasing serum phosphate levels and improving bone health. Recent studies indicate that inflammation may play a crucial role in the XLH complications...

hrp0098p2-310 | Late Breaking | ESPE2024

Hypervitaminosis D-induced hypercalcemia in infants: just a simple intoxication?

Mariani Carlo , Iannuzzi Roberta , Deodati Annalisa , Bizzarri Carla , Terracciano Alessandra , Cianfarani Stefano

Background: Vitamin D-induced hypercalcemia can result from exogenous vitamin D intoxication, excessive endogenous production or mutations in enzymes involved in vitamin D metabolism.Case Report: We describe an 8-month-old infant referred to the emergency department with history of failure to thrive and weight loss over the past two months. He was consuming type 2 formula milk supplemented with vitamin D plus vitamin D a...