hrp0095p1-73 | Fat, Metabolism and Obesity | ESPE2022

Glucose alterations, insulin resistance, hypertension, and activation of the renin-aldosterone system are strictly associated in pediatric obesity

Antoniotti Valentina , Amore Martina , Bellone Simonetta , Ricotti Roberta , De Grandi Roberta , Caputo Marina , Spadaccini Daniele , Mancioppi Valentina , Aimaretti Gianluca , Prodam Flavia

Background: The increase of global childhood obesity has led to an increase of associated co-morbidities also at a young age. The pro-inflammatory state and insulin resistance are two master regulators of several complications, including hypertension and pre-diabetes frequently connected in a complex crosstalk.Aim: To evaluate the relationship between glucose alterations and blood pressure and the pathogenetic involvemen...

hrp0095p1-76 | Fat, Metabolism and Obesity | ESPE2022

Omentin-1, vaspin, peptide YY and oxyntomodulin levels in cord blood newborns and correlation with anthropometric parameters

Mancioppi Valentina , Antoniotti Valentina , Ricotti Roberta , Solito Arianna , Rabbone Ivana , Prodam Flavia , Bellone Simonetta

Background: The gastrointestinal (GI) tract plays a central role in maintaining energy balance and body weight regulation. These functions are mediated by the secretion of gut hormones, including ghrelin, cholecystokinin (CCK), peptide YY(PYY), oxyntomodulin (OXM) and many other hormones. Some of them are orexigenic hormones that promote food intake, while others act as satiety signals and enhance insulin secretion from the pancreatic beta cells. Current evide...

hrp0092p3-144 | GH and IGFs | ESPE2019

A Case of Paediatric GH-secreting Pituitary Adenoma Apoplexy

Partenope Cristina , Gallo Dario , Pitea Marco , Pajno Roberta , Weber Giovanna , Barera Graziano , Cinzia Pozzobon Gabriella

Background: Paediatric pituitary adenomas comprise rare but challenging pathologies in children and adolescents related to their endocrine and neurological characteristics.Objective and Hypotheses: We aimed to describe a case report of growth hormone (GH)-secreting pituitary adenoma apoplexy.Method: a 11-year-old girl presented with fever, sudden headache with vomiting. She abruptl...

hrp0092p3-205 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Childhood Craniopharyngioma: A Single Centre Experience

Gallo Dario , Partenope Cristina , Pajno Roberta , Pitea Marco , Weber Giovanna , Barera Graziano , Pozzobon Gabriella Cinzia

Backround: Craniopharingiomas are rare embryogenic malformations of the sellar and parasellar region with slow growth and high local recurrence rate. Due to their unfavorauble location, presurgical hypothalamic involvement and treatment-related hypothalamic damage is frequent and lead to hypothalamic syndrome.Objective: we compare weigh gain and growth pattern regarding to hypothalamic involvement of pediatric patients a...

hrp0089p2-p259 | Growth & Syndromes P2 | ESPE2018

Unusual Case of Combination of Beckwith-Wiedemann Syndrome and SHOX Gene Deficiency

Cassano Gilda , Osimani Sara , Pajno Roberta , Pitea Marco , Partenope Cristina , Russo Silvia , Pozzobon Gabriella

Background: Beckwith-Wiedemann Syndrome (BWS) is an overgrowth disorder involving a predisposition to tumor development, etiologically connected with genetic/epigenetic dysregulation. The main features of BWS include omphalocele, macroglossia and macrosomia; however there is significant clinical heterogeneity. SHOX mutation is a frequent cause of short stature with high penetrance, but extremely variable clinical expression. The mean adult height is -2.2 SDS. The presence of m...

hrp0084p2-178 | Adrenals | ESPE2015

Genotypic Heterogeneity and Clinical Phenotype in Two Patients with Triple A Syndrome (AAAS)

Meloni Antonella , Casini Maria Rosaria , Mazzitti Roberta , Congia Riccardo , Rosatelli Maria Cristina , Bonomi Marco

Background: AAAS is an autosomal recessive disorder characterized by adrenal insufficiency, alacrimia, achalasia and neurological symptoms. The disease-causing AAAS gene encodes for the ALADIN nuclear pore protein.Case presentation: Case 1: A girl (born to unrelated parents) presented at age 3.9 years with fatigue and hyperpigmented skin. Clinical examination was normal, clumsy gait was noted. Endocrine studies confirmed adrenal insufficiency (F=9 mg/ml,...

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...

hrp0097s12.2 | What's new for the HPG Axis | ESPE2023

SEMA6A drives GnRH neuron-dependent puberty onset by tuning median eminence vascular permeability

Cariboni Anna , Oleari Roberto , Lettieri Antonella , van den Munkhof Marleen , van Battum Eljo , Tacconi Carlotta , Spreafico Marco , Paganoni Alyssa , Amoruso Federica , Eberini Ivano , Dunkel Leonard , Fantin Alessandro , Howard Sasha , Pasterkamp Jeroen

Innervation of the hypothalamic median eminence by Gonadotropin-Releasing Hormone (GnRH) neurons is vital to ensure puberty onset and successful reproduction. However, the molecular and cellular mechanisms underlying median eminence development and pubertal timing are incompletely understood. Here we show that Semaphorin-6A is strongly expressed by median eminence-resident oligodendrocytes positioned adjacent to GnRH neuron projections and fenestrated capillaries, and that Sem...

hrp0089p3-p293 | Pituitary, Neuroendocrinology and Puberty P3 | ESPE2018

Two Identical Twins … But not in Everything. A Difficult Diagnosis

Damia Chiara Maria , Gallo Dario , Partenope Cristina , Pitea Marco , Fioretti Lorenzo , Adavastro Marta , Pajno Roberta , Weber Giovanna , Barera Graziano

GR and GT are diamniotic monochorial preterm twins (32 GA), both AGA (GR: W -1 SDS, L -1.5 SDS; GT: W and L 0 SDS), with normal karyotype and array-CGH on amniotic fluid, with no major complications associated to prematurity. At birth GT presented bilaterally cryptorchidism associated with micropenis, GR presented normal male genitalia. In the first year of life a severe growth deceleration in length (from -3SDS to -5 SDS) was observed, mainly after six months of life in both ...

hrp0086p2-p648 | Growth P2 | ESPE2016

Congenital Hypopituitarism: Genotypic–Phenotypic–Neuroradiological Correlation

Pozzobon Gabriella Cinzia , Partenope Cristina , Gallo Dario , Damia Chiara , Lezzi Marilea , Pajno Roberta , Marinella Gemma , Osimani Sara , Weber Giovanna

Background: Congenital hypopituitarism is a rare cause of pituitary insufficiency (incidence: 12–42 new cases/million per year; prevalence: 300–455 cases/million). The aetiology remains largely unclear: the most frequently correlated genetic abnormalities are those involving transcription factors implicated in pituitary organogenesis. The phenotype and neuroradiological findings associated with the underlying genotype may be highly variable (from an isolated hypopitu...