hrp0094p2-346 | Pituitary, neuroendocrinology and puberty | ESPE2021

The clinical and biochemical spectrum of pituitary lesions in children compared to adults: experience from a single tertiary center

Galazzi Elena , Carrara Silvia , Soranna Davide , Zambon Antonella , Maria Fatti Letizia , Moro Mirella , Persani Luca ,

We present a monocentric cross-sectional study of 55 children referred between 2000 and 2020 for pituitary lesions, who underwent a complete pituitary function assessment. These data were compared to results obtained in a group of 295 adults carrying pituitary lesions undergoing a complete pituitary screening. Follow-up data was available for 50 children and 248 adults. The mean age at diagnosis in children was 12.2±3.7 years (range 2.1-17.9), while in adults was 48.7&#17...

hrp0092p1-120 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Role of Priming in Peri-Pubertal Growth Delays: Preliminary Results of A Large Multicenter Study

Galazzi Elena , Improda Nicola , Cerbone Manuela , Soranna Davide , Moro Mirella , Fatti Letizia Maria , Zambon Antonella , Salerno Mariacarolina , Dattani Mehul , Persani Luca

Introduction: Peripubertal children with delayed puberty frequently display a poor growth rate prompting endocrine work-up. Whether priming with sex steroids should routinely be performed in these patients to improve specificity of growth hormone stimulation tests (GHST) is unclear. Treatment with sex steroids in constitutional delay of growth and puberty (CDGP) is also debated.Patients and Methods: This multicenter retr...

hrp0092p1-354 | Fat, Metabolism and Obesity (2) | ESPE2019

Association Between Adiposity Measures and Metabolic Variables in Children and Adolescentswith Obesity

Umano Giuseppina Rosaria , Di Sessa Anna , Cirillo Grazia , Ursi Davide , Marzuillo Pierluigi , Miraglia Del Giudice Emanuele

Childhood obesity has become a major health issue in the last decades. Moreover, identifying a simple, feasible, and valid screening tool to select subjects at higher risk for obesity-related comorbidities has become a challenge. Current guidelines reccommend to use BMI percentile for overweight and obesity diagnosis. However, waist-to-height ratio (WHR) has been associated with the risk of metabolic derangement in children and adolescents with overweight and obesity. In addit...

hrp0092p2-208 | Multisystem Endocrine Disorders | ESPE2019

Autoimmune Polyendocrine Sydrome Type I: A Neuroendocrine Multi-Systemic Disease with a Variable Expressivity

Carpino Andrea , Pinon Michele , Montin Davide , Tuli Gerdi , de Sanctis Luisa , Matarazzo Patrizia

Introduction: Autoimmune polyendocrine syndrome type I (APS-1) also called autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare monogenic autosomal recessive disease known by the triad of the major components hypoparathyroidism, primary adrenocortical insufficiency and chronic mucocutaneous candidosis. However, many minor diseases could be present such as other endocrine manifestations (gonadal insufficiency, DM type 1, thyroid dis...

hrp0082p2-d3-356 | Diabetes (2) | ESPE2014

Diabetic Ketoacidosis at the Onset of Type I Diabetes: a Retrospective Study in a Paediatric Population

Tuli Gerdi , Ignaccolo Giovanna Maria , Tinti Davide , Gioia Elisa , Sicignano Sabrina , Cerutti Franco , Rabbone Ivana

Background: There is wide geographic variation in the frequency of diabetic ketoacidosis (DKA) at onset of diabetes from ~15–70% in Europe and North America.Objective and hypotheses: To evaluate the frequency of DKA at the onset of type 1 diabetes (T1D) in the paediatric population seen in the Department of Pediatric Diabetology of Turin (Italy) from 1/1/2008 to 31/12/2013.Method: Data (venous pH and HCO3, season at the onset)...

hrp0082p3-d1-628 | Adrenals & HP Axis | ESPE2014

Familial Glucocorticoid Deficiency: Masked Diagnosis by Hydrocortisone Life-Saving Treatment

Baronio Federico , Marsigli Angelica , Bettocchi Ilaria , Tassinari Davide , Mazzanti Laura , Metherell Louise , Balsamo Antonio

Background: Familial glucocorticoid deficiency (FGD) is a rare and potentially life-threatening disease, characterized by adrenal insufficiency without mineralocorticoid deficiency. It is diagnosed during the neonatal period but also in childhood. Manifestations are recurrent hypoglycemia, seizures or even coma, chronic fatigue, recurrent infections and skin hyperpigmentation. Mutations on mineralocorticoid receptor 2 (MC2R) gene and on melanocortin-2 receptor accesso...

hrp0094p1-172 | Growth Hormone and IGFs B | ESPE2021

Glucagon Testing of Childhood-Onset Growth Hormone Deficiency during Transition

Guglielmi Davide , Napoli Flavia , Allegri Anna Elsa Maria , Patti Giuseppa , Fava Daniela , Crocco Marco , Maghnie Mohamad , Di Iorgi Natascia ,

Objectives: To reassess growth hormone (GH) status by the means of Insulin (ITT) and Glucagon tests (GL) in young adults with childhood-onset GHD.Methods: We present preliminary data of 67 subjects (25F, 42M) recruited from a single Center, in whom anthropometrics, ITT and GL stimulation tests and IGF-1 evaluations were undertaken at adult height achievement, at a mean age of 17.3±2.2 (range: 13.3-25.7). Subjects we...

hrp0094p2-286 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Single nucleotide variations associated with short stature in Baka Pygmies as identified by Whole Exome Sequence (WES)

Bozzola Mauro , Zoccolillo Matteo , Lazarevic Dejan , Cittaro Davide , Manai Federico , Moia Claudia , Wit Jan M , Comincini Sergio ,

Introduction: Human growth is a multifactorial process involving genetic, hormonal, nutritional and environmental factors. Genome-wide association studies (GWAS) have shown that >400 genes are associated with adult height. African Baka Pygmies represent an isolated and well-confined small population with short stature of unknown etiology. In previous studies we reported an 8-fold reduced GH receptor gene expression and reduced serum levels of IGF-I and GHB...

hrp0094p1-159 | Fetal Endocrinology and Multisystem Disorders B | ESPE2021

Clinical features and body mineral density in Italian patients with rapid onset obesity with hypoventilation, hypothalamic dysfunction, autonomic disregulation and neural tumor (ROHHADNET): a single center observational study

Angelelli Alessia , Fava Daniela , Thiabat Hanan F. , Guglielmi Davide , Ceradelli Francesca Lorenzini , Maiorano Nadia Gabriella , Marasini Lucia , Pistorio Angela , Ceccherini Isabella , Napoli Flavia , Iorgi Natascia Di , Maghnie Mohamad ,

Background: ROHHAD (rapid-onset obesity with hypoventilation, hypothalamic dysfunction, autonomic dysregulation) syndrome is a rare and underdiagnosed disease with high mortality rate. When a neural crest tumor (NET) is detected (56% of patients) the acronym used is ROHHADNET.Aim: To analyze the relationship between clinical variables, hypothalamic-pituitary disorders, DXA parameters and neural tumors, in ROHHADNET patie...

hrp0082p1-d3-56 | Bone (1) | ESPE2014

Effect of a Vibration Based Rehabilitation Concept On Bone and Muscle Development in Children with Osteogenesis Imperfecta

Semler Oliver , Hoyer-Kuhn Heike , Stark Christina , Struebing Nora , Goebel Oranna , Schoenau Eckhard

Introduction: Osteogenesis imperfecta is a rare disease leading to immobility by recurrent fractures, hyperlaxicity of ligaments, short stature and muscular weakness. Beside drug treatment and surgical procedures physiotherapy is one of the most important treatment approaches to increase mobility. The objective of our analysis was to evaluate the effect of a new standardized 12 months physiotherapy concept including whole body vibration over 6 months on motor function and bone...