hrp0082p1-d1-59 | Diabetes | ESPE2014

A Randomized, Crossover Pilot Study Comparing Glycemic Control and Satisfaction with an Indwelling Catheter (I-PORT Advance) for Insulin Administration in Children and Adolescents with Type 1 Diabetes on Basal-Bolus Treatment

Maltoni Giulio , Martini Anna Lisa , Rollo Alessandra , Perri Annamaria , Zucchini Stefano

Background: Intensive insulin treatment allows a good metabolic control and prevents long-term complications. Basal-bolus regimen is the best treatment for children with type 1 diabetes T1D but requires several insulin injections a day. The needle-fear and discomfort felt by the child and parents/caregivers for insulin administration is one of the main obstacle to good compliance.Objective and hypotheses: To compare glycemic control and satisfaction with...

hrp0084p2-417 | GH & IGF | ESPE2015

GH Therapy in Skeletal Dysplasias: Final Height Data

Scarano Emanuela , Procopio Matteo , Tamburrino Federica , Perri Annamaria , Bettocchi Ilaria , Vestrucci Benedetta , Rollo Alessandra , Balsamo Antonio , Mazzanti Laura

Background: Skeletal dysplasias are characterised by bone-cartilage involvement and impairment of growth and body proportions. Reports of the benefits of GH treatment are difficult to evaluate for the small number of subjects, short period of treatment, few final height (FH) data in groups with and without GH deficiency (GHD).Objective and hypotheses: The aim of our study was to assess FH and body proportions in pts with skeletal dysplasia and GHD.<p...

hrp0082p2-d2-430 | Growth Hormone (1) | ESPE2014

A Reappraisal of the Cut-Off Limits of the Peak GH Response to Stimulation Tests for the Diagnosis of GH Deficiency in Children and Adolescents

Guzzetti Chiara , Ibba Anastasia , Pilia Sabrina , Beltrami Nadia , Di Iorgi Natascia , Rollo Alessandra , Radetti Giorgio , Zucchini Stefano , Maghnie Mohamed , Cappa Marco , Loche Sandro

Background: The diagnosis of GH deficiency (GHD) in children and adolescents is classically established when GH concentrations fail to reach an arbitrary cut-off level (usually 7–10 μg/l) after at least two provocative tests (PT).Objective and hypotheses: Aim of the study was to define optimal GH cut-offs to different PT in children and adolescent with short stature.Method: This was a retrospective study in 437 subjects w...

hrp0082p3-d2-640 | Adrenals &amp; HP Axis (1) | ESPE2014

Therapeutic Troubles of Cushing’s Disease in Adolescence: Report of a Case

Deiana Manuela , Losa Marco , Trettene Adolfo , Scolari Alessandra , Salvatoni Alessandro

Background: Cushing’s disease, due to ACTH-secreting pituitary adenomas, is rare in the pediatric age (0.2–0.5/ million people per year), although accounts for 75–80% of Cushing syndrome in childhood compared to 49–71% in adulthood. We report clinical presentation, diagnostic workup and treatment of a new case with major therapeutics problems.Case report: A 15-year-old girl was referred to our clinic because of secondary amenorrhea, a...

hrp0086p2-p786 | Pituitary and Neuroendocrinology P2 | ESPE2016

Association between Congenital Hypopituitarism and Agenesis of the Internal Carotid Artery: A Case Report

Cocca Alessandra , Carney Olivia , Hulse Tony

Background: The abnormalities of the Internal Carotid Artery (ICA) are very rare phenomenona and the agenesis, in particular, has an estimated incidence of 0,01% among the general population. It could also be associated with another rare condition: the congenital hypopituitarism.Objective and hypotheses: To describe a very rare case characterized by the association between congenital hypopituitarism and abnormalities of the internal carotid artery.<p...

hrp0094p2-209 | Fat, metabolism and obesity | ESPE2021

A novel homozygous variant of the leptin receptor (LEPR) gene causing familiar early-onset severe obesity in two siblings

Molinari Silvia , Ceccarini Giovanni , Masera Nicoletta , Spano Alice , Maitz Silvia , Fossati Chiara , Lazzerotti Alessandra , Santini Ferruccio , Cattoni Alessandro ,

Introduction: The leptin-melanocortin pathway is a well-studied pivotal player of body weight regulation and energy homeostasis. Pathogenic mutations of the genes involved in this pathway may result in early-onset severe obesity (ESO).Case Report: We hereby report the case of a 14-year-old girl who was referred to our pediatric outpatient clinic for the evaluation of ESO. Her parents were non-obese first cousins born in Morocco. At the t...

hrp0092t19 | Top 20 Poster | ESPE2019

Urinary Gonadotrophins in Girls with Turner Syndrome

Boncompagni Alessandra , McNeilly Jane , Murtaza Mohammed , Iughetti Lorenzo , Mason Avril

Background: Girls with Turner Syndrome (TS) are at an increased risk of primary ovarian failure. Oestrogen replacement is commenced at around the age of 12 years, in girls who do not enter puberty spontaneously, with incremental changes to the dose over the next 3 years until adult replacement doses are achieved. We have previously shown good correlation between serum and urinary LH (uLH) and FSH (uFSH) in children being assessed for disorders of puberty.<...

hrp0092p1-79 | GH and IGFs | ESPE2019

The experience of Pain in Children with Growth Hormone Deficiency and Psychosocial Correlates: Preliminary Data from a Longitudinal Prospective Study

Bettini Alessandra , Teodori Caterina , Maffei Francesca , Ciofi Daniele , Stagi Stefano

Background: Pain represents one of the most stressful experiences for children undergoing medical therapies (Kortesluoma, 2008), but is under represented in literature for what concerns pediatric endocrinology. Children consider Injections one of the most painful, frighteningand distressing procedures (Fassler, 1985). The treatment for patients with Growth Hormone Deficiency requires daily subcutaneous injection, performed by parents or patients themselves. Th...

hrp0092p1-247 | Multisystem Endocrine Disorders | ESPE2019

One AIRE Gene Mutation and Two Different Clinical Manifestations in a Couple of Brothers

Timpanaro Tiziana , Bizzarri Carla , Sauna Alessandra , Caruso-Nicoletti Manuela

Autoimmune polyglandular syndrome type 1 (APS-1) is also known as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED). Clinical manifestations are widely variable. It is an autoimmune disease which is characterized by the triad hypoparathyroidism, Addison disease, and chronic mucocutaneous candidiasis. However, several other autoimmune disorders, not necessarily endocrinological, differing in number and severity, may be present. APS1 is mostly caused by mut...

hrp0092p1-293 | Thyroid (1) | ESPE2019

Genetic Susceptibility to Hashimito's Thyroiditis in Children: Analysis of Polymorphisms rs7093069 – IL2RA, rs5742909 – CTLA 4, rs7138803 – FAIM2

Goralczyk Aleksandra

Background: Hashimito's Thyroiditis is influenced by genetic and environmental factors. Interleukin-2 receptor alpha chain (IL2RA) gene polymorphism and Cytotoxic T-lymphocyte antigen 4 (CTLA 4) gene polymorphism are known to be associated with HT, but have not been established in a Caucasian children population yet. The Fas Apoptotic Inhibitory Molecule 2 (FAIM2) gene polymorphisms impact on the development of HT in children has not been reported yet....