hrp0086p2-p664 | Growth P2 | ESPE2016

Case Report of SHOX Gene Haploinsufficiency Diagnosed in Early Infancy

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

Background: SHOX-D is rarely diagnosed in early infancy as cause of short stature.Objective and hypotheses: Describe clinical characteristics of two girls with an early diagnosis of Leri-Weill dyschondrosteosis, admitted to our hospital because of severe short stature.Method: Mutation screening of SHOX and its regulatory regions was performed by MLPA. Family analysis was undertaken.Results: The first 1.3 year...

hrp0082p1-d2-37 | Bone | ESPE2014

Vitamin D Levels and Effects of Vitamin D Replacement in Children with Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Cervical Adenitis (PFAPA) Syndrome

Scalini Perla , Stagi Stagi Stefano , Iurato Chiara , Menchini Camilla , Manoni Cristina , Anzillotti Giulia , de Martino Maurizio , Seminara Salvatore

Background: The periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome, is an autoinflammatory disease characterised by regularly recurrent fever episodes, due to seemingly unprovoked inflammation.Objective and hypotheses: The aim of the study was to assess serum 25-hydroxy cholecalciferol (25(OH)D) concentrations in children with PFAPA and to evaluate longitudinally the effect of wintertime supplementation on 25(OH)D st...

hrp0082p1-d3-194 | Pituitary | ESPE2014

Type 3 Congenital Multiple Pituitary Hormone Deficiency

Radillo Lucia , Fabretto Antonella , Saveanu Alexandru , Demarini Sergio , Tonini Giorgio , Faleschini Elena , Tornese Gianluca , Chiara Pellegrin Maria

Background: G, male, was born at 39 GW by emergency CS from non-consanguineous parents. Prenatal US showed growth at lower limits of normal from 22 GW, short limbs and polyhydramnios. Amniocentesis karyotype was 46,XY. At birth weight and length were <3rd percentile, head circumference was between 10 and 25th percentile. At physical examination: short limbs, short neck, cryptorchidism, and microphallus. Early the baby presented mild respiratory distress and a severe episod...

hrp0082p2-d2-296 | Bone (1) | ESPE2014

Determinants of Vitamin D Levels in Italian Children and Adolescents of Mugello, an Area of Tuscany: a Longitudinal Evaluation

Scalini Perla , Stagi Stefano , Iurato Chiara , Manoni Cristina , Pelosi Paola , Capirchio Laura , de Martino Maurizio , Seminara Salvatore

Background: Few studies have assessed 25-hydroxy vitamin D [25(OH)D] status among Italian children.Objective and hypotheses: To assess 25(OH)D in children and adolescents living in Tuscany, Italy, identifing risk factors for vitamin D deficiency in different age groups.Method: We evaluated 446 children children and adolescents (2.4–17.8 years), from Mugello (latitude 44° N), and we determined 25(OH)D, calcium, alkaline ph...

hrp0082p2-d1-513 | Pituitary | ESPE2014

Polyuria and Polydipsia: The Deep Waters of Diagnosis

Pozzobon Gabriella , Ferrarello Maria Piera , Damia Chiara Maria , Garbetta Gisella , Osimani Sara , Voto Andrea , Partenope Cristina , Pruccoli Giulia , Chiumello Giuseppe

Background: Polyuria and polydipsia must never be underestimated.Objective and hypotheses: A 7-year-old girl presented with polyuria, polydipsia and nocturia of 1 year duration, during which she underwent outpatient follow up with her general practitioner and urologist. No weight loss or other endocrine signs.Method: Polyuria was confirmed by water balance (120 ml/kg per 24 h), urinary osmolality (222 mmol/kg), plasma osmolality (2...

hrp0082p3-d1-909 | Pituitary | ESPE2014

Idiopathic Central Diabetes Insipidus: a Case of Pediatric Xhantogranuloma

Pozzobon Gabriella , Damia Chiara , Voto Andrea , Ferrarello Maria Piera , Garbetta Gisella , Osimani Sara , Pruccoli Giulia , Partenope Cristina , Chiumello Giuseppe

Background: Xhantogranuloma of the sellar region (XG) is a very rare brain tumor and is clinically and pathologically distinct from classical adamantinomatous craniopharyngioma, but the differential diagnosis is difficult because there are no typical neuroradiological signes. The characteristic and the outcome of XG in children remain still unclear.Objective and hypotheses: We aimed to describe a case report of XG and multiple pituitary hormone deficienc...

hrp0084p2-399 | GH &amp; IGF | ESPE2015

Is Retesting in GH Deficient Children Really Useful?

Pagani Sara , Meazza Cristina , Gertosio Chiara , Donati Chaira , Scavuzzo Francesca , Pilotta Alba , Buzi Fabio , Larizza Daniela , Bozzola Mauro

Background: Patients with childhood-onset GH deficiency (GHD) are usually retested in late adolescence or young adulthood, after achievement of final height, to verify whether they need to continue GH treatment. Most of the patients found to have idiopathic GHD when tested as children have normal GH responses when retested in the early or late adolescence. Indeed, the 2007 Consensus guidelines for the diagnosis and treatment of GHD adults recommended that idiopathic GHD patien...

hrp0084p2-401 | GH &amp; IGF | ESPE2015

GRB10 Knockdown in Zebrafish is Associated with Decreased Weight-to-length Ratio without Alterations in AKT and ERK Activity: A Model to Study Human Growth Regulation

De Leonibus Chiara , Broadbent Jack , Murray Philip , Whitehead Joseph , Hurlstone Adam , Shiels Holly , Clayton Peter , Stevens Adam

Background: In humans GRB10 negatively regulates GH and IGF1 signaling predominantly via altering phosphorylation of PI3K/mTOR/AKT and MEK/ERK pathways which relate to both growth and metabolic function. We have previously shown that Grb10 knockdown in Zebrafish results in overgrowth with an increase in length and head size. However the impact on weight in relation to length has not been assessed.Objective: To develop a model t...

hrp0084p2-456 | Growth | ESPE2015

The Effect of Inhaled Glucocorticoid Therapy on Growth Patterns in Pre-Pubertal Children with Asthma Compared to Controls

De Leonibus Chiara , Roze Zane , Attanasi Marina , Marcovecchio Maria Loredana , Di Pillo Sabrina , Chiarelli Francesco , Mohn Angelika

Background: Controversial data exist on the possibility that inhaled glucocorticoids (IGs) affect growth in children with mild-to-moderate asthma. The majority of these studies are short-term reports lacking long-term assessment until the achievement of final height (FH).Objectives: To assess whether IGs affect growth and FH in asthmatic children compared to controls.Methods: 113 asthmatic (57/56 (males/females)) were compared to 6...

hrp0084p3-970 | GH &amp; IGF | ESPE2015

Growth Hormone Therapy in Children: Predictive Factors and Short-Term and Long-Term Response Criteria in an Italian Cohort

Partenope Cristina , Pruccoli Giulia , Damia Chiara Maria , Ferrarello Maria Piera , Garbetta Gisella , Osimani Sara , Weber Giovanna , Pozzobon Gabriella

Background: The correct diagnosis of growth hormone deficiency (GHD) and the definition of growth response in the management of growth hormone (GH)-treated children is controversial.Objective and hypotheses: To evaluate: i) short-term and long-term efficacy of GH treatment; ii) various criteria commonly used to define poor response to GH therapy and compare them in the same cohort of GHD patients.Method: Our study includes 94 child...