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...

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...

hrp0086p2-p657 | Growth P2 | ESPE2016

Septo-Optic Dysplasia and Excellent Growth with Low Growth Hormone Dose: Our Experience

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

Background: Septo-optic dysplasia (SOD) is a congenital, rare anomaly (1:10 000) associated with optic nerve hypoplasia, midline brain abnormalities and pituitary hormone abnormalities. Genetic alterations associated are: HESX1, SOX2 and SOX3. SOD’s pattern of growth even without GH treatment has been reported to be often good.Objective and hypotheses: Evaluate SOD’s growth in patients followed in our Centre.Method: See F...

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...

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...

hrp0084p3-970 | GH & 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...

hrp0084p3-979 | GH & IGF | ESPE2015

The Assessment of Quality of Life and New Technologies for Therapeutic Monitoring in a Cohort of Paediatric Patients Treated with GH

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

Background: Short stature may represent a significant psychosocial problem. The rationale for GH treatment has traditionally rested upon the clinical improvement in terms of growth and well-being. Great importance is also associated with the adherence to the therapy.Objective and hypotheses: We have investigated the benefits obtained by GH treatment, the factors that positively influence growth, the differences between ‘objective’ and ‘sub...

hrp0082p3-d2-828 | Growth (1) | ESPE2014

Growth Response After 1 Year of GH Treatment in Children Born Small for Gestational (SGA) Without GH Deficiency: our Experience

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

Background: Many studies have shown that GH therapy can increase final height in children born SGA. Adult height and growth velocity can be improved in these subjects even if there is not a deficiency of endogenous GH (GHD).Objective and hypotheses: We aimed to analyze growth response after 1 year of GH treatment in children born SGA without GH deficiency.Method: Ten patients (six M, four F) born SGA (according to Gagliardi et ...

hrp0094p2-172 | Fat, metabolism and obesity | ESPE2021

Metabolic syndrome and birth anthropometric data in Prader-Willi syndrome.

Salvatoni Alessandro , Agosti Massimo , Azzolini Sara , Bonaita Valentina , Crino Antonino , Delvecchio Maurizio , Augusta Greggio Nella , Iughetti Lorenzo , Madeo Simona F , Nosetti Luana , Osimani Sara , Paino Roberta , Rutigliano Irene , Sacco Michele , Salvatore Silvia , Sartorio Alessandro , Grugni Graziano ,

Introduction: Previous studies showed that non-obese children and adults with Prader-Willi syndrome (PWS) have a low frequency of metabolic syndrome (MetS), while obese ones have a frequency similar to that of non-PWS obese. It is known that individuals born small for gestational age (SGA) have a greater predisposition to the development of MetS. Recent neonatal percentiles of subjects with PWS (Salvatoni et al, Am J Med Genet Part A, 2019) documented...