hrp0086p1-p24 | Adrenal P1 | ESPE2016

Adrenal Insufficiency in ROHHADNET Syndrome (Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, Autonomic Dysregulation and Neural Tumor)

Tallone Ramona , Napoli Flavia , Di Iorgi Natascia , Allegri Anna , Calcagno Annalisa , Maghnie Mohamad

Background: Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, autonomic dysregulation and Neural tumor (ROHHADNET) is a rare condition. The first symptom is the appearance of rapid onset obesity (2–4 years) followed by central hypoventilation, hypothalamic dysfunction, dysautonomic symptoms and neural tumors.Objective and hypotheses: Aim of this study was to evaluate adrenal function in ROHHADNET patients from a single-center.<...

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...

hrp0092p1-391 | Growth and Syndromes (to include Turner Syndrome) (2) | ESPE2019

Foramen Magnum Stenosis (FMS): Neuroradiological Aspects before and after Cervical Decompression in Paediatric Patients with Achondroplasia (ACH).The 'Achondroplasia Multidisciplinary Gaslini's Group' (AMGG) Istituto Giannina Gaslini, Genova, Italy: Child Neuropsychiatry Unit, Neuroradiology Unit, Department of Paediatrics, Neurosurgery Unit, Orthopedic Unit, Rehabilitation Unit, Pulmonary Disease and Allergy Unit.

Allegri Anna Elsa Maria , Di Iorgi Natascia , Napoli Flavia , Patti Giuseppa , Siri Giulia , Severino Mariasavina , Piatelli Gianluca , Maghnie Mohamad

The identification of anamnestic, clinical and instrumental data indicative of pathological FMS plays a pivotal role in the prevention of ACH complications.Objective: identify key cranio-cervical junction(CCJ)neuroradiological features for the surgical choice and for the neuroradiological decompression outcome.Methods: from a total of 191 patients, we selected 24 subjects with ACH (age:<4years)...

hrp0086p1-p128 | Bone &amp; Mineral Metabolism P1 | ESPE2016

Childhood Cancer Survivors (CCS) are at High Risk of Reduced Bone Mass During the Second Decade of Life

Di Iorgi Natascia , Morsellino Vera , Gallizia Annalisa , Pistorio Angela , Cerone Federica , Tallone Ramona , Haupt Riccardo , Maghnie Mohamad

Background: Childhood cancer survivors (CCS) are at risk for low bone mineral density (BMD).Objective: Aim of our study was to evaluate the prevalence of low BMD and it’s determinants in a single-center cohort of CCS.Method: One-hundred-eighty-five CCS (103M, 84F) diagnosed with liquid-LT-(n=48), solid-ST-(n=88) and brain tumor-BT-(n=51) at the age of 5.3±3.2 years underwent height, BMI (SDS), T...

hrp0084p2-237 | Bone | ESPE2015

Intrauterine Growth Restriction, Gestational Age, Steroidal Prophylaxis and Breastfeeding Influence Bone Mass in Prepubertal Children

Calcagno Annalisa , Pala Giovanna , Allegri Anna Elsa Maria , Napoli Flavia , Fratangeli Nadia , Calevo Maria Grazia , Maghnie Mohamad , Di Iorgi Natascia

Background: The impact of prematurity on skeletal health later in life is not well elucidated.Objective and hypotheses: In order to address this topic we evaluated bone mass in ex-preterm (PT) and born at term (BT) prepubertal children and potential risk factors for bone health.Method: DXA measures of total body less head and lumbar spine mineral density (TB/L1-L4 BMD, g/cm2 and z-score), bone mineral content (T...

hrp0092rfc2.4 | Bone, Growth Plate and Mineral Metabolism Session 1 | ESPE2019

Bone Mass and Fracture Prevalence in Childhood Brain Cancer Survivors 2, 5 or 7 Years After Off Therapy

Gallizia Annalisa , Mauro Vera , Crocco Marco , Elsa Maria Allegri Anna , Napoli Flavia , Luisa Garrè Maria , Maghnie Mohamad , Di Iorgi Natascia

Background and Aim: Multifaceted risk factors impair bone mass (BM) in childhood brain cancer survivors(CBCS). Aims of the study were to evaluate bone mass and it's determinant and fracture prevalence in CBCS 2(G+2), 5(G+5) or 7(G+7) years after off therapy (OT).Methods: Seventy-three(G+2), 87(G+5) and 66(G+7)CBCS were evaluated at 12,9±4,2, 14,9±4,4 and 16,6±4,4yrs, respectivel...

hrp0092p1-97 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Familial Neurohypophyseal Diabetes Insipidus and 2 Novel Vasopressin Gene Mutations in 13 Italian Kindreds.

Patti Giuseppa , Scianguetta Saverio , Balsamo Antonio , Cappa Marco , Corbetta Sabrina , Gaudino Rossella , Iughetti Lorenzo , Salerno Maria Carolina , Napoli Flavia , Peri Alessandro , Maghnie Mohamad , Perrotta Silverio , Di Iorgi Natascia

Background: Autosomal dominant neurohypophyseal diabetes insipidus (adNDI) is characterized by arginine vasopressin (AVP) deficiency resulting from mutations in the AVP-NPII genePatients and Methods: We analyzed AVP-NPII gene in 13 kindreds with familial NDIAim: To describe the clinical and molecular features of Italian kindreds with adNDIResults</str...

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...

hrp0094p2-321 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Alterations in Metabolic profile and Body Composition in children with Silver Russell syndrome

PATTI Giuseppa , Malerba Federica , Schiavone Maurizio , GRAZIA CALEVO MARIA , Casalini Emilio , Fava Daniela , Napoli Flavia , Allegri Anna , Di Iorgi Natascia , Maghnie Mohamad ,

There is little information on metabolic profiles and Body Composition in children with Silver-Russell syndrome (SRS).Methods: 31 SRS patients [16 subjects with 11p15 loss of methylation (11pLOM) and 15 subjects with maternal uniparental disomy of chromosome 7 (mUPD7); mean age 7.4±4.3 years] and non-SRS subjects [34 small for gestational age (SGA), 13.4±2.7 years, and 44 appropriate for gestational age (AGA), 6.9 ± 1.4 ye...

hrp0092rfc12.5 | Growth and Syndromes (to include Turner syndrome) | ESPE2019

Cognitive and Neuroradiological Assessments in Silver Russell Patients

Patti Giuseppa , De Mori Letizia , Tortora Domenico , Savina Severino Maria , Calevo Mariagrazia , Morana Giovanni , Rossi Andrea , Casalini Emilio , Napoli Flavia , Di Iorgi Natascia , Maghnie Mohamad

Silver-Russell syndrome (SRS) is an epigenetic disorder characterized by severe intrauterine and postnatal growth retardation and typical dysmorphic features. The most common genetic abnormalities are 11p15 ICR1 loss of methylation, (11p15 LOM) and maternal uniparental disomy of chromosome 7 (mUPD7). There is little information on cognitive development in SRS patients and no neuroradiological studies are available so far. Global developmental delay and requirement for speech t...