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.<...

hrp0084p1-53 | Diabetes | ESPE2015

Perypheral Neuroblastic Tumours and Immunological Studies in ROHHADNET Syndrome (Rapid-Onset Obesity With Hypothalamic Dysfunction, Hypoventilation, Autonomic Dysregulation and NEural Tumour)

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

Background: ROHHADNET syndrome affects children with normal development until 2–4 years. A paraneoplastic/autoimmune etiology has been suggested because of the association with neural crest tumours.Objective and hypotheses: Aim of this study was to describe the phenotype of ROHHADNET patients, and to evaluate a possible role of autoimmunity in this disorder. In spite of a suspicion for genetic etiology, disease-associated genetic variations have not...

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)...

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...

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...

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...

hrp0092p1-252 | Pituitary, Neuroendocrinology and Puberty (1) | ESPE2019

Brain Malformations and Sellar Spine as Possible Causes of Central Precocious Puberty in a Large Monocentric Study

Fava Daniela , Calandrino Andrea , Morana Giovanni , Gastaldi Roberto , Allegri Anna Elsa Maria , Napoli Flavia , Roviglione Barbara , Di Iorgi Natascia , Maghnie Mohamad

Background: Central precocious puberty (CPP) is defined as the secondary sexual characteristics onset before 8 years of age in females and before 9 in males, due to premature activation of the hypothalamic-pituitary-gonadal axis. The underlying cause remains idiopathic in the great majority; based on the 2009 Consensus, 2% to 7% of girls who have onset of CPP between the ages of 6 and 8 years have unsuspected pathology and only 1% have a tumor such...

hrp0089p1-p025 | Bone, Growth Plate &amp; Mineral Metabolism P1 | ESPE2018

Intrauterine Growth Restriction, Antenatal Steroids, Gestational Age and Breast Feeding Influence Bone Health in Prepubertal Children Born Preterm

Iorgi Natascia Di , Calcagno Annalisa , Diana Paola , Notarnicola Sara , Allegri Anna Maria Elsa , Napoli Flavia , Cangemi Giuliana , Calevo Mariagrazia , Ramenghi Luca , Maghnie Mohamad

Objectives: To assess the long-term impact of prematurity on bone and body composition by using Dual-energy X-ray absorptiometry (DXA).Methods: DXA scans were performed in 100 preterm (PT) (n=42F, n=58M, mean weeks’gestation 31.5±2.6; range 26−36) and 51 born at term (BT) healthy infants (n=28F, n=23M). DXA measures of total body and lumbar spine mineral density (TB/L1-L4 BMD, g/cm2 and Z...

hrp0089p2-p228 | GH &amp; IGFs P2 | ESPE2018

Reliability of Clonidine Testing for the Diagnosis of Growth Hormone Deficiency in Children and Adolescents

Ibba Anastasia , Guzzetti Chiara , Casula Letizia , Salerno Mariacarolina , Di Iorgi Natascia , Maria Elsa Allegri Anna , Cappa Marco , Maghnie Mohamad , Loche Sandro

Introduction: The diagnosis of growth hormone deficiency (GHD) is currently based on clinical, auxological, biochemical, and neuro-radiological investigation. Provocative tests of GH secretion using physiological/pharmacological stimuli are required to confirm GHD. The clonidine test (CT) is widely used to assess GH secretory status. In this retrospective study we analyzed the reliability of CT and the effect of puberty in a large number of children with short stature who had ...

hrp0082p1-d2-33 | Autoimmune Endocrine Disease | ESPE2014

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

Napoli Flavia , Calcagno Annalisa , Lorgi Natascia di , Allegri Anna Elsa Maria , Vannati Marianna , de Miglio Laura , Biancheri Roberta , Ceccherini Isabella , Hacohen Yael , Jacobson Leslie , Vincent Angela , Maghnie Mohamad

Background: ROHHADNET syndrome affects children with normal development until 2–4 years of age.Objective and hypotheses: Aim of this study was to evaluate a possible role of autoimmunity in this disorder. In spite of a suspicion for genetic etiology, disease-associated genetic variations have not been identified. A paraneoplastic/autoimmune etiology has been suggested mainly because of the association with neural crest tumors....