hrp0095rfc3.4 | Early Life and Multisystem Endocrinology | ESPE2022

Immunophenotype and proinflammatory cytokines in ROHHAD(NET) patients compared to age- and sex-matched obese patients

Angelelli Alessia , Morandi Fabio , Prigione Ignazia , Fava Daniela , Napoli Flavia , Maghnie Mohamad

Background: ROHHAD(NET) syndrome has been proposed as an acquired neuroimmunological dysfunction. Aim of the study is to compare the phenotype of lymphocyte subpopulations in patients vs controls and to evaluate the plasma levels of pro-inflammatory cytokines/chemokines in ROHHADNET syndrome.Patients and Methods: We included 14 patients (9F;5M), selected by clinical criteria, matched with 11 controls with simple obesity ...

hrp0095p1-565 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Adult Height is impaired in females with Medulloblastoma and hypogonadism: Impact of Pubertal Timing

Ferraro Paola , Casalini Emilio , Fava Daniela , Maghnie Mohamad , Patti Giuseppa , Di Iorgi Natascia

Introduction and Aim of the Study: girls with previous pediatric medulloblastoma (MB) are at risk of short stature and impairment of the hypothalamic pituitary gonadal function due to multiple risk factors;our aim was to assess the impact of hypergonadotropic hypogonadism (HH) on growth up to final height (FH) in females with or without growth hormone deficiency (GHD).Methods: anthropometrics (height-Ht-SDS, BMI-SDS, Tan...

hrp0095p1-407 | Adrenals and HPA Axis | ESPE2022

Agreement between Acth-low test and Insuline Tolerance Test in Patients with Risk Factors for Central Adrenal Insufficiency

Panciroli Marta , Angelelli Alessia , Fava Daniela , Patti Giuseppa , Napoli Flavia , Di Iorgi Natascia , Maghnie Mohamad

Background: Central adrenal insufficiency(CAI) is a potential life-threatening condition and a prompt diagnosis represents a clinical challenge; indeed, the Insulin Tolerance Test(ITT), gold standard for CAI diagnosis, can be contraindicated in some conditions. Aims were to evaluate the diagnostic value of the ACTH low test(ACTH-LT) compared to the ITT and to identify eventual determinants(primary diagnosis, risk factors, symptoms, baseline cortisol, hypothala...

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...

hrp0092p1-252 | 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...

hrp0094p1-159 | Fetal Endocrinology and Multisystem Disorders B | ESPE2021

Clinical features and body mineral density in Italian patients with rapid onset obesity with hypoventilation, hypothalamic dysfunction, autonomic disregulation and neural tumor (ROHHADNET): a single center observational study

Angelelli Alessia , Fava Daniela , Thiabat Hanan F. , Guglielmi Davide , Ceradelli Francesca Lorenzini , Maiorano Nadia Gabriella , Marasini Lucia , Pistorio Angela , Ceccherini Isabella , Napoli Flavia , Iorgi Natascia Di , Maghnie Mohamad ,

Background: ROHHAD (rapid-onset obesity with hypoventilation, hypothalamic dysfunction, autonomic dysregulation) syndrome is a rare and underdiagnosed disease with high mortality rate. When a neural crest tumor (NET) is detected (56% of patients) the acronym used is ROHHADNET.Aim: To analyze the relationship between clinical variables, hypothalamic-pituitary disorders, DXA parameters and neural tumors, in ROHHADNET patie...

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...

hrp0095p1-152 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

COVID-19 and precocious puberty: Does BMI play a role?

Pepino Carlotta , Fava Daniela , Pepe Alessia , Strati Marina , Paoloni Dalila , Patti Giuseppa , Elsa Maria Allegri Anna , Maghnie Mohamad , Di Iorgi Natascia

Background: Since COVID-19 the number of girls referred to pediatric endocrinologist for suspected precocious puberty (PP) and early puberty (EP) has increased. The aim of the study was to evaluate the incidence, the anthropometric, biochemical and radiological characteristics of PP during the COVID-19 pandemic, compared to previous years.Methods: We retrospectively evaluated medical records of 464 females (F) referred t...

hrp0095p1-116 | Growth and Syndromes | ESPE2022

Clinical and biochemical parameters of puberty onset in children with Silver Russell syndrome and children born small for gestational age

Patti Giuseppa , Malerba Federica , Scaglione Marco , Schiavone Maurizio , Grazia Calevo Maria , Varotto Carolina , Casalini Emilio , Fava Daniela , Allegri Anna , Napoli Flavia , Di Iorgi Natascia , Maghnie Mohamad

Silver-Russell syndrome (SRS) is a rare heterogeneous syndrome associated with severe prenatal and postnatal growth retardation.Context: There is little information on puberty onset and bone age trend in children with SRS.Study Design and partecipants: Retrospective observational study, including patients with a confirmed diagnosis of SRS divided in 2 molecular groups [ 11p15 loss of methylation, (...

hrp0092p1-251 | Pituitary, Neuroendocrinology and Puberty (1) | ESPE2019

Central Diabetes Insipidus in Children: Role of GH Antibodies

Napoli Flavia , Pani Fabiana , Gianti Francesca , Di Iorgi Natascia , Morana Giovanni , Allegri Anna Elsa Maria , Al_Thiabat Hanan Farid Mufleh , Gallizia Annalisa , Fava Daniela , Longo Chiara , Olcese Camilla , Vinci Francesco , Pistorio Angela , Caturegli Patrizio , Maghnie Mohamad

Central diabetes insipidus (CDI) in children is caused by brain tumors, Langerhans cell histiocytosis (LCH), trauma, infections, or genetic abnormalities in about 60% of the cases. In the remaining 40%, CDI is idiopathic even after detailed clinical and radiological investigations. Aim of the study was to assess whether measurement of serum antibodies against human growth hormone (GH) could aid in the identification of the etiological factors for CDI.<p class="abst...