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...

hrp0097fc10.3 | Fetal, neonatal endocrinology and metabolism (to include hypoglycaemia) & Multisystem endocrine disorders | ESPE2023

ROHHAD syndrome, thrombotic risk and endothelial damage: a single center experience.

Marcenaro Silvia , Napoli Flavia , Pistorio Angela , Angelelli Alessia , Fava Daniela , Susca Francesco , Giordano Benedetta , Caporotondi Benedetta , Tantari Giacomo , Camia Tiziana , d'Annunzio Giuseppe , Maghnie Mohamad

Background: ROHHAD/ROHHADNET syndrome (rapid-onset obesity with hypothalamic dysfunction, central hypoventilation, autonomic dysregulation with or without neural tumor - NET) – has been reported in association with cerebral venous thrombosis events, as reported also in central hypoventilation syndrome. It is not clear whether thrombotic risk represents a cause or a consequence of hypoventilation and hypothalamic dysfunction. Aim of our study was to chara...

hrp0097rfc10.4 | Fetal, neonatal endocrinology and metabolism (to include hypoglycaemia) & Multisystem endocrine disorders | ESPE2023

Clinical phenotypes of a multicentric cohort of ROHHAD patients

Napoli Flavia , Cerbone Manuela , Guftar Shaik M , Buonocore Federica , Angelelli Alessia , Fava Daniela , Tuli Gerdi , Pistorio Angela , T Dattani Mehul , Maghnie Mohamad

Background: ROHHAD syndrome (rapid-onset obesity with hypothalamic dysfunction, central hypoventilation, autonomic dysregulation) – also defined as ROHHADNET when associated with neural tumors - is a rare condition with a high mortality rate. The aim of this study is to describe the phenotypes of a multicentric cohort of ROHHAD patients.Patients and Methods: We retrospectively analyzed clinical data from 22 patient...

hrp0097p1-82 | Fat, Metabolism and Obesity | ESPE2023

Leptin receptor’s mutation in a patient with childhood obesity and hyperphagia

Partenope Cristina , Dondi Elena , De Marchi Irene , Antoniotti Valentina , Monteleone Giorgia , Bianco Carlo , Montafia Ilaria , Pagliero Federica , Aquisti Giulia , Petri Antonella , Rabbone Ivana , Prodam Flavia , Bellone Simonetta

Introduction: Genetic factors play an important role in determining individual susceptibility to weight gain and obesity. In the last few years, several genetic variants have been identified as monogenic forms of obesity. Among them, Leptin (LEP) and its receptor on hypothalamic neurons (LEPR) are key players in the regulation of body weight, food intake and energy homeostasis. Pathogenic variants in the LEPR gene cause severe childhood-onset obesity with an a...

hrp0097p1-263 | Fat, Metabolism and Obesity | ESPE2023

Evaluating genotype-phenotype relations in pediatric obesity: a single centre experience.

Giordano Benedetta , Caporotondi Benedetta , Susca Francesco , Napoli Flavia , Fava Daniela , Casalini Emilio , Pistorio Angela , Tantari Giacomo , Camia Tiziana , d'Annunzio Giuseppe , Maghnie Mohamad

Background: Childhood-onset obesity is a multifactorial disease with a lifelong health burden. In many cases, obesity is the result of the interaction between genetic predisposition and environmental factors. Aim of our study was to define phenotypic features of obese children and adolescents and to find possible associations between clinical phenotype and genetic variants.Patients and Methods: We recruited obese childre...

hrp0097p2-250 | Late Breaking | ESPE2023

Update on the Etiological Diagnosis of Central Precocious Puberty in Both Sexes

Canton Ana , Claudia Latronico Ana , Montenegro Luciana , Piovesan Maiara , Faria Aline , Tinano Flavia , Pedrosa Ludmila , Seraphim Carlos , Mendonça Berenice , Brito Vinícius

Background: The etiological investigation of central precocious puberty (CPP) has improved with more precise clinical approach, neuroimaging, and genetic studies. CPP can be caused by congenital or acquired conditions, with or without central nervous system (CNS) lesions. More recently, genetic and epigenetic disorders have been identified in children with CPP, previously classified as idiopathic.Objective: To update the...

hrp0095p1-151 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

The effect of a GnRH analogue injection on the circulating levels of kisspeptin-1 in girls with suspected central precocious puberty

Rodanaki Maria , Rask Eva , Lodefalk Maria

Introduction: Kisspeptin stimulates the gonadotropin releasing hormone (GnRH) neurons in hypothalamus initiating puberty. However, it is not known whether GnRH inhibits kisspeptin secretion by negative feedback and whether there are any associations between circulating levels of kisspeptin and other hormones, like ghrelin, important for the onset of puberty.Methods: Thirteen girls with suspected central precocious pubert...

hrp0092p2-201 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Papillary Thyroid Cancer in a 17-Years Old Girl with a Late-Diagnosed Turner Syndrome

Pankratova Maria , Brovin Dmitriy , Kareva Maria

Background: Papillary thyroid cancer has been described in three patients with Turner syndrome (TS) who received growth hormone therapy (Cabanas P, 2005; Bautembach-Minkowska J, 2018). We are presenting a case of papillary thyroid cancer in a girl with a late-diagnosed Turner syndrome who has not received any hormonal therapy up to 17 years.Clinical case: A girl was diagnosed with TS syndrome (karyotype 45XO/46X i(X)q) a...

hrp0089rfc5.3 | Thyroid | ESPE2018

Incidence and Treatment Outcome of Childhood Thyrotoxicosis

Rodanaki Maria , Lodefalk Maria , AEman Jan

Aim: To study the incidence of childhood thyrotoxicosis in five counties in central Sweden during 1990–2009 and to study the treatment outcome.Methods: Children below the age of 16 years diagnosed with thyrotoxicosis during the 20-years period and living in the study area were identified retrospectively. Data on the total number of children below 16 years of age living in the area during the study period was collected from the National Board of Stat...

hrp0089p2-p311 | Pituitary, Neuroendocrinology and Puberty P2 | ESPE2018

Incidence of Delayed Puberty in Adolescents. A Population-Based Study in a County in Central Sweden

Rodanaki Maria , Rask Eva , Lodefalk Maria

Introduction: Delayed puberty is defined as the absence of physical signs of puberty by the age of 14 years in boys and 13 years in girls. According to this definition, the prevalence of delayed puberty would be 2%, if the ages of pubertal onset were normally distributed in the population. However, the prevalence or incidence of delayed puberty has not been described before, as far as we know. Our aim was to study the incidence of delayed puberty in central Sweden.<p class...