hrp0097p2-93 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Diabetes insipidous and non langerhans histiocitosis, a challenging diagnosis

Polenzani Ilaria , FInamore Martina , Ferri Chiara , Palmoni Monica , Mascaro Rossella , Magnacavallo Annalia , Rizzi Alessia , Barera Graziano , Pozzobon Gabriella , Bucolo Carmen , Meroni Silvia

A 5-years-old boy was admitted because of polydipsia and polyuria. His family history was unremarkable. After water deprivation test (10h), laboratory test showed high levels of serum sodium (150.1 mmol/L), low urine osmolarity (88 mOsm/kg) and high serum osmolarity (301 mOsm/kg) consistent with the diagnosis of central diabetes insipidus (CDI). He started therapy with oral desmopressin with clinical improvement. Brain MRI revealed pituitary stalk thickening (3 mm), no hyperin...

hrp0084p2-353 | Fat | ESPE2015

A New Mutation of PCSK1 Revealed by Neonatal Malabsorptive Diarrhoea, Panhypopituitarism, and Major Obesity

Bouhours-Nouet Natacha , Donzeau Aurelie , Decrequy Anne , Goideau Marion , Ziegler Alban , Colin Estelle , Bonneau Dominique , Coutant Regis

Background: Proprotein convertase subtilisin/kexin types 1 and 2 (PCSK1 and PCSK2) are expressed in neuroendocrine tissues where they cleave a subset of inactive prohormones into biologically active hormones, including pro-opiomelanocortin (POMC), proTRH, proinsulin, proglucagon, and proGnRH. Congenital deficiency of PCSK1 is a very rare syndrome causing malabsorptive diarrhea contrasting with severe early-onset obesity and hypopituitarism. We described here a new case of cong...

hrp0097p1-446 | Fat, Metabolism and Obesity | ESPE2023

The evolution of diagnosis and care over time in children with Prader-Willi syndrome, born between 2005 and 2021, included in the French database.

Faye Sandy , Molinas Catherine , Brochado Cathy , Valette Marion , Desprez Clémence , Diene Gwenaelle , Arnaud Catherine , Tauber Maithé

Introduction: The French Reference Centre PRADORT set up a national Access® database in 2005 for children diagnosed with Prader-Willi Syndrome (PWS). The medical, socio-demographic and family data of 813 patients were then collected.Method: We aim to analyse the evolution of diagnosis and care over time, according to the birth year of patients by comparing 3 groups (patients born between 2005 to 2009, 2010 to 2014 an...

hrp0094p1-112 | Fat, Metabolism and Obesity B | ESPE2021

Evaluation of the BigO behavioral indicators in overweight and obese children and adolescents

Kassari Penio , Tragomalou Athanasia , Vourdoumpa Aikaterini , Koutaki Diamanto , Papadopoulou Marina , Manou Maria , Ioakeimidis Ioannis , Filis Konstantinos , Theodoropoulou Eleni , Lymperopoulos Giorgos , Ferri Daniel , Karavidopoulou Youla , Stefanopoulos Leandros , Sarafis Ioannis , Diou Christos , Lekka Eirini , Maglaveras Nicos , Delopoulos Anastasios , Charmandari Evangelia ,

Background: Obesity represents one of the most challenging public health problems of our century. According to the World Health Organization, there is a need to create reliable monitoring and behavioral systems, and to investigate their effectiveness in preventing childhood obesity.Objective: To evaluate the BigO behavioral indicators in a pediatric population in Greece.Methodology: The study was c...

hrp0094p2-173 | Fat, metabolism and obesity | ESPE2021

Evaluation of the BigO system during the COVID-19 outbreak in Greece

Kassari Penio , Tragomalou Athanasia , Vourdoumpa Aikaterini , Koutaki Diamanto , Papadopoulou Marina , Manou Maria , Ioakeimidis Ioannis , Filis Konstantinos , Theodoropoulou Eleni , Lymperopoulos Giorgos , Ferri Daniel , Karavidopoulou Youla , Stefanopoulos Leandros , Diou Christos , Lekka Eirini , Maglaveras Nicos , Delopoulos Anastasios , Charmandari Evangelia ,

Background: Since December 2019, the world has witnessed a global pandemic due to SARS-CoV-2 coronavirus (COVID-19), which has led to lifestyle changes as a result of Public Health Regulations and Guidelines introduced by governments worldwide.Objective: To determine the body mass index (BMI) trajectory in children and adolescents with overweight and obesity with respect to the COVID-19 outbreak in Greece.<p class="a...

hrp0094p2-183 | Fat, metabolism and obesity | ESPE2021

Evaluation of the BigO system in a clinical setting in Greece

Kassari Penio , Tragomalou Athanasia , Vourdoumpa Aikaterini , Koutaki Diamanto , Papadopoulou Marina , Manou Maria , Ioakeimidis Ioannis , Filis Konstantinos , Theodoropoulou Eleni , Lymperopoulos Giorgos , Ferri Daniel , Karavidopoulou Youla , Stefanopoulos Leandros , Diou Christos , Lekka Eirini , Maglaveras Nicos , Delopoulos Anastasios , Charmandari Evangelia ,

Background: Obesity in childhood and adolescence represents one of the most important public health problems. Over the last decade, the widespread use of personal digital technologies, such as smart mobiles and accelerometers, create new possibilities for collecting bevavioral data objectively.Objective: To evaluate the body mass index (BMI) trajectory after at least one monthÂ’s use of the BigO system.<p class="...

hrp0097p2-117 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Pediatric onset hypophosphatasia: a case report

Mascaro Rossella , Lia Magnacavallo Anna , Finamore Martina , Ferri Chiara , Palmoni Monica , Polenzani Ilaria , Rizzi Alessia , Laura Carla Meroni Silvia , Bucolo Carmen , Pitea Marco , Weber Giovanna , Barera Graziano , Cinzia Pozzobon Gabriella

A 8 years and 7 months old male presented with short stature related to his target height. No history of bones fractures. The patient was 120.7 cm (- 1.77 SDS). Physical exam demonstrated peculiar facies, relative macrocephaly, delayed tooth eruption and pectus carinatum. He referred during the clinical evaluation diffuse bone pain and weakness, mostly exacerbated by sport activity. A first diagnostic investigation had already been made showing low serum alkaline phosphatase a...

hrp0092p1-44 | Fat, Metabolism and Obesity | ESPE2019

Metabolic Complications After Paediatric Liver Transplantation: A 10-year Longitudinal Study in a South-East Asian Population

Beng Hui Ng Nicholas , Yijuan Lim Yvonne , Wei Li Ho Cindy , Anjian Sng Andrew , Aw Marion , Seng Lee Yung , Yin Loke Kah

Background: Improved patient and graft survival post-liver transplantation has led to a parallel increase in metabolic syndrome (MS) reported in multiple centres. We aimed to study the prevalence and risk factors of metabolic complications in our paediatric liver transplant (LT) cohort.Methods: This was a retrospective review of the LT database from 1995-2018. We studied the incidence of overweight, obesity (WHO BMI crit...

hrp0094p2-200 | Fat, metabolism and obesity | ESPE2021

Impact of weight loss on gonadic function in overweight and obese boys

Rerat Solene , Coutant Regis , Beaumesnil Marion , L’hours Marie-clemence , Bouhours-Nouet Natacha , Donzeau Aurelie , Rouleau Stephanie , Levaillant Lucie , Emeriau Fabienne , Moal Valerie , Boux de casson Florence , Amsellem-Jager Jessica ,

Introduction: In obese boys, alteration of Sertoli and Leydig cell functions have been described, but potential reversibility of these alterations after weight loss during childhood has not been fully evaluated.Objective: Evaluate the impact of weight loss on gonadic function in obese boys.Setting: Monocentric study in the Pediatric Endocrinology Unit of Angers University Hospital ant its follow-up...

hrp0097t10 | Section | ESPE2023

Long term effects at 3-4 years of age of early intranasal oxytocin treatment in infants with Prader-Willi syndrome

Valette Marion , Diene Gwenaelle , Glattard Mélanie , Cortadellas Julie , Molinas Catherine , Faye Sandy , Benvegnu Grégoire , Boulanouar Kader , Payoux Pierre , Pierre SALLES Jean , Arnaud Catherine , Cabal-Berthoumieu Sophie , Tauber Maithé

Introduction: The neuropeptide oxytocin (OT) plays an important role in modulating behaviour and social interactions. Prader-Willi syndrome (PWS) is a rare genetic neurodevelopmental disorder due to abnormal hypothalamic development including OT dysfunction that involves endocrine, nutritional and behavioural outcomes/features/trajectory. We previously showed in a phase I/II study (NCT02205034) that 18 infants with PWS, less than 6 months of age, who received ...