hrp0092rfc8.3 | Pituitary, Neuroendocrinology and Puberty Session 1 | ESPE2019

Central Precocious Puberty Caused by Novel Mutations in the Promoter and 5'-UTR Region of the Imprinted MKRN3 Gene

Fanis Pavlos , Skordis Nicos , Toumba Meropi , Papaioannou Nikoletta , Makris Anestis , Kyriakou Andreas , Neocleous Vassos , Phylactou Leonidas

Background: Central Precocious Puberty (CPP) is clinically defined by the development of secondary sexual characteristics before the age of 8 years in girls and 9 years in boys. To date, mutations in the coding region of KISS1, KISS1R, DLK1 and MKRN3 genes have been reported as causative for CPP. This study investigated the presence of causative mutations in both the promoter and the 5'-UTR regions of the MKRN3 ...

hrp0084p3-864 | Fat | ESPE2015

A Systemic Approach for the Management of the Program Entitled ‘Development of a National System for the Prevention and Management of Overweight and Obesity in Childhood and Adolescence in Greece’

Kassari Penio , Papaioannou Panagiotis , Charmandari Evangelia

Background: The prevalence of obesity has increased dramatically in Greece in the last two decades, and more than 35% of children and adolescents are currently overweight or obese. Prevention could be the key strategy for controlling the current epidemic of obesity.Objective and hypotheses: Prevention is the main scope of the Program entitled ‘Development of a National System for the Prevention and Management of Overweight and Obesity in Childhood a...

hrp0082p2-d2-526 | Pituitary (1) | ESPE2014

Child with GH Deficiency due to Remnant Craniopharyngeal Duct

Vlachopapadopoulou Elpis , Maniatakou Evgenia , Sgouros Spyros , Papaioannou Georgia , Dikaiakou Irene , Michalacos Stefanos

Background: A child with slow growth rate (<−2 SDS) polyuria and polydipsia warrants urgent investigation for hypothalamic–pituitary tumors.Objective and hypoyhesis: To present the case of a boy with slow growth rate, polyuria NAD polydipsia due to remnant craniopharyngeal duct.Method: Boy 11 years old, was evaluated because of short stature and slow growth rate documented for 2 years. He reported no headaches but he...

hrp0086p1-p456 | Fat Metabolism and Obesity P1 | ESPE2016

E-Health: A National Registry and Therapeutic Algorithm for the Prevention and Management of Overweight and Obesity in Childhood and Adolescence in Greece

Kassari Penio , Papaioannou Panagiotis , Billiris Antonis , Karanikas Haralampos , Eleftheriou Stergiani , Thireos Eleftherios , Manios Yannis , Chrousos George P. , Charmandari Evangelia

Background: Obesity in childhood and adolescence represents a major health problem of our century and accounts for a significant increase in morbidity and mortality in adulthood. In Greece, more than 35% of children and adolescents are currently overweight or obese.Objective and hypotheses: To develop a National e-Health System for General Pediatricians and General Practitioners for the prevention and management of overweight and obesity. Specific aims i...

hrp0086p1-p824 | Syndromes: Mechanisms and Management P1 | ESPE2016

Growth Hormone Deficiency in Noonan Syndrome: Does it Influence Clinical Response to GH Therapy?

Pellegrin Maria Chiara , Tornese Gianluca , Faleschini Elena , Masera Nicoletta , Pozzobon Gabriella , Selicorni Angelo , Ventura Alessandro

Background: Short stature is a main feature of Noonan syndrome (NS). Although rhGH is commonly used in NS patients, it is not known whether a defect in the secretion of GH influences the response to rhGH therapy.Objective and hypotheses: The aim of this study was to evaluate the efficacy and safety of rhGH treatment in NS patients, according to the presence of GH deficiency at the baseline.Method: We retrospectively collected data ...

hrp0084p3-1198 | Thyroid | ESPE2015

Thyroid Function in a Large Group of Obese Children: Causes and Consequences

Lupi Fiorenzo , Radetti Giorgio , Longhi Silvia , Grugni Graziano , Marazzi Nicoletta , Fanolla Antonio , Sartorio Alessandrio

Background: Mild TSH elevations are frequently observed in obese patients, in the absence of any detectable thyroid disease.Aims and objective: To evaluate possible causes for the raised TSH levels and to verify possible biochemical and clinical consequences of this condition.Methods: We evaluated 779 (325 males/454 females) obese children, chronological age 14.38±2.56 (range 5.25 to 18.50), height SDS 0.27±1.04 (range &#...

hrp0092p1-118 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Whole Exome Sequencing (WES) Reveals Oligogenic Gene Mutations in a Case of Combined Pituitary Hormone Deficiency (CPHD)

Sertedaki Amalia , Tatsi Elizabeth-Barbara , Nikaina Eirini , Vasilakis Ioannis Anargyros , Fylaktou Irene , Iacovidou Nicoletta , Siahanidou Soultana , Kanaka-Gantenbein Christina

Introduction: CPHD is characterized by GH and at least one other pituitary hormone deficiency. Mutations in genes expressed in the developing head, hypothalamus, and/or pituitary cause CPHD. To date around 30 genes have been identified to be related to CPHD, however the 85% of the cases remain with unknown aetiology. Whole Exome Sequencing (WES) enables parallel searching for pathogenic variants of CPHD in targeted known gene panels as well as the identifi...

hrp0089p2-p033 | Adrenals and HPA Axis P2 | ESPE2018

Quantitative Ultrasound Evaluation in a Cohort of 43 Young Adults with Classical CAH due to 21-Hydroxylase Deficiency (21OHD): Is Bone Mineral Quality Impaired?

Baronio Federico , Balsamo Antonio , Ortolano Rita , Massaccesi Nicoletta , Bettocchi Ilaria , Zioutas Maximiliano , Maltoni Giulio , Zucchini Stefano , Cassio Alessandra

Background: In young adults patients (pts) with CAH due to 21OHD few and conflicting data have been reported on bone mineral quality (BMQ) evaluated by quantitative ultrasound (QUS).Objective and hypotheses: To evaluate the bone mineral status by QUS variables assessed at proximal phalanges of the hand in a cohort of young adults with classical CAH due to 21OHD and the possible associations with their clinical and metabolic features.<p class="abstext...

hrp0094p2-209 | Fat, metabolism and obesity | ESPE2021

A novel homozygous variant of the leptin receptor (LEPR) gene causing familiar early-onset severe obesity in two siblings

Molinari Silvia , Ceccarini Giovanni , Masera Nicoletta , Spano Alice , Maitz Silvia , Fossati Chiara , Lazzerotti Alessandra , Santini Ferruccio , Cattoni Alessandro ,

Introduction: The leptin-melanocortin pathway is a well-studied pivotal player of body weight regulation and energy homeostasis. Pathogenic mutations of the genes involved in this pathway may result in early-onset severe obesity (ESO).Case Report: We hereby report the case of a 14-year-old girl who was referred to our pediatric outpatient clinic for the evaluation of ESO. Her parents were non-obese first cousins born in Morocco. At the t...