hrp0086p2-p759 | Pituitary and Neuroendocrinology P2 | ESPE2016

A Case of Central Precocious Puberty in a Patient with Prader-Willi Syndrome

Pellegrin Maria Chiara , Tornese Gianluca , Faleschini Elena , Ventura Alessandro

Background: Hypogonadism is one of the major diagnostic criteria of Prader-Willi syndrome (PWS). A hypogonadotropic hypogonadism is often present as a result of hypothalamic dysfunction (together with other hormonal disorders, such as growth hormone deficiency and hypothyroidism).Presentation: A 8.5-year-old boy with genetically-confirmed PWS (maternal uniparental disomy) presented in our Endocrinology Unit for routinely follow-up. Therapy with rhGH was ...

hrp0084p3-1020 | Growth | ESPE2015

GH Deficiency and Glucose 1 Transporter Deficiency Syndrome

Patti Giuseppa , Tornese Gianluca , Costa Paola , Faleschini Elena , Ventura Alessandro

Background: GLUT1 deficiency syndrome (GLUT1DS) is a treatable epileptic encephalopathy resulting from impaired glucose transport into the brain. Clinical features comprise motor and mental developmental delay, seizures with infantile onset, deceleration of head growth often resulting in acquired microcephaly, and a movement disorder with ataxia, dystonia, and spasticity. While it is known that ketogenic diet may cause growth retardation, GH deficiency (GHD) may represent anot...

hrp0097p2-248 | Late Breaking | ESPE2023

Pediatric Hyperthyroidism in the Time of COVID-19: An Updated Presentation Analysis

Sol Ventura Paula , Gonzalez Alba , Valls Aina , Murillo Marta

Abstract: The SARS-CoV-2 virus uses ACE2 combined with the transmembrane-protease TMPRSS2 to enter and infect thyroid follicular cells. Studies have reported a higher incidence of hyperthyroidism cases during the COVID-19 pandemic compared to pre-pandemic periods. Studies have also been reported cases of thyroid dysfunction early after mass covid vaccinations. However, there are insufficient data to confirm these associations in children.<p class="abstext"...

hrp0092p1-282 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology (1) | ESPE2019

Characteristics of 311 Children with Early Onset Pubertal Signs. Descriptive Study

Wichner Paula Sol Ventura , Herrero Xavier , Llorca Maria Laura , Bosch Zelmira , Lacruz Marisa Torres

Aim of our study was to assess clinical characteristics and complementary studies, in patients who consulted the Endocrinology Department of our pediatric hospital, referred by pediatricians to discard precocious puberty.Methodology: it is a descriptive study based on review of medical records, with first consultation between 2010 and 2018. Criteria were developed to assign patients to one of six diagnostic categories based on age, growt...

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 ...

hrp0082p2-d3-392 | Fat Metabolism &amp; Obesity (2) | ESPE2014

HbA1c and Metabolic Parameters in a Pediatric Overweight/Obese Population

Pellegrin Maria Chiara , Grillo Andrea , Faleschini Elena , Tornese Gianluca , Ventura Alessandro

Background: HbA1c was recommended as diagnostic tool in adults at risk for diabetes. In obese patients, HbA1c shows an association even with other features of metabolic syndrome. However, its value in pediatric population for this purpose has yet to be established.Material and methods: We determined HbA1c (IFCC method) in 307 overweight/obese children and adolescents (age 11.4±3.2; range 3.0–17.9 and BMI 27.9±4.7; range 20.4–47.6) val...

hrp0082p2-d3-498 | Endocrine Oncology | ESPE2014

A Rare Brain Tumor in Noonan Syndrome: Report of Two Cases

Pellegrin Maria Chiara , Tornese Gianluca , Cattaruzzi Elisabetta , Blank Eva , Kieslich Matthias , Ventura Alessandro

Background: Noonan syndrome (NS) is a congenital polymalformative disorder caused by aberrant up-regulated signalling through RAS GTPase. Although NS is associated with hematologic malignancies, no predisposition for neuronal tumors was reported so far.Objective and hypotheses: We describe two cases of young patients with NS and dysembryoplastic neuroepithelial tumor (DNET). This is the first case series reporting a rare type of intracranial tumor in NS....

hrp0084p2-357 | Fat | ESPE2015

TG:HDL Ratio as Best Predictor for IGT Screening in Overweight Children

Pellegrin Maria Chiara , Radillo Lucia , Grillo Andrea , Tornese Gianluca , Faleschini Elena , Ventura Alessandro

Background: The prevalence of dysglycaemia is high among overweight children and adolescents. Current screening criteria with fasting laboratory values have low sensitivity to detect IGT. Fasting triglycerides (TG) >1.17 mmol/l has been proposed as a criterion for screening obese children and adolescents at risk for IGT.Aims and objectives: We aimed to compare the performance of different screening criteria for detecting IGT in obese and overweight c...

hrp0097p1-149 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Evaluation of new cutt-off points of the LHRH stimulation test in the diagnosis of central precocious puberty

Valls Llussà Aina , Murillo Vallés Marta , Martinez Couselo Silvia , Sol Ventura Paula

Introduction: Central precocious puberty (PPC) is defined by the appearance of sexual characters at a chronological age lower than -2.5DS of the average for the reference population. Diagnostic is clinical but the hormonal assessment is essential. Basal gonadotropin values are not enough for the diagnosis. Gonadotropin-releasing hormone (GnRH) stimulation tests evidence the activation of the hypothalamic-pituitary-gonadal axis, however there is controversy abo...

hrp0092p3-107 | Fat, Metabolism and Obesity | ESPE2019

Relation of Serum 25 Hydroxy-Vitamin Levels D3 with Body-Mass Index in Pediatric Patients

Ventura Wichner Paula Sol , Bosch Zelmira , Grigolato Anabella , Del Valle Rossi Romina , Fornells Eduard , LaCruz Marisa Torres

Background: The aim of our study is to determine the relation of vitamin D levels (25(OH)VD) with body-mass index (BMI), age and month of extraction in pediatric patients.Materials and Methods: We present a retrospective review of medical records of patients under 18 years of age visited by the Children's Endocrinology Service (overweight and obesity) and ambulatory pediatrics (healthy and normal weight children) at ...