hrp0097p1-215 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Clinical and genetic characteristics of primary hypoparathyroidism in children:two-center experience in China

Shen Yingxiao , Yang Wei , He Qin , Xu Xiaoqin , Huang Ke , Dong Guanping , Fu Junfen , Wei Haiyan , Wu Wei

Object: To analyze the clinical and genetic characteristics of primary hypoparathyroidism in children from two children's hospitals in China.Methods: This study includes 47 patients (26 males, 21 females), who were diagnosed with primary hypoparathyroidism in Children's Hospital of Zhengzhou University and Children's Hospital of Zhejiang University School of Medicine from January 2015 to November 2022. We ...

hrp0082fc8.1 | Fat Metabolism | ESPE2014

Activation of the ER Stress Response in Cultured Human Umbilical Vein Endothelial Cells by Plasma Obtained from Prepubertal Obese Children

de Giorgis Tommaso , Di Silvestre Sara , Mohn Angelika , Di Pietro Natalia , Marcovecchio Maria Loredana , Cordone Vincenzo , Mandatori Domitilla , Chiavaroli Valentina , Bologna Giuseppina , Pandolfi Assunta , Chiarelli Francesco

Background: Childhood obesity is commonly associated with signs of endothelial dysfunction, characterized by impairment of insulin signaling and vascular NO availability. Recently both these features have been associated with endoplasmic reticulum (ER) stress, however the role of ER stress in the mechanism/s leading to vascular dysfunction in childhood obesity remains still to be established.Objective and Hypotheses: To evaluate ER stress and insulin-sti...

hrp0097rfc3.2 | Fat, metabolism and obesity 1 | ESPE2023

Reduced central sensitivity to thyroid hormones in children and adolescents with overweight or obesity and impaired glucose tolerance.

Corica Domenico , Di Bonito Procolo , Rosaria Licenziati Maria , Di Sessa Anna , Miraglia Del Giudice Emanuele , Felicia Faienza Maria , Calcaterra Valeria , Franco Francesca , Maltoni Giulio , Valerio Giuliana , Wasniewska Malgorzata

Background: Thyroid hormones (TH) play multiple effects on glucose metabolism. Some recent studies carried out in adult patients suggested an association between altered sensitivity to TH and type 2 diabetes, obesity, and metabolic syndrome. No studies are currently available on the presence of altered sensitivity to the action of TH in youths with prediabetes.Objective: To evaluate the relationship between sensitivity t...

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...

hrp0095p1-539 | Multisystem Endocrine Disorders | ESPE2022

Rett Syndrome Patients: Do They need Pediatric Endocrinologist’s care?

Pepe Giorgia , Corica Domenico , Coco Roberto , Di Rosa Gabriella , Aversa Tommaso , Wasniewska Malgorzata

Background: systematic data about endocrinopathies in Rett syndrome (RTT) patients are still scarce and not univocal.Objective: to assess the prevalence of endocrinopathies in a pediatric population of RTT patients.Design: retrospective observational single center study.Methods: 29 caucasian patients (28 girls,1 boy) with genetically confirme...

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...

hrp0095p2-274 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Congenital hypogonadotropic hypogonadism caused by a novel mutation of GnRHR gene: a case report

Cristina Maggio Maria , Venezia Renato , Maria Di Blasio Anna , Corsello Giovanni

Hypogonadotropic hypogonadism is characterized by low levels of gonadotropins and delayed or absent sexual development. Most of the patients reach the diagnosis in late adolescence or in adulthood. A timely, appropriate diagnosis implicates a better clinical outcome and treatment timing. We describe the clinical case of a 15-year-old girl with primary amenorrhea. Stature and weight were in accordance with mid parental height; Tanner stage: PH2 B1. FSH, LH, oestradiol showed pr...

hrp0092p1-354 | Fat, Metabolism and Obesity (2) | ESPE2019

Association Between Adiposity Measures and Metabolic Variables in Children and Adolescentswith Obesity

Umano Giuseppina Rosaria , Di Sessa Anna , Cirillo Grazia , Ursi Davide , Marzuillo Pierluigi , Miraglia Del Giudice Emanuele

Childhood obesity has become a major health issue in the last decades. Moreover, identifying a simple, feasible, and valid screening tool to select subjects at higher risk for obesity-related comorbidities has become a challenge. Current guidelines reccommend to use BMI percentile for overweight and obesity diagnosis. However, waist-to-height ratio (WHR) has been associated with the risk of metabolic derangement in children and adolescents with overweight and obesity. In addit...

hrp0092p2-92 | Diabetes and Insulin | ESPE2019

An Impaired Lipid Profile is a Sign of Reduced Insulin Sensitivity in Children and Adolescents at Type 1 Diabetes Onset

Maltoni Giulio , Zucchini Stefano , Zioutas Maximiliano , Di Natale Valeria , Cassio Alessandra

At type 1 diabetes (T1D) onset, international guidelines reccommend a starting subcutaneous insulin dose widely ranging from 0,5 to 1 u/kg/day. In fact, many factors such as age, pubertal stage and the severity of ketoacidosis, may influence insulin sensitivity. However, it is a common experience that many subjects may require a higher insulin daily dose than expected, with the subsequent need of longer time to achieve stable blood glucose values and the extension of days of h...

hrp0089p2-p010 | Adrenals and HPA Axis P2 | ESPE2018

Hypoglycemic Crisis and Salt Loss in Children with Classic Congenital Adrenal Hyperplasia

Badalucco Simona , Meroni Silvia Laura Carla , Di Lascio Alessandra , Gianninoto Moira , Stancampiano Marianna Rita , Russo Gianni

Objective: Acute adrenal crisis is one of the main concerns in children with classic congenital adrenal hyperplasia (CAH). The aim of this study was to evaluate hypoglycemic and salt-wasting episodes in children with an established diagnosis of classic 21-hydroxylase deficiency (21-OHD) after start of treatment.Methods: A retrospective observational study was conducted for 85 patients with classic CAH (68 salt-wasting and 17 simple virilizing), aged 1 to...