hrp0094p2-317 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Noonan syndrome patients with short stature at a single pediatric endocrinology centre

Deyanova Y. , Iotova V. , Tsochev K. , Stoyanova M. , Stoicheva R. , Mladenov V. , Bazdarska Y. , Galcheva S. , Zenker M. ,

Introduction: Noonan syndrome (NS) is caused by mutations in RAS/MAPK signaling pathway genes. About 70% of the NS patients have short stature, and human recombinant growth hormone (rhGH) is an established yet not fully standardized treatment.Objective: To assess the first 2 years rhGH treatment effectiveness in NS patients at a single centre.Materials and methods: A total of 20 (16 male) NS patien...

hrp0084p3-584 | Adrenals | ESPE2015

CYP11B1 Gene Mutations in Patients with Congenital Adrenal Hyperplasia in Turkey

Bas Firdevs , Ergun-Longmire Berrin , Saka Nurcin , Toksoy Guven , Uyguner Oya , Poyrazoglu Sukran , Ahmed Shaun , Cobb Edward , Altunoglu Umut , Bundak Ruveyde , Darendeliler Feyza , Gunoz Hulya , New Maria I , Wilson Robert

Background: Congenital adrenal hyperplasia (CAH) due to 11β-hydroxylase deficiency (11OHD), a rare autosomal recessive disorder, is the second most common form of CAH, resulting in glucocorticoid deficiency, hyperandrogenism and hypertension.Objective and hypotheses: To investigate the specific CAH mutations in CYP11B1 gene and to examine for genotype-phenotype correlations.Method: 21 patients (n=9, 46, XX; <...

hrp0098p1-183 | Pituitary, Neuroendocrinology and Puberty 3 | ESPE2024

Arginine-stimulated copeptin for Central Diabetes Insipidus diagnosis in children.

Napoli Flavia , Casalini Emilio , Pisati Angelica , Balsamo Mirna , Camia Tiziana , Bianchin Silvia , Zucconi Alice , Spacco Giordano , Simiele Giulia , Marcenaro Silvia , Fava Daniela , Elsa Maria Allegri Anna , Angelelli Alessia , Patti Giuseppa , Di Iorgi Natascia , Maghnie Mohamad

Introduction: Central diabetes insipidus (CDI) diagnosis is challenging, since water deprivation test has sub-optimal sensitivity and specificity and carries an important burden for patients and care-givers. Several authors have investigated arginine as a stimulus for AVP secretion – evaluated by dosing copeptin, a pre-pro AVP cleavage product - and normal values for adult patients have already been established.Aims and Met...

hrp0095p2-202 | Multisystem Endocrine Disorders | ESPE2022

AgRP neurons mediate sex differences in response to the activity-based anorexia model

Consolata Miletta Maria

Anorexia nervosa (AN) is a multifaceted and debilitating illness characterized by self-induced starvation, persistent anxiety about weight gain, preoccupation with body image, and maladaptive food choices. It is characterized by the disruption in homeostatic energy balance mechanisms and the persistence of homeostatic hunger is overridden by dysfunctional self-regulatory and reward pathways that drive food aversion and severely restrict food intake. Epidemiological studies hav...

hrp0092p2-124 | Fat, Metabolism and Obesity | ESPE2019

Markers of Bone Metabolism in Obese Children and Adolescents

Kovalenko Tatiana , Larionova Maria

Relevance: Evaluation of bone metabolism is a new scientific direction in the study of the long-term effects of childhood obesity.Objective: To study markers of bone metabolism in children and adolescents with obesity.Materials and Methods: 74 children with overweight and obesity in accordance with the WHO criteria and 25 healthy children with an average age of 15.4[11.6;19.2] year...

hrp0082s2.2 | Endocrine Cancer Syndromes: An Update | ESPE2014

MEN1 in Children and Adolescents

Brandi Maria Luisa

Background: MEN1 is an autosomal dominant disorder that is due to mutations in the tumor suppressor gene MEN1, which encodes a 610-amino acid protein, menin. MEN1 is characterized by the occurrence of parathyroid, pancreatic islet, and anterior pituitary tumors. The prognosis for MEN1 patients might be improved by presymptomatic tumor detection and undertaking treatment specific for MEN1 tumors.Objective and Hypotheses: Genetics is increasingly becoming ...

hrp0082p3-d3-689 | Bone (2) | ESPE2014

Vitamin D Levels in Short Prepubertal Children Born Small for Gestational Age

Korpal-Szczyrska Maria

Background: Adequate vitamin D level is essential for optimal child’s growth. Small for Gestational Age (SGA) is a common cause of short stature in childhood. Being born SGA is associated with a risk of developing insulin resistance.Objective and hypotheses: The aim of the study was to evaluate serum vitamin D levels in short children born SGA and appropriate for gestational age (AGA) and to assess their relationship with insulin sensitivity.<p ...

hrp0084wg1.5 | Bone &amp; Growth Plate | ESPE2015

Fracture Prevention in Cystic Fibrosis

Bianchi Maria Luisa

The pathogenesis of altered bone metabolism leading to bone mass loss and fractures in patients with cystic fibrosis (CF) is complex, and can involve malnutrition, malabsorption, lack of physical activity, vitamin D and K insufficiency, systemic inflammation, respiratory failure, liver disease, hypogonadism, and treatment with glucocorticosteroids. Many studies reported osteopenia, osteoporosis and fractures in adults with CF, with bone loss starting at an earlier age than in ...

hrp0084p3-908 | Fat | ESPE2015

The Prevalence of Obesity in Children and Adolescents in the Udmurt Republic

Kovalenko Tatiana , Larionova Maria

Background: Obesity is an increasing problem among children and adolescents in recent decades however official statistics are contradictory.Objective and hypotheses: The purpose of this epidemiological study was to determine the prevalence of obesity in children and adolescents in the Udmurt Republic – the region in European part of the Russian Federation with a child population of 300 thousand people.Method: According to the ...

hrp0094mte5 | Management of MEN1 in children and adolescents | ESPE2021

Management of MEN1 in Children and Adolescents

Luisa Brandi Maria ,

Approximately 12% to 17% of MEN1 patients are diagnosed with the disease in the first two decades of life. Clinical evident disease appears uncommon before adolescence, with consensus guidelines currently recommending phenotype screening of confirmed MEN1 carriers commencing by age 5 years. A recent publication reviewed the recent literature in this area, that demonstrates that mortality is rare in children and young adults, whereas morbidity is not uncommon for various endocr...