hrp0084p3-701 | Diabetes | ESPE2015

HbA1c Rather Than BMI Lifestyle and Adherence to Mediterranean Diet is the Major Determinant of Triglyceride/HDL Cholesterol Ratio in Adolescents with Type 1 Diabetes

Poluzzi Silvia , Zucchini Stefano , Maltoni Giulio , Zioutas Maximiliano , Balsamo Claudia , Morselli-Labate Antonio Maria , Nardi Elena , Mazzanti Laura

Background: Triglyceride (TG)/HDL ratio has recently been considered a index of cardio-metabolic risk in healthy and obese subjects. Diet, lifestyle indexes, anthropometric parameters, and metabolic control are the variables with possible influence on belonging to a certain cardio-metabolic risk group.Objective and hypotheses: To identify whether HbA1c per se has an influence on TG/HDL and to study other possible variables influencing the ratio....

hrp0084p3-838 | Fat | ESPE2015

Bioavailable Vitamin D in Obese Children: The Role of Insulin Resistance

Grandone Anna , Del Giudice Emanuele Miraglia , Cirillo Grazia , Di Sessa Anna , Umano Giuseppina , Marzuillo Pierluigi , Capristo Carlo , Perrone Laura

Background: Studies examining vitamin D levels in association with childhood obesity usually do not concurrently measure levels of vitamin D-binding protein and do not calculate the unbound, bioavailable vitamin D, that is considered the fraction of 25-hydroxyvitamin D able to exert biological activity.Objective and hypotheses: To evaluate in a group of children for the most part obese i) the concentrations of both total 25-hydroxyvitamin D and of the bi...

hrp0084p3-1176 | Thyroid | ESPE2015

Graves’ Disease in Childhood and Adolescence: Clinical Manifestations, Adverse Effects, and Predictive Factors for Response to Antithyroid Drugs

Dujovne Noelia Vanesa , Dratler Gustavo , Pitoia Fabian , Felipe Laura , Ayarzabal Victor , Soria Ianina , Berger Malena , Belgorosky Alicia , Herzovich Viviana

Background: Antithyroid drugs (ATD) are recommended as the initial treatment in Graves disease in childhood and adolescence. Identification of predictive factors might lead to improve patient management by facilitating the identification of patients requiring long-term ATD or early alternative therapy.Objective and hypotheses: To assess the prevalence of signs and symptoms of hyperthyroidism in childhood and adolescence, to evaluate the rates of adverse ...

hrp0084lbp-1260 | Late Breaking Posters | ESPE2015

Decreased AMY1 Gene Copy Number is Associated with Increased Obesity Risk in a Population of Caucasian School Children

Marcovecchio M Loredana , Florio Rosalba , Verginelli Fabio , De Lellis Laura , Verzilli Delfina , Chiarelli Francesco , Cama Alessandro , Mohn Angelika

Background: Genome-wide association studies have identified more than 60 SNPs associated with BMI. Additional genetic variants, such as copy number variations (CNV), have also been implicated in the pathogenesis of obesity. Recently, the highly polymorphic CNV in the salivary amylase (AMY1) gene has been associated with obesity risk in adults.Objective and hypothesis: To assess the potential association between AMY1 copy number and BMI ...

hrp0094fc3.3 | Growth Disorders | ESPE2021

Genetic characterization of a cohort of children with short stature

Cavarzere Paolo , Turolla Lorenzo , Gaudino Rossella , Baffico Ave Maria , Maffei Massimo , Palma Laura , Pietrobelli Angelo , Coviello Domenico , Antoniazzi Franco ,

Background: Short stature is defined as a height more than two standard deviations below the mean for age and sex. Pathologic causes of short stature include growth hormone deficiency, hypothyroidism, celiac disease, inflammatory bowel disease or other chronic diseases, hormonal abnormalities, and genetic disorders, such as Turner syndrome. Moreover, among other variants of short stature, scholarship also described familial short stature, constitutional delay ...

hrp0094p1-200 | Thyroid B | ESPE2021

Functional studies of PAX8 gene variants in patients affected by congenital hypothyroidism with eutopic thyroid gland

Camats Nuria , Baz-Redon Noelia , Fernandez-Cancio Monica , Clemente Maria , Campos-Martorell Ariadna , Antolin Maria , Soler Laura , Yeste Diego ,

Introduction: Thyroid dyshormonogenesis is a heterogeneous group of hereditary diseases produced by the total/partial blockage of the biochemical processes involved in thyroid-hormone synthesis and secretion. Many genes are involved in this process. PAX8 is a transcription factor essential for thyroid-gland morphogenesis and synthesis of thyroid hormones, since it activates TG, TPO and TSHR gene transcription. More than 50 PAX8</...

hrp0094p2-58 | Bone, growth plate and mineral metabolism | ESPE2021

Denosumab therapy for giant cell granuloma in a paediatric patient: using quantification of Tc99m-MDP uptake on SPECT imaging to guide treatment.

Wade Laura , Siddle Kathryn , Aderotimi Tobi , Armitage Suzanne , Blair Joanne , Munns Craig , Barnes Nik , Abernethy Laurence , Dharmaraj Poonam ,

Background: Giant cell granulomas (GCG) are uncommon bony lesions that most commonly affect the maxilla and mandible; whilst generally benign they can be disfiguring to the face. Historically, GCGs have been treated with steroids or bisphosphonates to try and avoid surgical resection. Over recent years denosumab, a human monoclonal antibody which acts against the receptor activator of nuclear factor kappa B ligand, has been shown to be effective in treating GC...

hrp0097fc12.5 | Thyroid | ESPE2023

Teprotumumab in an adolescent with severe corticosteroid-resistant Graves ophthalmopathy: success but unexpected neurological manifestations

Atger-Lallier Laura , Elmaleh Monique , Pedron Beatrice , Storey Caroline , De Filippo Gianpaolo , Martinerie Laetitia , Leger Juliane , Carel Jean-Claude

Moderate to severe Graves ophthalmopathy (GO) is rare in children and most patients have mild GO. This complex inflammatory autoimmune disorder affecting the orbital fat and muscles is linked to circulating TSH receptor antibodies and involves the insulin-like growth factor-I receptor (IGF-IR) on orbital fibroblasts. Severe GO features include proptosis, diplopia and vision loss. Intravenous glucocorticoid pulse therapy is the first line medical treatment for moderate to sever...

hrp0097rfc6.5 | Pituitary, neuroendocrinology and puberty 1 | ESPE2023

Efficacy and security of gonadotropin treatment in adolescents with congenital hypogonadotropic hypogonadism

Sayol-Torres Laura , González Judith , Gonzalez Núria , Campos Ariadna , Mogas Eduard , Yeste Diego , Clemente Maria

Objective: To describe efficacy and security of treatment protocol with gonadotropins in adolescents with hypogonadotropic hypogonadism (HH).Methods: Prospective study of patients with HH who received hGH and rhFSH in puberty. HH diagnosed during first months of life or in adolescence (testicular volume<4cc in >16 year-old with FSH<1.2UI/L, testosterone<40ng/dL and GnRH-test with LH-peak<6UI/L)<p class...

hrp0097p1-479 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2023

Early-life exposure to phthalates and minipuberty: is there any relationship?

Lucaccioni Laura , Palandri Lucia , Trevisani Viola , Righi Beatrice , Calandra Bonaura Filippo , Predieri Barbara , Righi Elena , Iughetti Lorenzo

Background: Nowadays, the role of minipuberty in influencing pubertal development is well documented. Phthalates are ubiquitous environmental contaminants and endocrine-disrupting chemicals (EDCs) with reproductive toxic effect. Aim of this study is to assess phthalate exposure within the first months of life in a cohort of healthy term infants and their mothers and the possible relationship with minipuberty.Methods: Sin...