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55th Annual ESPE

Paris, France
10 Sep 2016 - 12 Sep 2016

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Paris, France: 10-12 September 2016 Further information

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Late Breaking

hrp0086fc15.1 | Late Breaking | ESPE2016

NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of development

Baetens Dorien , Stoop Hans , Peelman Frank , Todeschini Anne-Laure , Rosseel Toon , Coppieters Frauke , Veitia Reiner , Looijenga Leendert , De Baere Elfride , Cools Martine

Background: While many causes of 46,XY disorders of sex development (DSD) have been elucidated, the mechanisms leading to 46,XX testicular or ovotesticular DSD are poorly understood. It has been hypothesized that both conditions may represent a phenotypic spectrum and that they might be caused by (different) mutations in the same genes.Methods: Whole exome sequencing was used to identify the molecular cause in ten unrelated patients with 46,XX (ovo)testi...

hrp0086fc15.2 | Late Breaking | ESPE2016

Mutations in SGPL1, the Gene Encoding Sphingosine-1-Phosphate Lyase, Cause a Novel Form of Primary Adrenal Insufficiency with Steroid Resistant Nephrotic Syndrome

Prasad Rathi , Maharaj Avinaash , Meimaridou Eirini , VanVeldhoven Paul , Buonocore Federica , Barbagaleta Eliana , Bergada Ignacio , Cassinelli Hamilton , Das Urmi , Krone Ruth , Saleem Moin , Hacihamdioglu Bulent , Sari Erkan , Storr Helen , Achermann John , Guasti Leonardo , Braslavsky Debora , Guran Tulay , Ram Nanik , Metherell Lou

Background: Primary adrenal insufficiency (PAI) is most commonly congenital in children. PAI is genetically heterogeneous with some gene defects causing syndromic disease. A third of patients have no genetic diagnosis meaning their prognosis is uncertain. We recently investigated families with a novel combination of PAI and steroid resistant nephrotic syndrome.Objective and hypotheses: To discover the genetic defect underlying this syndrome.<p class=...

hrp0086fc15.3 | Late Breaking | ESPE2016

Contribution of Next Generation Sequencing Approach for Management of Congenital Hypothyroidism with Eutopic Thyroid Gland

Savagner Frederique , Gennero Isabelle , Edouard Thomas , Cartault Audrey , Tauber Maithe , Petit Isabelle Oliver

Background: Congenital hypothyroidism (CH) is referred to dyshormonogenesis for 15 to 30%. Homozygous mutations associated have been demonstrated in DUOX2, TPO, TG, SLC5A5 (NIS), SLC26A4 (Pendred), DUOXA2, and IYD (DEHAL1) genes.Objective and hypotheses: Previous studies focusing on one or few thyroid-specific genes have proved not to be comprehensive enough for understanding physiopathological mechanisms of HC with dyshormonogenesis. Emerging diagnostic...

hrp0086fc15.4 | Late Breaking | ESPE2016

Vitamin D-Dependent Rickets Type 1 Caused by Mutations in CYP27B1 Affecting Protein Interactions with Adrenodoxin

Legeza Balazs , Ma Nina , Zalewski Adam , Renthal Nora , Fluck Christa , Pandey Amit

Background: CYP27B1 converts 25-hydroxyvitamin D3 to active 1,25-dihydroxyvitamin D3, playing a vital role in calcium homeostasis and bone growth. Vitamin D-dependent rickets type 1 (VDDR-1) is a rare autosomal recessive disorder caused by mutations in CYP27B1.Objective and hypotheses: Enzymatic and structural analysis of mutations in a patient with calcipenic rickets.Method: Two siblings presented with calcip...

hrp0086fc15.5 | Late Breaking | ESPE2016

Effect of Conjugated Linoleic Acid and Metformin on Insulin Sensitivity, Measured by Euglycemic-Hyperinsulinemic Clamp Technique, in Children with obesity: A Randomized, Double-Blinded, Placebo-Controlled Trial

Garibay Nayely , Alvarenga Juan Carlos Lopez , Alvarez Flor , Bustos Mayra , Villanueva Erendira , Leon Mireya , Serratos Fabiola , Laresgoiti Estibalitz , Macias Teresa , Ramirez Fernando , Queipo Gloria

Background: Insulin resistance precedes metabolic syndrome abnormalities, and may promote cardiovascular disease and type 2 diabetes in obese children. Lifestyle modification programs have been proposed as the gold standard of care in these individuals. However, results have been discouraging and the use of adjuvant strategies has been necessary. Metformin has beneficial effects on weight reduction, favoring a decrease in body mass index (BMI) and insulin resistance in obese n...

hrp0086fc15.6 | Late Breaking | ESPE2016

Type 1 Diabetes Associated Serum Insulin-Like Growth Factor I (IGF-I) Reference Values in Children and Adolescents

Oberg Daniel , Salemyr Jenny , Ortqvist Eva , Juul Anders , Bang Peter

Background: The disturbance of the GH-IGF-axis in type 1 diabetes (T1DM) with low circulating IGF-I, GH hypersecretion, and hyperinsulinemia, which may be associated with high tissue IGF-I, have implications on long-term vascular complications.Objective and hypotheses: To establish disease, sex and age related serum IGF-I reference values for children with T1DM and test the hypothesis that IGF-I SDS is lower in T1DM than in healthy controls and negativel...