hrp0084p1-33 | Diabetes | ESPE2015

Improved Genetic Testing for Monogenic Diabetes in the Swiss Population by Targeted Next Generation Sequencing

Dirlewanger Mirjam , Blouin Jean-Louis , Klee Philippe , Castellsague-Perolini Montserrat , Girardin Celine , Santoni Federico , Schwitzgebel Valerie

Background: Monogenic diabetes is a heterogeneous group of diabetes due to a single gene mutation and includes neonatal diabetes (NDM), MODY and rare forms of syndromic diabetes. These forms of diabetes remain undiagnosed in probably more than 90% of patients. The aim of the study was to identify mutations causing monogenic diabetes using a single test.Method: Swiss endocrinologists were proposed to participate in the study and to send blood samples of t...

hrp0084p1-96 | Growth | ESPE2015

Ligase IV Deficiency Syndrome as a Cause of Microcephalic Primordial Dwarfism in Dizygotic Twins

Girardin Celine , Ranza Emmanuelle , Klee Philippe , Dirlewanger Mirjam , Caflisch Marianne , Bottani Armand , Schwitzgebel Valerie

Background: Microcephalic primordial dwarfism (MPD) is a group of rare genetic disorders defined by severe growth restriction of both prenatal and postnatal weight (W), height (H), and particularly head circumference (HC).Objective and hypotheses: To elucidate the genetic origin of the MPD in dizygotic twins.Method: Exome sequencing of 19 genes known to be implicated in microcephaly was performed.Results: Diz...

hrp0082p1-d3-97 | Sex Development | ESPE2014

46, XX Ovotesticular Disorder of Sex Development: Potential Role of 13q31.1

Girardin Celine M , Dirlewanger Mirjam , Bena Frederique , Nef Serge , Rougemont Anne-Laure , Birraux Jacques , Schwitzgebel Valerie M

Background: The origins of 46,XX ovotesticular DSD remains unclear in the majority of the cases. New genetic tools can help identifying genes and loci involved in gonadal development and differentiation.Objective and hypotheses: We report the results of the genetic investigations performed in a 15 years old African adolescent with SRY-negative 46,XX ovotesticular DSD.Method: Clinical evaluation, imaging studies, surgical exploratio...

hrp0089rfc12.4 | Diabetes and Insulin 2 | ESPE2018

Use of Telemonitoring Via a Mobile Device App Reduces HbA1c in Type 1 Diabetic Children and Adolescents

Klee Philippe , Bussien Catherine , Castellsague Montserrat , Combescure Christophe , Dirlewanger Mirjam , Girardin Celine , Mando Jean-Luc , Perrenoud Luz , Salomon Carole , Schneider Franck , Schwitzgebel Valerie

Background and Aims: Type 1 diabetes mellitus (T1DM) belongs to the most common chronic diseases affecting children and adolescents. Technological advances have improved metabolic control over the past decades, thereby decreasing the risk of long-term complications. However, only a minority of patients meets the treatment goals of maintaining a glycated hemoglobin (HbA1c) level below 7.5% (58 mmol/mol). Webdia is an application for mobile devices developed by the fath...