hrp0086fc9.1 | Pathophysiology of Disorders of Insulin Secretion | ESPE2016

Next Generation Sequencing for the Diagnosis of Monogenic Diabetes in Switzerland

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

Background: Monogenic diabetes (MD) remains undiagnosed in more than 90% of the cases. However, precise, quick and cost-effective diagnosis is important to choose an adequate treatment and to avoid long-term complications.Objective and hypotheses: To develop and validate a diagnostic tool to improve diagnosis rate of MD in Switzerland, as well as to open new research directions.Method: Targeted next-generation sequencing (NGS) of 3...

hrp0082p1-d1-58 | Diabetes | ESPE2014

A leu402pro Mutation of the Non-hla Gene il18rap in Aggressive Neonatal Type 1 Diabetes Mellitus

Dirlewanger Mirjam , Blouin Jean-Louis , Bevillard Jeremy , Santoni Federico , Schwitzgebel Valerie

Background: Neonatal diabetes mellitus is defined by severe hyperglycemia appearing before 6 months of age. It occurs in about one in 200 000 live births and most cases are known to be of monogenic origin. Classical autoimmune type 1 diabetes mellitus (DM) is exceptional in this age group.Objective and hypotheses: Recently non-HLA type 1 DM susceptibility genes, such as IL18RAP, influencing the rate of progression to diabetes among children with...

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...

hrp0086rfc9.4 | Pathophysiology of Disorders of Insulin Secretion | ESPE2016

Prevalence of Monogenic Diabetes in the Lithuanian Pediatric and Young Adult Population

Schwitzgebel Valerie , Dirlewanger Mirjam , Klee Philippe , Santoni Federico , Blouin Jean-Louis , Razanskaite-Virbickiene Dovile , Danyte Evalda , Dobrovolskiene Rimante , Marciulionyte Dalia , Stankute Ingrida , Verkauskiene Rasa

Background: Monogenic diabetes is a heterogeneous group of metabolic disorders resulting from defects in single genes. Over 90% of the subjects remain undiagnosed, mainly because of lack of access to genetic testing.Objective and hypotheses: The aim of our study was to do a comprehensive genetic analysis of the whole pediatric and young adult autoimmune antibody negative diabetes population of Lithuania.Method: 860 children (age 0&...

hrp0095p1-347 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Congenital hypogonadotropic hypogonadism and Cornelia de Lange Syndrome share clinical phenotype and genetic background

Kolesinska Zofia , Xu Cheng , Messina Andrea , Acierno James , Niederlander Nicolas , Santoni Federico , Papadakis Georgios , Pignatelli Duarte , Avbelj Stefanija Magdalena , Smith Kimberly Keefe , Balasubramanian Ravikumar , Crowley William , Pitteloud Nelly

Background: Congenital hypogonadotropic hypogonadism (CHH) is caused by impaired function of GnRH neurons, which clinically manifests by incomplete or absent puberty and infertility. The phenotype may be broader with other developmental anomalies such as anosmia, which is known as Kallmann syndrome. To date, there are more than 40 genes in which mutations underlie CHH. Cornelia de Lange Syndrome (CdLS) is characterized by facial dysmorphia, psychomotor delay, ...

hrp0095fc9.4 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Delayed puberty: unraveling the different trajectories and contributions of AI

Antoniou Maria-Christina , Xu Cheng , Zouaghi Yassine , Papadakis Georgios , Stoppa-Vaucher Sophie , Kolesinska Zofia , Bouthors Thérèse , Lore Ruiz Arana Inge , Elowe-Gruau Eglantine , Phan-Hug Franziska , Pasquier Jerôme , Adamo Michela , Deladoey Johnny , Vuissoz Jean-Marc , Busiah Kanetee , Hauschild Michael , Santoni Federico , Acierno James , Pitteloud Nelly

Introduction: Differentiation between constitutional delay of growth and puberty (CDGP) and congenital hypogonadotropic hypogonadism (CHH) during early adolescence is challenging, as patients exhibit a similar clinical picture and there are no definite clinical or biochemical markers that distinguish these 2 pathologies. A delay in diagnosis, especially for CHH, may have short and long-term health consequences. The aims of this study were: 1) To evaluate the u...