Searchable abstracts of presentations at key conferences in endocrinology

ea0064031 | A novel pathogenic mutation in neurofibromatosis type 1 | BES2019

A novel pathogenic mutation in neurofibromatosis type 1

Rebecca Fischler , Isabelle Vandernoot , Valerio Lucidi , Bernard Corvilain , Natacha Driessens

Introduction: Neurofibromatosis type 1 (NF1) is one of the most frequent genetic dominant syndrom in men with a prevalence of 1 in 2600 to 3000 individuals worldwide. NIH NF1 diagnostic criteria are driven by the most frequent manifestations of the disease (café au lait macules (CAL), neurofibromas, freckling, optic glioma, Lisch nodules and osseus lesions). There are many clinical manifestations of NF1 (neurological, cardiovascular, gastrointestinal, endocrine and orthop...

ea0063p819 | Adrenal and Neuroendocrine Tumours 3 | ECE2019

A novel pathogenic mutation in neurofibromatosis type 1

Fischler Rebecca , Vandernoot Isabelle , Brouckere Veronique de , Lucidi Valerio , Corvilain Bernard , Driessens Natacha

Introduction: Neurofibromatosis type 1 (NF1) is one of the most frequent genetic dominant syndrom in men with a prevalence of 1 in 2600 to 3000 individuals worldwide. NIH NF1 diagnostic criteria are driven by the most frequent manifestations of the disease (‘café au lait’ macules (CAL), neurofibromas, freckling, optic glioma, Lisch nodules and bone lesions). There are many clinical manifestations of NF1 (neurological, cardiovascular, gastrointestinal, endocrine ...

ea0081p51 | Calcium and Bone | ECE2022

Novel variant of the casr gene c.2192g >A in a clinical case of chronic hypocalcemic hypoparathyroidism

Papadopoulou Blerta , Kosmopoulou Olga , Georgiana Taujan , Baleanu Felicia , Rosu Mihaela , Laura Iconaru , Rafik Karmali , Vandernoot Isabelle , Smits Guillaume

A 65 year old patient who was hospitalised for a reactive arthritis of the knee due to Rickettsia infection, presented an asymptomatic persistant chronic hypocalcemia and hyperphosphoremia. In her medical history, we noted a hypertension treated with amlodipine and bisoprolol, syndrome of sleep apnoea, acquired lumbar spinal canal stenosis and sequelae of poliomyelitis acquired at 10 years of age in Congo, her place of origin. According to her blood test results, total calcium...