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 ...

ea0081p34 | Calcium and Bone | ECE2022

Skeletal consequences of long-term replacement therapy with human recombinant PTH(1-34) in chronic hypoparathyroidism

Fischler Rebecca , Lecoq Anne-Lise , Briot Karine , Trabado Severine , Besson Florent , Bouziotis Jason , Goujard Cecile , Salenave Sylvie , Leboulleux Sophie , Carreira Emma , Chabrolle Christine , Bernard Corvilain , Chanson Philippe , Linglart Agnes , Grimon Gilles , Kamenicky Peter

Context: In patients with hypoparathyroidism refractory to conventional treatment, recombinant human (rh)PTH(1-84) or rhPTH(1-34) can be used as second-line therapy and effectively control hypocalcaemia. However, whether rhPTH replacement therapy is safe in the long term is unclear. Our objective was to assess bone effects of long-term therapy of chronic hypoparathyroidism with rhPTH(1-34). Methods: We conducted a monocenter retrospective cross-sectional...