0000000000115976
AUTHOR
Yves Reznik
PIK3R1 Mutations Cause Syndromic Insulin Resistance with Lipoatrophy
International audience; Short stature, hyperextensibility of joints and/or inguinal hernia, ocular depression, Rieger anomaly, and teething delay (SHORT) syndrome is a developmental disorder with an unknown genetic cause and hallmarks that include insulin resistance and lack of subcutaneous fat. We ascertained two unrelated individuals with SHORT syndrome, hypothesized that the observed phenotype was most likely due to de novo mutations in the same gene, and performed whole-exome sequencing in the two probands and their unaffected parents. We then confirmed our initial observations in four other subjects with SHORT syndrome from three families, as well as 14 unrelated subjects presenting wi…
Hyperglycémie induite par l’analogue de somatostatine pasiréotide au cours de la maladie de Cushing
Resume La maladie de Cushing entraine une morbi-mortalite importante, avec des complications cardiovasculaires, metaboliques, respiratoires et psychiatriques, une demineralisation osseuse, ainsi qu’une sensibilite accrue aux infections. Parmi les complications metaboliques, il est observe une forte prevalence d’intolerance au glucose, d’hyperglycemie a jeun, et de diabete. Bien que la chirurgie hypophysaire soit le traitement de reference, en cas de recidive, d’echec ou d’inoperabilite, d’autres strategies therapeutiques, telles que des medicaments agissant sur la synthese du cortisol, la radiotherapie, peuvent etre proposees. Enfin, en derniere intention, une surrenalectomie bilaterale peu…