Etude des anastomoses entre la veine rénale gauche et les plexus intra-rachidiens

Résumé Des anastomoses entre la veine rénale gauche et les plexus rachidiens existent dans environ 80% des cas (16 cas sur 20); elles sont importantes dans 25% des cas (5 cas). Le siège de leur origine est fixe: le plexus du trou de conjugaison de l'espace L1–L2 reçoit généralement ces voies anastomotiques.Ces anastomoses ont une grande importance, puisqu'elles constituent la seule voie collatérale de sûreté du rein dans 7 cas sur 20. Leur hypertrophie, dans certains cas pathologiques, peut être responsable de troubles neurologiques par compression, réversibles après ligature des anastomoses hypertrophiées.     

Clinical follow-up of the first SF-1 insufficient female patient

ObjectiveSteroidogenic factor 1 (SF-1/NR5A1) plays a crucial role in regulating adrenal development, gonad determination and differentiation, and in the hypothalamic-pituitary control of reproduction and metabolism. In men (46, XY), it is known that mutations in SF-1/NR5A1 gene cause a wide phenotypic spectrum with variable degrees of undervirilization. In recent years, the role of SF-1 in the ovarian function was increasingly discussed and alterations in the gene were related to primary ovarian insufficiency. We describe the follow-up of a 46, XX affected woman with a SF-1 mutation and by comparing our case with the known manifestations reported in the literature, we try to further elucidate the function of SF-1 in the ovary.ResultsDuring infancy, adrenal insufficiency was the only clinical sign of the loss-of-function as ovarian development and function seemed normal. To date, this young woman aged 16.5 years shows normal growth, normal BMI and psychomotor development, has a normal puberty and regular menstruation.ConclusionThis report shows one, to date uniquely described, phenotypic variant of SF-1 mutation in a 46, XX affected person with adrenocortical insufficiency but no ovarian dysfunction nor disturbance of pubertal development. To follow the natural history of SF-1 mutation in a 46, XX individual will further shed light on its role in the ovarian function and thus will help to counsel affected patients in future.