Prise en charge du syndrome de Turner

Abstract

Turner syndrome is a chromosomal abnormality affecting 1 in 2500 female births. It is defined by the combination of a dysmorphic and malformative syndrome, the main features of which are short stature and gonadal dysgenesis. It occurs in female subjects with a complete or partial absence of one of the two X chromosomes, in all or part of the cell clones. In this work, we report a study of five patient cases of Turner syndrome in which the diagnosis was confirmed by cytogenetics. The most frequent reason for consultation was failure to thrive (58.62% of cases). The age of discovery was between 5 and 10 years in 44.8% of cases, and the classic 45,X chromosome pattern was predominant, with a prevalence of 40% of cases. We then discussed our results.