Clinical and cytogenetic characteristics of patients diagnosed with Turner syndrome in a clinical genetics service: cross-sectional retrospective study.
Mauricio Rouvel NunesTiago Godói PereiraHenry Victor Dutra CorreiaSimone Travi CanabarroAna Paula VanzPaulo Ricardo Gazzola ZenRafael Fabiano Machado RosaPublished in: Sao Paulo medical journal = Revista paulista de medicina (2021)
We found that, in general, patients with TS were being diagnosed late. This has important implications for their treatment. In addition, only a small proportion of the patients were undergoing further examination or evaluation, which appeared to be leading to underdiagnosis of many abnormalities.