Síndrome de Turner: um diagnóstico pediátrico frequentemente realizado por não pediatras

Abstract

Objective: To analyze the clinical features of patients with suspected diagnosis of Turner syndrome (TS) in a reference service. Methods: Retrospective analysis of 425 patients: data pertaining to age, height and pubertal stage at diagnosis, as well as the specialty of the physician who referred the patient were collected. Patients with and without TS were compared, as well as those with TS according to specialty of the physician; the correlation between age and height at diagnosis was analyzed. Results: TS diagnosis was made in 36.9% of the cases with a mean age of 12.0 years, and height z score = 3.09; pubertal delay was found in 71.4% of the 63 patients aged more than 13 years. When compared to the other patients, girls with TS had a higher height deficit and higher frequency of pubertal delay. TS patients referred by pediatricians were significantly younger (9.3 years vs. 15.4 years), but their height and frequency of pubertal delay were similar to those referred by non-pediatricians. There was a significant negative linear correlation between age and height in the total amount of patients with TS, but not among those referred by non-pediatricians. Conclusions: Mean age at TS diagnosis is still higher than that observed in developed countries, and the presence of spontaneous pubertal signs and/or less pronounced growth deficit in some cases may contribute to delayed clinical suspicion of TS. Information required for early TS diagnosis must be spread among pediatricians and non-pediatricians.

Clinical and cytogenetic characteristics of patients diagnosed with Turner syndrome in a clinical genetics service: cross-sectional retrospective study

“…10 Regarding the age at diagnosis, we found in our study that the average was higher than that of a Brazilian study carried out in São Paulo, in which the average was 12 years, and also higher than in studies conducted in Europe. [11][12][13] We can highlight that 40.7% of our sample was diagnosed at more than 13 years of age, which is in agreement with another study conducted in southeastern Brazil, which found that this proportion was up to 70%. 14 Thus, we found that the diagnosis of TS is being made late.…”