Clinical and cytogenetic features of 516 patients with suspected Turner syndrome – a single-center experience

Abstract Background: Clinical suspicion of Turner syndrome (TS) may be challenging. Short stature and absent puberty are not mandatory and the dysmorphic picture is widely variable. The aim of the study was to describe a representative sample of patients with suspected TS in a single center and to verify which set of features may help discriminate those with TS. Methods: This was a retrospective study of patients with suspected TS evaluated between 1989 and 2012 with the same clinical and cytogenetic protocols. Data regarding reason for referral, age and height at diagnosis, birth data, pubertal features and dysmorphisms were analyzed. Results: TS was diagnosed in 36% of 516 patients; structural chromosome anomalies predominated (42%). Short stature was the main reason for referral of patients with and without TS. The mean age of patients at first visit, with TS or without TS was similar (11.89 and 11.35 years, respectively), however, infants and adolescents predominated in the TS group. The mean full-term birth weight was lower in patients with TS as well as height at diagnosis, but normal height z-score was found in 17% of patients. Spontaneous puberty occurred in 30% of TS patients aged 13 years or more, but most had pubertal delay. Residual lymphedema, webbed neck, cubitus valgus, hyperconvex nails, shield chest, abnormal nipples, pigmented nevi, short fourth metacarpal and shorter height were the best discriminators for girls with TS. Conclusions: Though short stature, pubertal delay and typical stigmata should prompt investigation of TS, lack of one of these features should not exclude this hypothesis. Dysmorphisms other than those considered “typical” should be sought on physical examination.