[Turner syndrome: Study of 42 cases]

Abstract

Background and objective: Turner syndrome (TS) is characterized by short stature, gonadal dysgenesis, and total or partial loss of X chromosome.

Patients and methods: A historical cohorts study of patients with TS≤18 years old followed up in public hospitals in Castilla y Leon was undertaken.

Results: Forty-two female patients were included (prenatal diagnosis 11.9%, neonatal diagnosis 14.3%) with current median age 11.9±4.2 years. Short stature was the reason for consultation in 87.1%. Total monosomy of X chromosome was present in 40.5%. The most frequently associated comorbidity was opthalmological (50%), with heart defects in 23.8%. Ninety-three percent were treated with growth hormone (GH), mean age at the beginning of treatment was 7.43±3.4 years and mean height standard deviation was -2.84±1.08. Final height was reached in 10 patients only (mean final height 151.47±6.09cm). Chronological age of puberty induction was 13.2±0.94 years (bone age 12.47±1.17 years).

Conclusions: Short stature was an important clinical sign for the diagnosis of TS, accompanied in some cases by other findings, with good response to GH treatment.

Keywords: Growth hormone; Hormona de crecimiento; Short stature; Síndrome de Turner; Talla baja; Turner syndrome.