Síndrome de Turner: análisis de 42 casos / Turner syndrome: Study of 42 cases

Antecedentes y objetivo: El síndrome de Turner (ST) se asocia con talla baja, disgenesia gonadal y monosomía parcial o total del cromosoma X. Pacientes y métodos: Se realizó un estudio de cohortes histórico de las pacientes con ST≤18 años seguidas en los hospitales públicos de Castilla y León. Resultados: Se registraron 42 pacientes (diagnóstico prenatal 11,9%, neonatal 14,3%) con una edad media actual de 11,9±4,2 años. La talla baja fue el motivo de consulta en el 87,1%. El 40,5% presentaban monosomía total del cromosoma X. La enfermedad asociada más frecuente fue la oftalmológica (50%), con problemas cardiacos en el 23,8%. El 93% reciben tratamiento congrowth hormone (GH, «hormona de crecimiento»), con una edad media al inicio de 7,43±3,4 años y una DE media de talla de −2,84±1,08. Solamente 10 pacientes han alcanzado talla final (talla media 151,47±6,09cm). La edad cronológica media de inducción puberal fue 13,2 años±0,94 años (edad ósea 12,47±1,17). Conclusiones: Uno de los datos clave para el diagnóstico fue la talla baja acompañada en algunos casos de otros hallazgos, siendo el tratamiento con GH efectivo (AU)

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) (AU)

[Turner syndrome: Study of 42 cases]. / Síndrome de Turner: análisis de 42 casos.

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.