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Inicio Medicina Clínica (English Edition) Turner syndrome: Study of 42 cases
Journal Information
Vol. 147. Issue 8.
Pages 348-351 (October 2016)
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Vol. 147. Issue 8.
Pages 348-351 (October 2016)
Clinical report
Turner syndrome: Study of 42 cases
Síndrome de Turner: análisis de 42 casos
M. Pilar Bahíllo-Curiesesa,
Corresponding author

Corresponding author.
, Pablo Prieto-Matosb, Rocío Quiroga Gonzálezc, Laura Regueras Santosc, Amaya Blanco Barriod, Sara Rupérez Peñae, Pediatric Endocrinology Group of Castille and Leon
a Hospital Clínico Universitario de Valladolid, Valladolid, Spain
b Hospital Universitario de Salamanca, Instituto de Investigación Biomédica de Salamanca, Salamanca, Spain
c Complejo Asistencial Universitario de León, León, Spain
d Complejo Asistencial Universitario de Burgos, Burgos, Spain
e Complejo Asistencial de Ávila, Ávila, Spain
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Tables (2)
Table 1. Patients’ karyotypes.
Table 2. Patient characteristics depending on karyotype.
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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 TS18 years old followed up in public hospitals in Castilla and Leon was undertaken.


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).


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.

Turner syndrome
Short stature
Growth hormone
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 ST18 años seguidas en los hospitales públicos de Castilla y León.


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 con growth 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).


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.

Palabras clave:
Síndrome de Turner
Talla baja
Hormona de crecimiento


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