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Título
Turner syndrome: Study of 42 cases
Autor(es)
Fecha de publicación
2016-10-21
Citación
Bahíllo-Curieses MP, Prieto-Matos P, Quiroga González R, Regueras Santos L, Blanco Barrio A, Rupérez Peña S; Grupo de Endocrinología Pediátrica de Castilla y León. Síndrome de Turner: análisis de 42 casos [Turner syndrome: Study of 42 cases]. Med Clin (Barc). 2016 Oct 21;147(8):348-351
Resumen
Turner syndrome (TS) is characterized by short stature, gonadal dysgenesis, and total or partial loss of X chromosome.
A historical cohorts study of patients with TS≤18 years old followed up in public hospitals in Castilla y 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.
URI
ISSN
0025-7753
DOI
10.1016/j.medcli.2016.06.033
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