Asunto(s)
Síndrome de Bloom , Enanismo , Secuenciación del Exoma/métodos , Hormona del Crecimiento/efectos adversos , RecQ Helicasas/genética , Síndrome de Bloom/diagnóstico , Síndrome de Bloom/genética , Síndrome de Bloom/fisiopatología , Síndrome de Bloom/terapia , Braquidactilia/diagnóstico , Braquidactilia/genética , Preescolar , Contraindicaciones de los Medicamentos , Diagnóstico Diferencial , Enanismo/diagnóstico , Enanismo/tratamiento farmacológico , Enanismo/genética , Femenino , Estudios de Asociación Genética , Gráficos de Crecimiento , Hormona del Crecimiento/uso terapéutico , Homocigoto , Humanos , Micrognatismo/diagnóstico , Micrognatismo/genética , Neoplasias/etiología , Neoplasias/prevención & control , Conducta de Reducción del Riesgo , Anomalías Cutáneas/diagnóstico , Anomalías Cutáneas/genéticaRESUMEN
Hyperthyroidism is rare in early childhood and most commonly caused by Graves' disease. We report 14 children (4 boys, 10 girls) aged 3.4-7.5 yr. At diagnosis, all patients had weight loss, hyperkinetic activity, tachycardia, difficulty sleeping, and poor concentration and 11 presented with proptosis. Four patients developed long-term neuropsychological problems. There was a family history in 7 cases. All patients had goiters, clinically assessed to be large and diffuse in 21%, medium-sized in 43%, and small in 36%. At diagnosis, height was increased with median (range) height; 1.25 standard deviation score (SDS) (-0.2-5.24) and body mass index (BMI) was decreased; -0.48 SDS (-1.65-1.26). Height and BMI SDS values were statistically different (p<0.032) Bone age was advanced in 4 of 5 children, who had assessments. Total or free T4 levels were elevated and TSH was undetectable. Ninety percent of patients (12/14) had positive thyroid peroxidase autoantibodies, mean level 680 IU/ml (range 50-1347). Initial treatment was with antithyroid medication using carbimazole; median dose 0.75 mg/kg/day (no.=13) or propylthiouracyl 15 mg/kg/day (no.=1). T4 was added in 6 patients. Normalisation of serum T4 occurred at 4 months (1- 9) and TSH at 7 months (3-24) after start of therapy. Treatment was discontinued after a minimum of 2 yr in 11 patients, relapse occurring in 9. Median duration of total therapy was 58 months (18-132). During adolescence, 4 patients had curative therapy by surgery (no.=2) or radioiodine (no.=2). In conclusion, disturbance of growth, behavioral difficulties and infrequent spontaneous remission are key features of Graves' disease in early childhood.