ABSTRACT
Objective To explore the etiology and clinical characteristics of short stature. Method Clinical data of 2075 children with short stature treated from May 1995 to July 2017 were retrospectively analyzed. The etiology and morbidity of pathological short stature and normal variant short stature were analyzed. The clinical characteristics of growth hormone deficiency (GHD) , idiopathic short stature (ISS) , constitutional delay in growth (CDG) and familial short stature (FSS) were analyzed. The etiological differences between severe short stature [height standard deviation score (SDS) ≤-3] and general short stature (height SDS＞-3) were analyzed. Results Among 2075 children diagnosed with short stature, 1719 (82.84％) were pathological short stature, among which GHD (38.60％) and ISS (22.02％) were more common. Normal variant short stature was found in 356 children (17.16％) , with FSS and CDG accounting for 10.70％ and 6.46％ respectively. There were statistically significant differences in the sex ratio, age at initial diagnosis, height SDS, body mass index (BMI) , bone age and bone age delay among children with four common childhood short stature (GHD, ISS, CDG and FSS) (all P＜0.01) . Boys were more than girls in four kinds of childhood short stature. The height SDS was the lowest in GHD group and the highest in CDG group; BMI was highest in GHD group, but lower in CDG and ISS group. Bone age delay was highest in GHD group and lowest in CDG group. In severe short stature group, the rates of complete GHD, multiple pituitary hormone deficiency, small for gestational age infant, Turner syndrome, hypothyroidism and Russell-Silver syndrome were higher than those in general short stature group, but the rates of partial GHD, ISS, FSS and CDG was lower than those in general short stature group. Conclusion The etiology of short stature is complex. Analysis of the etiology and clinical features is helpful for clinical diagnosis and treatment.
ABSTRACT
Se presenta un caso clínico de síndrome de Morquio o mucopolisacaridosis tipo IV, en una niña de 5 años que consulta al servicio de endocrinología pediátrica del Hospital Pablo Tabón Uribe, por talla baja y deformidades esqueléticas que iniciaron al año de edad. Inicialmente admitida con una impresión diagnóstica de raquitismo, pero al evaluar el caso en conjunto con el grupo de ortopedia infantil se confirma el diagnóstico por clínica, hallazgos radiológicos característicos y pruebas específicas para mucopolisacaridosis. Se revisan los principales aspectos clínicos y radiológicos de la enfermedad y el manejo actual.
We report a case of Morquio syndrome, or mucopolysaccharidosis type IV, in a girl of 5 years attending the pediatric endocrinology service at the Pablo Tobón Uribe Hospital, because of short stature and skeletal deformities that began in the first year of life. Initially admitted with a working diagnosis of raquitism, but reassessment of the case by the children's orthopedic group confirmed the diagnosis by clinical, specific serological tests and characteristical radiological findings specific for mucopolysaccharidosis. We review the clinical and radiological characteristics of the disease and current treatment options.