Delayed diagnosis of turner,s Syndrome:A problem in treatment of short stature

Document Type: Original Article


Associate professor


Average age at dianogsis,clinical features,and karyotype analysis of 40 girls with turner,s Syndrome (TS) were studied.the medical records of 40 girls with TS were reviewed for age at dianogsis.clinical features,karyotype analysis and erasons of admission in pediatric endocrinology ward.although lymphedema is the key to diagnosis in newborn period,none of the cases were diagnosed in infancy.the average age at diagnosis were 13.4 years.all of the cases admitted for evaluation of short stature,and 14 of them had delayed puberty too.50 percent of the patients had a choromosomal constitution 45X,22.5% were mosaic,15%isochromosom and the remaining 12.5% had other karyotypes.the diagnosis of TS is often delayed and this deranged the appropriate treatment of short stature.we recommend cytogenetic analysis  of all girls with lymphedema,unexplained short stature,webbed neck,short neck,low posterior hairline and multiple nevi.