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

Average age at dianogsis,clinical features,and karyotype analysis of ۴۰ girls with turner,s Syndrome (TS) were studied.the medical records of ۴۰ 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 ۱۳.۴ years.all of the cases admitted for evaluation of short stature,and ۱۴ of them had delayed puberty too.۵۰ percent of the patients had a choromosomal constitution ۴۵X,۲۲.۵% were mosaic,۱۵%isochromosom and the remaining ۱۲.۵% 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.

Keywords:

turner , s Syndrome , Short Stature , Growth hormone therapy