Aims Turner syndrome (TS) resulting from partial or complete X-chromosome monosomy in a phenotypical female is characterised predominantly by short stature, gonadal dysgenesis and a variety of other abnormalities. Given the wide-ranging phenotype, this audit evaluated trends in diagnosis and investigation of children with TS at presentation.
Methods Retrospective data analysis was carried out on patients with a diagnosis of TS registered on a regional paediatric endocrine database. Patient data (n=35) were analysed to evaluate trends in diagnosis and to audit clinical services. Performance of investigations following diagnosis was assessed against guidelines formulated by the TS Consensus Study Group.
Results Although there was a wide age-range from foetal life onwards, most children were diagnosed in infancy (median (range) age 0.04 years (14 weeks gestation to 16 years). Karyotype analysis revealed that 45,X individuals presented earlier than their mosaic counterparts (1.34 vs 4.14 years, p<0.05). Auxology demonstrated that later diagnosis corresponded with a larger height deficit at presentation (mean height SDS −1.8 in those diagnosed <10 years old vs −3.5 SDS in those >10 years, p<0.01). Service evaluation revealed good performance of auxology measurements (100%), evaluation of the cardiovascular (77%), renal systems (71%) and ovarian function (100%) at diagnosis. By contrast, fewer are referred for audiology (55%) and psychoeducational (18%) assessments.
Conclusions The majority of girls with TS are diagnosed in the perinatal period, though delayed diagnoses remain a significant clinical problem due to failure to appreciate the significance of mild phenotypic characteristics, such as the association of short stature with recurrent otitis media. Once a diagnosis is reached, referrals for audiology and psychoeducational assessment may be required, as hearing difficulties and psychosocial problems can reduce skills learning and hinder peer relationships. A life with TS is greatly impacted by both the number of problems endured and the time of diagnosis. Timely diagnosis is important to optimise final height and timing of puberty with treatment.