A Systematic Review and Meta-Analysis of the Birth Prevalence of Turner Syndrome

Turner syndrome, a chromosomal disorder, causes short stature, pubertal arrest, amenorrhea, and infertility in females. Prevalence estimates vary widely; however, reliable estimates are important for public health initiatives. Therefore, a meta-analysis was undertaken. From a total of 875 English-language studies identified for full-text screening in MEDLINE and Embase by two independent researchers using predefined criteria, data were extracted from 28 studies, which were also evaluated for quality; 19 and 8 were selected for the birth and point/period prevalence meta-analyses, respectively (three studies common to both). A random-effects model was used to calculate a pooled effect size. Heterogeneity was measured using Cochran's Q, Higgins I ², Tau-squared, and Tau. The birth prevalence meta-analysis yielded a pooled estimate of 31.5 (95% CI: 18.2-54.7) per 100,000 female live births. Studies from Europe (compared to Asia) and those with a lifetime case ascertainment period (compared to first year) reported significantly higher birth prevalence. Meta-regression analysis indicated that studies with lifetime case ascertainment had 2.69 times higher prevalence. Case ascertainment period, diagnostic method, and geography accounted for ~90% of the variation in the birth prevalence estimates across studies. The pooled estimate of point/period prevalence was 23.1 (95% CI: 11.4-46.8) per 100,000 females.