Features of TS encompass a wide phenotypic spectrum, of which the most common features are a short stature and premature ovarian insufficiency (POI). It is the most common sex chromosome disorder in females, occurring in 1 out of 2,500 live births. Turner syndrome (TS) is traditionally defined as a chromosomal disorder that affects phenotypic females who have one intact X chromosome and complete or partial absence of the second sex chromosome in association with one or more clinical manifestations. When counseling patients, the karyotype should strongly influence discussions regarding pubertal development and the future reproductive potential.
Conclusions: Rates of ST and SM differ by karyotype in TS. Key Messages: In total 2,699 patients were assessed for ST and 2,890 for SM from 43 articles. Data was collected regarding study design, cohort type, cohort age, the number of participants with ST and SM, the individual age at diagnosis of ST and SM, the mean age of patients with ST and SM, sample size, the number of participants with secondary amenorrhea, and karyotype. Studies reporting outcomes of ST and SM in girls with TS, diagnosed by genetic analysis, were included. We searched MEDLINE via PubMed, Embase, and the Cochrane Database of Controlled Trials.
Summary: We systematically reviewed the literature for evidence regarding rates of ST and SM in TS and evaluated rates based on the type of chromosomal mosaicism. Recent data show rates of spontaneous thelarche (ST) of 38% and spontaneous menarche (SM) of 15–16%, with higher rates in those with mosaicism. Background: Girls with Turner syndrome (TS) have a high incidence of primary ovarian insufficiency.