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Turner syndrome (TS) is a disorder of phenotypic females who have one intact X chromosome and complete or partial absence of their second sex chromosome. This results in a constellation of features that includes—but is not limited to: lymphedema, cardiac anomalies, short stature, primary ovarian failure, and neurocognitive difficulties, as the most important ones. Traditionally, TS implied the presence of physical characteristics, such as a typical facial appearance and neck webbing. However, the clinical manifestations of TS should be viewed more broadly to include other features, such as growth failure, pubertal delay, sensorineural hearing loss, and specific cardiovascular, liver, and renal anomalies, as well as a particular neurodevelopmental profile.
The diagnosis of Turner syndrome should be considered in any female with unexplained growth failure or pubertal delay or any constellation of the following clinical findings: edema of the hands and feet, nuchal folds, left-sided cardiac anomalies, low hairline, low-set ears, small mandible, short stature, markedly elevated FSH levels, cubitus valgus, nail hypoplasia, hyperconvex uplifted nails, multiple nevi, characteristic facies, short fourth metacarpal, high-arched palate, and chronic otitis media.61 Newborn screening underdiagnosis and delayed diagnosis remain a problem.99 PCR-based screening methods to detect sex chromosome aneuploidy are feasible but have not been validated on a newborn population sample.