A comprehensive review of advances in clinical characterisation and multiomics of Turner syndrome (45,X and variants), covering epidemiology, diagnosis, multisystem morbidity, and current and emerging treatment strategies.
Turner syndrome affects ~1 in 2,000 female individuals; median age at diagnosis is 15 years, delaying timely treatment. Morbidity and mortality are elevated vs. the general population, with key burdens including short stature, hypergonadotropic hypogonadism, congenital heart disease, type 2 diabetes, and neurocognitive deficits. New multiomics data are beginning to inform novel treatment targets.
As a narrative review, it does not synthesise primary data with meta-analytic rigour. The median diagnostic age of 15 years reflects systemic delays that limit conclusions about optimal early-intervention outcomes. Multiomics findings discussed are largely exploratory and not yet validated in clinical trials.
Clinicians should pursue earlier diagnosis and initiate growth-promoting therapy in childhood and female sex hormone replacement from late childhood until at least average menopause age. A structured multidisciplinary team approach is essential to reduce the excess morbidity and mortality associated with Turner syndrome.
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