Genetic and metabolic medicine
Turner syndrome
45,X and its variants, the 2024 international guideline on diagnosis, growth hormone, oestrogen replacement, aortic size index thresholds and pregnancy, and the lifelong screening adult physicians run.
Tier 1Condition
Written with AI assistance and fact-checked against the sources below. For exam study, not clinical decisions. How notes are made
At a glance
- Complete or partial loss of one X chromosome in a phenotypic female, about 1 in 2,000 to 2,500 live female births.
- Hallmarks: short stature and primary ovarian insufficiency. Intelligence is usually normal.
- Life expectancy is reduced by about 10 years, mostly from cardiovascular disease. Aortic dissection occurs at a young age and at smaller diameters, which is why the aorta is indexed to body size.
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Sources
- Gravholt CH, Andersen NH, Christin-Maitre S et al. Clinical practice guidelines for the care of girls and women with Turner syndrome. Eur J Endocrinol 2024;190(6):G53-G151International Turner Syndrome Consensus Group (European Society of Endocrinology and Pediatric Endocrine Society), 2024
- de Groote K et al. Management of cardiovascular health issues in Turner syndrome: expert insights and expanded recommendations from the 2024 guideline development team. Am J Med Genet C Semin Med Genet 2025American Journal of Medical Genetics Part C, 2025
- 2024 ESC Guidelines for the management of peripheral arterial and aortic diseasesEuropean Society of Cardiology (European Heart Journal, doi:10.1093/eurheartj/ehae179), 2024
- 2025 ESC Guidelines for the management of cardiovascular disease and pregnancyEuropean Society of Cardiology (European Heart Journal, doi:10.1093/eurheartj/ehaf193), 2025
- Turner Syndrome Association of AustraliaAU/NZTurner Syndrome Association of Australia
- Turner syndromeAU/NZhealthdirect Australia
- Last updated
- 14 November 2026
What changed
- 14 November 2026 Personal emails, About story and Australian-style copy