Morbidity in Males With 45,X/46,XY Resembles the Morbidity Pattern in Turner Syndrome: A National Population-Based Study
Authors' conclusion
45,X/46,XY mosaicism in males impacts long-term health significantly. The morbidity pattern includes a wide range of diseases, most known to occur at increased frequencies in Turner syndrome. The study underscores the importance of identifying these males and following them with systematic screening as in Turner syndrome.
Study context
- Population
- All males in Denmark diagnosed with 45,X/46,XY mosaicism from 1960–2016; public uniform healthcare system
- Exposure
- Males with 45,X/46,XY vs age-matched males from the background population
- 45,X/46,XYn = 135
- Outcome
- Hospital diagnoses, prescribed medication and surgery codes (Cox proportional hazards, HRs)
Methodological detailsnational, age-matched controls 1:100
- National
- Age-matched controls 1:100
Main finding
As reported in the abstract
Overall morbidity
45,X/46,XY vs ControlsHazard ratio (CI)
Referral to hospital
1.6(1.3–1.9)
Undergoing surgery
1.8(1.4–2.2)
Prescribed medication
1.2(1.03–1.5)
- Increased risk in diagnostic groups
- 15/18
- Increased risk in medication groups
- 6/14
- Increased risk in surgery groups
- 10/16
Observational data: associations, not effects.
Further findings
Genitourinary morbidity in 45,X/46,XY males
- ≥1 genitourinary diagnosis
- 69/135
- Underwent urogenital surgery
- 39/135
Original publication
Morbidity in Males With 45,X/46,XY Resembles the Morbidity Pattern in Turner Syndrome: A National Population-Based Study. J Clin Endocrinol Metab. Published 8 January 2025. doi:10.
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