Metabolic Dysfunction-associated Steatotic Liver Disease in Klinefelter Syndrome: High Prevalence Uncovers an Unmet Need
Authors' conclusion
This first study highlights substantial MASLD prevalence in patients with KS (45.1%). Metabolic syndrome is the major independent predictor of MASLD with a negative correlation between CAP and IGF-1. Early identification of MASLD is crucial to address the elevated risk of metabolic complications in this vulnerable population.
Study context
- Population
- Patients with Klinefelter syndrome (KS)46 with FibroScan/control attenuation parameter (CAP)
- Participants
- 82 patients
- Exposure
- MASLD vs non-MASLD
- Outcome
- Prevalence of MASLD in KS
Main finding
As reported in the abstract
Prevalence of MASLD
Prevalence of MASLD in KS
45.1%
Observational data: associations, not effects.
Further findings
| Outcome | P value |
|---|---|
| Characteristics of MASLD vs non-MASLDMASLD vs Non-MASLD · older with MASLD | P < 0.001 |
| Characteristics of MASLD vs non-MASLDMASLD vs Non-MASLD · higher with MASLD | P < 0.001 |
| Characteristics of MASLD vs non-MASLDMASLD vs Non-MASLD · higher with MASLD | P < 0.001 |
| Characteristics of MASLD vs non-MASLDMASLD vs Non-MASLD · greater with MASLD | P = 0.004 |
Predictors of MASLD (multivariable logistic regression)
- Metabolic syndrome was the only independent predictor of MASLD
FibroScan/CAP (subgroup of 46)
- Median liver stiffness (KPa)
- 4.7
- Median CAP value
- 244.0 ± 59.4 dB/m
Correlations of CAP
- Negative correlation of CAP with IGF-1
- P ≤ 0.001
- Positive correlation of CAP with TG
- P = 0.020
- Positive correlation of CAP with insulin resistance index
- P = 0.017
- Positive correlation of CAP with waist circumference
- P < 0.001
- Positive correlation of CAP with BMI
- P ≤ 0.001
Cardiovascular risk (Score2, Score2-Diabetes)
- No significant differences between MASLD and non-MASLD
Original publication
Metabolic Dysfunction-associated Steatotic Liver Disease in Klinefelter Syndrome: High Prevalence Uncovers an Unmet Need. J Clin Endocrinol Metab. Published 29 August 2025. doi:10.
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