From Klinefelter Syndrome to High Grade Aneuploidies: Expanding the Gene-dosage Effect of Supernumerary X Chromosomes
An erratum to this article was published (J Clin Endocrinol Metab, 12 Jul 2024 ↗)
Authors' conclusion
The increase in the number of extra-Xs is associated with a "dose-dependent" progressive impairment in steroid producing glands, thyroid function, cardiac structure, and performance.
Study context
- Population
- Subjects with high-grade aneuploidies of X and Y sex chromosomes (HGAs) and age-matched subjects with 47,XXY Klinefelter syndrome (KS)23 HGA, 46 KS
- Exposure
- Subjects with HGAs vs age-matched 47,XXY KS, by number of extra-Xs
- Outcome
- Clinical, hormonal, metabolic and echocardiographic features by number of extra-Xs
Methodological detailsage-matched, validation cohort pubertal stage-matched, Second cohort of 46 pubertal stage-matched KS subjects used for validation
- Age-matched
- Validation cohort pubertal stage-matched
- Second cohort of 46 pubertal stage-matched KS subjects used for validation
Main finding
As reported in the abstract
- More extra-Xs associated with progressive adverse effect on height, pubertal development, testicular volume and function, adrenal steroidogenesis and thyroid function
- Progressive linear increase in ACTH and decrease in cortisol/ACTH ratios
- Weight, BMI, Sertoli cell function, lipid profile and glucose tolerance post-OGTT worse in HGA vs KS
- Linear association with reduced left and right end-diastolic diameters and reduced ejection fraction
Observational data: associations, not effects.
Original publication
From Klinefelter Syndrome to High Grade Aneuploidies: Expanding the Gene-dosage Effect of Supernumerary X Chromosomes. J Clin Endocrinol Metab. Published 9 January 2024. doi:10.
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