Klinefelter syndrome: cardiovascular abnormalities and metabolic disorders
A E Calogero1, V A Giagulli2, L M Mongioì3
1Department of Clinical and Experimental Medicine, University of Catania, Policlinico "G. Rodolico", via S. Sofia 78, 95123, Catania, Italy. acaloger@unict.it.
Insights
Klinefelter syndrome (KS) increases risks for cardiovascular and metabolic disorders, including heart defects and type 2 diabetes. Testosterone replacement therapy may help some cardiovascular issues in KS patients.
Area of Science:
- Endocrinology
- Genetics
- Cardiology
Background:
- Klinefelter syndrome (KS) is a common genetic condition in males, linked to infertility, comorbidities, and reduced lifespan.
- KS is associated with significant health risks, necessitating a deeper understanding of its impact on cardiovascular and metabolic health.
Purpose of the Study:
- To review and analyze cardiovascular and metabolic disorders prevalent in Klinefelter syndrome patients.
- To explore the potential benefits of testosterone replacement therapy (TRT) on these associated conditions.
Main Methods:
- Systematic review of existing literature on Klinefelter syndrome.
- Analysis of standardized mortality ratios (SMR) and confidence intervals (CI) for various health outcomes.
- Examination of the effects of testosterone replacement therapy (TRT) on cardiovascular and metabolic parameters.
Main Results:
- KS patients exhibit increased risks for cerebrovascular disease (SMR 2.2), cardiovascular congenital anomalies (SMR 7.3), and thrombosis/leg ulcers (SMR 7.9).
- A higher probability of endocrine/metabolic diseases, including obesity, metabolic syndrome, and type 2 diabetes mellitus, is observed in KS individuals.
- Cardiovascular abnormalities may show partial improvement with TRT, though its effects on metabolic disorders remain unclear.
Conclusions:
- Klinefelter syndrome is associated with significant cardiovascular and metabolic morbidities.
- Testosterone replacement therapy shows promise for some cardiovascular complications but requires further investigation for metabolic effects.
Abstract:
Klinefelter syndrome (KS) is one of the most common genetic causes of male infertility. This condition is associated with much comorbidity and with a lower life expectancy. The aim of this review is to explore more in depth cardiovascular and metabolic disorders associated to KS. KS patients have an increased risk of cerebrovascular disease (standardized mortality ratio, SMR, 2.2; 95% confidence interval, CI, 1.6-3.0), but it is not clear whether the cause of the death is of thrombotic or hemorrhagic nature. Cardiovascular congenital anomalies (SMR, 7.3; 95% CI, 2.4-17.1) and the development of thrombosis or leg ulcers (SMR, 7.9; 95% CI, 2.9-17.2) are also more frequent in these subjects. Moreover, cardiovascular abnormalities may be at least partially reversed by testosterone replacement therapy (TRT). KS patients have also an increased probability of endocrine and/or metabolic disease, especially obesity, metabolic syndrome and type 2 diabetes mellitus. The effects of TRT on these abnormalities are not entirely clear.
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