The impact of testosterone treatment on quality of life in patients with KS has not been investigated sufficiently. While additional studies with large samples sizes are needed, there is no clear evidence suggesting that testosterone treatment should be withheld in hypogonadal individuals due to the risk of thrombosis. Available studies have mainly focused on the risk of myocardial infarction in the setting of testosterone supplementation, but registry data from UK have also indicated a potential increased risk of venous thromboembolisms 3–6 months after initiation of testosterone treatment in hypogonadal men (Martinez et al., 2016). Most find no effect of testosterone treatment on levels of total cholesterol or LDL cholesterol while two cross-sectional studies report higher triglycerides in treated KS (Chang et al., 2015; Jorgensen et al., 2015) and four cross-sectional studies reporting decreased HDL in treated KS (Aksglaede et al., 2011; Chang et al., 2015; Jorgensen et al., 2015; Zitzmann et al., 2015).
We recently assessed the effect of testosterone treatment on thrombotic risk in KS applying data from several Danish registries, and did not find any significant effect of testosterone treatment on rates of either venous thromboembolism or arterial thrombosis (Chang, Christiansen, et al., 2019). We believe, as mentioned above, that this is a reflection of a higher standard of care in those men receiving testosterone treatment making them more likely to receive appropriate antihypertensive treatment and therefore have a lower risk of hypertension-related complications compared with men with KS who may not be receiving appropriate medical care. To this end, a recent cross-sectional study found indications that testosterone treatment in KS could reduce epicardial fat, a novel marker of cardiovascular risk (Granato et al., 2019). Testosterone treatment does seem to improve body composition based on these limited studies; however, given the anabolic effects of androgen, it is possible that the effects on body composition seen in these studies of boys and men with KS are not unique to individuals with KS.
Building on their pilot, the current research hypothesized that testosterone injections during the mini puberty period would offer short-term physical, hormonal and neurodevelopmental benefits to infants with XXY. Clinical features of XXY may be attributed to inadequate testosterone during this "mini-puberty" period of infancy. Hallmarks of XXY include impaired testicular function, infertility and differences in physical growth, metabolism and neurodevelopment, leading to increased morbidity and mortality. As cell-free DNA screening during pregnancy becomes standard, clinicians are increasingly identifying sex chromosome aneuploidies (variations) in infants.
This trend emphasizes the development of individualized treatment strategies that align therapeutic interventions with the specific symptoms and comorbidities of patients. When clinicians are not well-versed in the syndrome's symptoms or treatment strategies, they may overlook opportunities for appropriate care, often resulting in conservative management options. All possible parameters that affect the markets covered in this research study have been accounted for, viewed in extensive detail, verified through primary research, and analyzed to get the final quantitative and qualitative data. The growing diagnosis and awareness of Klinefelter syndrome are significantly driving the therapeutics market, increasing the demand for endocrine, fertility, and neurodevelopmental treatments. From the onset of puberty, the existing testosterone deficiency can be compensated by appropriate hormone-replacement therapy. The lifespan of individuals with Klinefelter syndrome appears to be reduced by around 2.1 years compared to the general male population.
For data regarding neurocognitive function in individuals with KS, refer to the dedicated review presented in this same journal issue covering this topic. Although the additional X chromosome has global implications, one of the consequences of KS is testicular dysfunction resulting in hypergonadotropic hypogonadism. Taking care of boys and men with Klinefelter syndrome (KS; 47,XXY) presents itself with a number of challenges. We stress the implementation of centralized multidisciplinary clinics and the need for a dedicated international guideline to ensure optimal care of boys and men with KS. "Gender-affirming care is just not for transgender youth. This will affect cisgender children like Theodore," she says.
Of note, testosterone levels in one study were increased more than 20% in the treated versus nontreated group (Pasquali et al., 2013), while testosterone levels between treated and untreated men with KS did not differ significantly in the other study (Bojesen, Kristensen, et al., 2006), speaking against clinically relevant direct association between testosterone levels and insulin sensitivity in KS. Similarly, insulin sensitivity by HOMA based on fasting levels of insulin and glucose was not different in two cross-sectional studies comparing untreated and testosterone-treated men with KS (Bojesen, Kristensen, et al., 2006; Pasquali et al., 2013). Furthermore, cross-sectional data have demonstrated reduced Homeostatic Model Assessment for Insulin Resistance (HOMA-IR) among 97 testosterone-treated men compared with 35 untreated men with KS (Zitzmann et al., 2015). As already mentioned, metabolic syndrome and diabetes lead to increased morbidity for many men with KS, therefore glucose metabolism and insulin resistance are outcomes of interest with testosterone treatment.
As such, adherence to testosterone treatment could have a secondary effect on risk of diabetes and diabetes control and by that potentially quality of life and mortality. As an example, the effects of testosterone treatment on metabolism seem to be more pronounced in men with idiopathic hypogonadotropic hypogonadism compared with men with KS (Jiang-Feng et al., 2012), although direct head-to-head studies comparing similar dose and duration of testosterone replacement therapy in males with KS and other groups of hypogonadal men have not been performed. Despite the apparent need to treat hypogonadism with testosterone in individuals with KS, there are relatively few studies directly addressing the health effects of treatment, and most of these studies are cross-sectional or uncontrolled longitudinal studies. There are no widely implemented guidelines for KS care, and studies investigating crucial aspects of testosterone treatment in individuals with KS, including both beneficial and potentially adverse effects, have only begun to emerge during the last decades. The condition leads to hypergonadotropic hypogonadism and ever since the condition was described approximately 80 years ago, testosterone treatment has been the cornerstone in care for individuals with KS. In this retrospective epidemiological study, we found that men with a diagnosis of KS are undertreated with TRT despite the recommendation for lifelong testosterone replacement after puberty in this population.

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