Klinefelter syndrome: cardiovascular abnormalities and metabolic disorders

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.

Klinefelter syndrome, insulin resistance, metabolic syndrome, and diabetes: review of literature and clinical perspectives

“…Data from recent large registry-based studies reported a significant increase in mortality risk by 40% (hazard ratio (HR) for all-cause mortality = 1.40; HR cardiovascular mortality = 1.41) [14] with a standardized mortality ratio (SMR) of 1.5 [15], corresponding to a significantly reduced median survival of 2.1 years. Patients with KS are more frequently insulin resistant, obese and prone to develop type 2 diabetes mellitus (T2D) [18,19], a condition considered a CVD equivalent. The onset of T2D in patients with KS is a turning point in worsening of the CVD risk profile.…”

Systemic effects of the hormonal treatment of male hypogonadism with preliminary indications for the management of COVID-19 patients

“… 32 In patients with low T levels, several studies have highlighted a higher prevalence of cardiovascular events. 33 , 34 In 2011, two meta-analyses were performed: the first included 70 studies with over 12,500 patients and showed that patients with CVD have significantly lower T and higher E2 levels than patients without CVD. This finding was confirmed by a logistic regression, after adjustment for age and BMI.…”

Nemi kromoszóma-rendellenességek vizsgálata gyermekkorban

“…Mindemellett fontos, hogy a nagyobb cardio-és cerebrovascularis, trombotikus, illetve metabolikus megbetegedési rizikó [31] mérséklése érdekében tartsuk szem előtt a minél korábbi prevenciót. Az X-kromoszóma-többlettel járó kórképben a centrális típusú elhízás és az ahhoz gyakran társuló anyagcserezavarok -mint a hyperlipidaemia, az inzulinrezisztencia, a csökkent glükóztolerancia, a kettes típusú cukorbetegség -kombinált terápiával megelőzhetők és gyógyíthatók.…”