1. Klinefelter syndrome: cardiovascular abnormalities and metabolic disorders
- Author
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Calogero, Ae, Giagulli, Va, Mongioì, Lm, Triggiani, V, Radicioni, Af, Jannini, Ea, Pasquali, D, Klinefelter ItaliaN Group KING: Balercia, G, Bonomi, M, Corona, G, Fabbri, A, Ferlin, Alberto, Francavilla, F, Giagulli, V, Lanfranco, F, Maggi, M, Pivonello, R, Pizzocaro, A, Radicioni, A, Rochira, V, Vignozzi, L, Accardo, G, Cangiano, B, Condorelli, Ra, Cordeschi, G, D'Andrea, S, Di Mambro, A, Esposito, D, Foresta, Carlo, Francavilla, S, Galdiero, M, Garolla, Andrea, Giovannini, L, Granata, Ar, La Vignera, S, Motta, G, Negri, L, Pelliccione, F, Persani, L, Salzano, C, Santi, D, Selice, R, Simoni, M, Tatone, C, Tirabassi, G, Tresoldi, As, Vicari, E., Calogero, A. E, Giagulli, V. A, Mongioì, L. M, Triggiani, V, Radicioni, A. F, Jannini, E. A, and Pasquali, Daniela
- Subjects
medicine.medical_specialty ,Endocrinology, Diabetes and Metabolism ,Cardiovascular Abnormalities ,Hypergonadotropic hypogonadism ,030209 endocrinology & metabolism ,Cardiovascular disease ,Chromosome abnormalities ,Klinefelter syndrome ,Metabolism ,Testosterone ,Humans ,Klinefelter Syndrome ,Metabolic Syndrome ,Risk Factors ,Male infertility ,03 medical and health sciences ,0302 clinical medicine ,Endocrinology ,Internal medicine ,medicine ,Chromosome abnormalitie ,030219 obstetrics & reproductive medicine ,business.industry ,Type 2 Diabetes Mellitus ,medicine.disease ,Comorbidity ,Obesity ,Standardized mortality ratio ,Metabolic syndrome ,business - 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. Purpose: The prevalence and the etiopathogenesis of thyroid dysfunctions in Klinefelter syndrome (KS) are still unclear. The primary aim of this study was to evaluate the pathogenetic role of hypogonadism in the thyroid disorders described in KS, with the scope to distinguish between patients with KS and hypogonadism due to other causes (Kallmann syndrome, idiopathic hypogonadotropic hypogonadism, iatrogenic hypogonadism and acquired hypogonadotropic hypogonadism after surgical removal of pituitary adenomas) called non-KS. Therefore, we evaluated thyroid function in KS and in non-KS hypogonadal patients. Methods: This is a case–control multicentre study from KING group: Endocrinology clinics in university-affiliated medical centres. One hundred and seventy four KS, and sixty-two non-KS hypogonadal men were enrolled. The primary outcome was the prevalence of thyroid diseases in KS and in non-KS. Changes in hormonal parameters were evaluated. Exclusion criterion was secondary hypothyroidism. Analyses were performed using Student’s t test. Mann–Whitney test and Chi-square test. Results: FT4 was significantly lower in KS vs non-KS. KS and non-KS presented similar TSH and testosterone levels. Hashimoto’s thyroiditis (HT) was diagnosed in 7% of KS. Five KS developed hypothyroidism. The ratio FT3/FT4 was similar in both groups. TSH index was 1.9 in KS and 2.3 in non-KS. Adjustment for differences in age, sample size and concomitant disease in multivariate models did not alter the results. Conclusions: We demonstrated in KS no etiopathogenic link to hypogonadism or change in the set point of thyrotrophic control in the altered FT4 production. The prevalence of HT in KS was similar to normal male population, showing absence of increased risk of HT associated with the XXY karyotype.
- Published
- 2017