Klinefelter Syndrome in Metabolic Syndromes Cardiovascular and Autoimmune Disorders

Emir Behluli1#, Sherfki Xharra2#, Angelika Moder3, Hilada Nefic4, Rifat Hadziselimovic4 & Gazmend Temaj5*

1University of Pristina Medical Faculty, Pristina Kosovo
2Regional Hospital- Prizren, Sheh Emin, Prizren, Kosovo
3Johannes Kepler University of Linz, Center for Clinical Research Altenbergerstrasse, Linz, Austria
4Faculty of Science, University of Sarajevo, Sarajevo, Bosnia and Herzegovina
5Faculty of Pharmacy and Medicine, University for Business and Technology-American European University, Kalabria nn, Pristina, Kosovo

Dr. Gazmend Temaj, Faculty of Pharmacy and Medicine, University for Business and Technology-American European University, Kalabria nn, Prishtina, Kosovo.

Keywords: Klinefelter Syndrome; Metabolic Syndrome; Diabetes; Autoimmune Diseases; C-Reactive Protein


Klinefelter syndrome (KS) is found in infertile men. It was first described in 1942 when Klinefelter et al described 9 men with gynecomastia, small testes, azoospermia, and elevated gonadotropin levels [1]. In 1959, the discovery that a patient with KS had 47 chromosomes, including an extra X chromosome (the karyotype of 47,XXY), established that the Barr body seen in KS represents an additional X chromosome [2]. It is shown that the prevalence is from 3% up to 15% in azoospermic patients. The supernumerary X chromosome is derived from meiotic non-disjunction during gametogenesis of the parents; or from post-zygotic mitotic cell divisions during early embryogenesis. The patient chromosomal aberration such as 48,XXXY; 48,XXYY; 49,XXXXY; 49,XXXYY; 49,XXYYY; 49,XYYYY (chromosomal polysomy) has to be seen quite separate from patients with a 47,XXY karyotype. Some sex differences in human diseases are directly related with sex chromosome, for example male are more afflicted with X- linked diseases such as color blindness, DMD (Duschnene muscular dystrophy); women are protected from these recessive diseases, because they possess two X chromosome. Here we will discuss how the sex chromosome may influence factors that MS (metabolic syndrome) diabetes, autoimmune diseases, C-reactive protein, leptin adiponectin, thrombosis and hemostasis and dyslipidemia.

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