Klinefelter Syndrome in Metabolic Syndromes Cardiovascular and Autoimmune Disorders

Emir Behluli^1#, Sherfki Xharra^2#, Angelika Moder³, Hilada Nefic⁴, Rifat Hadziselimovic⁴ & Gazmend Temaj^5*

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

Abstract

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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