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Background Genetic factors might influence metabolic syndrome (MetS) or any of its components. It was postulated that low density lipoprotein receptor ( LDLR ) gene variants could play a role in cholesterol hemostasis and the development of MetS. However, the causal-effect relationship between such variants and the development of MetS is not clearly identified or even studied before in Saudi Arabian women. This study aims to identify the variants of LDLR exon-4 in Saudi Arabian women with MetS in comparison to healthy women and to assess the expected effect of amino acids alterations on the structure and functions of the LDLR proteins. A total of 208 female Saudi patients with MetS and 104 controls were included in the study. The exon 4 of LDLR gene was studied by DNA sequencing (Sanger) and structural analysis was performed using Project HOPE software. Results Four variants were identified; 2 were missense variants (2.4%; 5/208): (p.D172N and p.D178N) and 2 were nonsense variants (stop gained) (1.44%; 3/208): (p.E140* and p.L135*). Structural analysis of the expected effects of such variants revealed that they might disrupt their interactions with other proteins or biomolecules, additionally, the nonsense variants via expressing a stop codon, these will produce a truncated protein resulting in a defective function of LDL receptor. Conclusions Four variants in the LDLR gene, exon 4 (2 missense and 2 nonsense variants) have been identified and their expected structural effects were assessed in Saudi Arabian women with MetS in Makkah region.

High serum total testosterone is associated with metabolic syndrome (MS). This study aimed to identify possible alterations in total testosterone and their relationship with plasma glucose, blood pressure, and serum lipid profile. One hundred forty-two female subjects were selected to participate in this study, and they were recruited by consultant physicians from the Clinic and Medical Out-Patient, King Abdulaziz Hospital, Kingdom of Saudi Arabia. The anthropometric characteristics were obtained from questionnaires by using standard methods. Blood samples were obtained for the determination of glucose, triglycerides, total cholesterol, low-density lipoprotein, and high-density lipoprotein by using enzymatic methods. Total testosterone was determined by enzyme-linked immunosorbent assay for the quantitative measurement of testosterone in human serum. Significantly higher concentrations of total testosterone, low-density lipoprotein, and glucose, but lower concentrations of high-density lipoprotein, were observed in subjects with MS compared with women without MS ( <0.05). This study suggests that high levels of total testosterone and disturbance in lipid profile were associated with MS in Saudi women.