NR5A1 plays a central role in gonadal development and regulation by transcriptional regulation of key modulators involved in steroidogenesis. Mutations in human NR5A1 are frequently associated with 46,XY disorders of sex development (DSD). We analysed a Pakistani cohort of patients with 46,XY DSD, presenting with variable degrees of gonadal dysgenesis, for NR5A1 mutations. The study identified three mutations (p.Tyr03X, p.Glu07X and p.Gln299HisfsX386), of which two are novel, in these patients with 46,XY DSD. The mutations, p.Tyr03X and novel p.Glu07X, are located in the coding region of the gene, corresponding to DNA-binding domain of the predicted protein. In silico analysis for the novel homozygous p.Gln299HisfsX386 mutation in ligand-binding domain of NR5A1 revealed subtle changes in overall tertiary conformation which is predicted to affect the normal physiology of this mutant protein. This study reveals two novel mutations with altered NR5A1 protein in twenty patients with 46,XY DSD, highlighting the critical role of NR5A1 protein in gonadal development and differentiation. In conclusion, the current and previous studies suggest that the NR5A1 mutations are present in around 8-15% of patients with 46,XY DSD presenting with gonadal dysgenesis. For the clinical utility of NR5A1 gene mutations, more comprehensive studies with large 46,XY DSD patient series in different populations are suggested.

Objective: The hypothesis that body mass index and diet has direct influence on plasma lipids. The aims and objectives of present study were to highlight the relationship between, BMI, diet and components of lipid profile in male and female individuals. Study Design: This was a cross-sectional comparative study in which blood samples were collected from both male and female individuals. Place and Duration: Present study was conducted in medical units of Jinnah hospital Lahore, Services hospital Lahore and Bahawal Victoria hospital Bahawalpur from February 2022 to November 2022. Methodology: Total 500 individuals were divided into different groups such as Group-A with 100 normal individuals were control while in Group-B 100 male individuals of 30-45 years with low fat balanced diet, in Group-C 100 male individuals with fat rich imbalanced diet, in Group-D 100 female individuals of 30-45 years with low fat balanced diet whereas in Group-E 100 female individuals with fat rich imbalanced diet were selected and BMI, Cholesterol, Triglyceride, LDL and HDL levels were measured respectively. Results: The findings of present study indicated different levels of cholesterol, triglycerides, low density lipoproteins and high density lipoproteins with comparative significant (P≤0.05) changes in different groups as compared with control Group-A. A remarkable changes in cholesterol, triglycerides, LDL, HDL levels in Group-B and Group-C were seen (160.1±0.02, 112.1±0.01, 106.1±0.01, 40.1±0.01) (210.2±0.01, 152.1±0.02, 120.2±0.03, 37.4±0.01) respectively. While in Group-E as compared with Group-D the cholesterol, triglycerides, LDL, HDL levels (230.2±0.04, 192.1±0.02, 130.1±0.01, 42.1±0.02) (170.2±0.04, 112.1±0.02, 110.2±0.03, 50.4±0.01) were high as compared with the individuals of Group-D. Practical implication: The regular health awareness programs were not available for local population from health administration while lipid profile is directly proportional to the cardiac medical complications in all over the world. The main task of present study was to provide exact medical awareness to the people about diet related variations of cholesterol, triglycerides, LDL and HDL levels and ultimately it was concluded that dyslipidemia can occur in those with a normal BMI as well as those who are obese or overweight. Conclusion: The findings of current study were described that cholesterol, triglycerides, LDL and HDL levels have correlation with BMI and intake diet. Therefore comparative significant (P≤0.05) changes in fat rich imbalanced groups were seen as compared with low fat balanced diet groups. According to the findings of this study, dyslipidemia can occur in those with a normal BMI as well as those who are obese or overweight. Keywords: Body mass index, Cholesterol, Triglycerides, Low density lipoproteins, High density lipoproteins

Aims and objectives: Current study was designed to investigate the effects of two weight reducing drugs i.e. Slim Smart and Ultra-Slim Plus on kidneys and renal function. Experimental Study: This study was conducted in the Experimental Institute (Animal House) of The University of Lahore, Anatomy departments and Biochemistry department from November 2021 to May 2022. A total 25 adult male albino rat were collected and divided them into three different groups. Plain distilled water, Slim Smart and Ultra Slim plus were used in glass bottles. Under an anatomical microscope, the TA index was used to quantify interstitial fibrosis, glomerular hyalinization, vascular alterations, and tubular atrophy. Cell infiltration was computed as a percentage of inflammatory cells / HPF, and the cortical medulla ratio (C / M) was also calculated. SPSS version 20 was used to gather and analyze the raw data. One-way ANOVA was used to compare groups for quantitative variables such as renal cell infiltration. Group (mean ± standard) error was used for this analysis. Post-tacky tests were also used for cortical medullary ratios and (p< 0.05) was considered important. Results: Sections of Albino Rate kidney stained with H&E and PAS and examined histologically revealed mesangial cellular hypertrophy, thickened vascular walls, and lymphocyte infiltration. The results of group-A and group-C were significant but in group-B much inflammation was seen. A slightly significant changes (p< 0.05) were seen in serum creatinine and blood urea levels in different groups. Conclusion: Slim Smart and Ultra Slim Plus induce mesangial hyper cellularity and lymphocyte infiltration, as well as thickening of blood vessel walls. These alterations are consistent with interstitial nephritis, thus individuals with renal problems should use these medications with care. Keywords: Slim Smart, Ultra Slim Plus, Mesangial hyper cellularity, Lymphocyte infiltration, Nephrotoxicity

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Objectives: The Disorders of Sex Development are classified as 46, XY DSD,46, XX DSD and Chromosomal DSD according to the chromosomal constitution of the affectedpersons. 46, XY DSD is further classified into Androgen Synthetic Defect, Androgen InsensitivitySyndrome Gonadal Dysgenesis, 5-Alpha Reductase Deficiency, Persistent Mullerian DuctSyndrome and Isolated Hypospadias according to the pathophysiology of the disease. Theaim of present study was to classify 46, XY patients into their subclasses on the basis of theirhormonal profile and physical examination. Study Design: Observational descriptive study.Setting: Biochemistry Department University of Health Sciences for Karyotyping and Geneticassessment, and its allied institution Biochemistry Department Quaid-e-Azam Medical CollegeBahawalpur for hormonal analysis, along with Pediatric Medicine Departments of Quaid-e-AzamMedical College / Bahawal Victoria Hospital Bahawalpur for collection of Sample and clinicalassessments. Period: June 2015 to December 2015. Study Design: Observational descriptivestudy. Material and Methods: 53 patients with 46, XY DSD were recruited. Complete clinicalhistory and data of each patient was recorded in the research proforma. Genitals examinedfor the phallus length and size, position of urinary meatus, palpation of gonads and shape ofthe labioscrotal folds. Ultrasonography examination of each patient was performed to look forundescended testes and for the presence of either male or female internal reproductive organs.Results: Base line levels of serum Testosterone Dihydrotestosterone Luteinizing hormone,Follicle stimulating hormone, 17-OH-Progesteron and Anti-mullerian hormones were measuredby ELISA technique. Testosterone and DHT were measured again after hCG stimulation. Onthe basis of physical examination, ultrasonographic findings and hormonal profile diagnosisof the types of 46, XY DSD was possible in 27 (51%) of patients. Androgen synthesis defect asa cause of 46, XY DSD was diagnosed in 7(13%) patients, Androgen insensitivity syndrome in6(11%) patients, 5-Alpha reductase deficiency in 3(6%) patients, Gonadal Dysgenesis in 3 (6%),Persistent Mullerian Duct Syndrome in 3(6%) and Isolated Hypospadias in 2 (4%) patients.There were 26 (49%) patients which remain undiagnosed with the algorithm of diagnosis usedin the present study.