Endocrine Abstracts

Introduction

Polycystic ovary syndrome (PCOS) is a common disorder that is not fully understood. Multiple hormonal and metabolic factors impact on disease pathophysiology resulting in various phenotypic characteristics among the PCOS population. Luteinizing hormone beta subunit (LHβ) (protein ID P01229) is mapped on (chr19p13.3) and consists of three exons. It is specific beta (β) subunit giving to LH from the anterior pituitary its specific function. LH has a central role in stimulation ovarian steroidogenesis, in particular androgen production, and the promotion of ovulation.

Objectives

To determine the biochemical changes and the genetic mutations associated with PCOS among Sudanese families.

Methods

A prospective laboratory based cross-sectional study to examine genetic mutations in LHβ that associated with PCOS in families (cases; n= (35) families, (90) females and controls; n = (11) families, (30) females in Khartoum State, Sudan. Quantitative Enzyme Linked Immuno-Sorbent Assay (ELISA), enzymatic methods and polymerase chain reaction (PCR) used to analyze both the biochemical parameters and polymorphism detection followed by Sanger sequencing for genotyping in addition to bioinformatics software for protein structure and function.

Results

Investigation of the biochemical parameters of PCOS cases revealed significant increase with (P-value <0.001) in LH, testosterone, total cholesterol (mmol/l) and LDL (mmol/l) as compared to control. While fasting glucose (mmol/l), insulin (ng/dl); triglycerides (mmol/l) and HDL (mmol/l) were statistically significant (P-value <0.02); (P-value <0.012); (P < 0.001); (P-value < 0.03) respectively. There were no differences in FSH (ng/dl): (P = 0.984) and prolactin (ng/dl): (P-value = 0.068) when compared to control group. Sanger sequencing revealed five SNPs (rs5030775, A18T (AA); rs746167425, R22K (AA); rs1800447, W28R (CC); rs35270001, H30R (A/G); and rs34349826, I35T (CC)) located on (exon 2) of LHβ gene that were statistically correlated with serum LH, testosterone and insulin levels among PCOS families.

Conclusion

Based on these findings, it can be concluded that there is a genetic inheritance mode of PCOS within the Sudanese families, and a direct relationship between PCOS and infertility problems, dyslipidemia, and insulin resistance among PCOS population.

Keywords: PCOS, Luteinizing hormone, SNPs, infertility.