scholarly journals Role of Single Nucleotide Variants in FSHR, GNRHR, ESR2 and LHCGR Genes in Adolescents with Polycystic Ovary Syndrome

Diagnostics ◽  
2021 ◽  
Vol 11 (12) ◽  
pp. 2327
Author(s):  
Lasma Lidaka ◽  
Laine Bekere ◽  
Adele Rota ◽  
Jekaterina Isakova ◽  
Gunta Lazdane ◽  
...  

Background: Polycystic ovary syndrome (PCOS) is the most common endocrinopathy in women, affecting up to 16.6% of reproductive-age women. PCOS symptoms in adolescents comprise oligomenorrhoea/amenorrhoea and biochemical and/or clinical hyperandrogenism. Long-term health risks of PCOS patients include infertility, metabolic syndrome, type 2 diabetes and cardiovascular disease. Genetic factors have been proven to play a role in development of the syndrome and its symptoms. Objective: To investigate single nucleotide variants (SNVs) in the GNRHR, ESR2, LHCGR and FSHR genes in adolescent patients with PCOS and their association with PCOS symptoms. Methods: We conducted a cross-sectional study comprising of 152 adolescents: 63 patients with PCOS, 22 patients at risk of developing PCOS and 67 healthy controls. Participants were recruited from out-patients attending a gynaecologist at the Children’s Clinical University Hospital, Riga, Latvia, between January 2017 and December 2020. Genomic DNA was extracted from whole blood, and SNVs in the GNRHR, ESR2, LHCGR and FSHR genes were genotyped. The distributions of SNV genotypes were compared among the three groups and genotype-phenotype associations within the PCOS group were evaluated. Results: No statistically significant differences were found in the distributions of genotypes for GNRHR (rs104893837), ESR2 (rs4986938), LHCGR (rs2293275) and FSHR (rs6166, rs6165, rs2349415) among PCOS patients, risk patients and healthy controls. Within the PCOS group, ESR2 rs4986938 minor allele homozygous patients had a significantly higher level of total testosterone than major allele homozygous patients and heterozygous patients. A significantly higher total testosterone level was also observed in PCOS patients carrying the LHCGR rs2293275 minor allele compared with major allele homozygous patients. Conclusions: The SNVs ESR2 rs4986938 and LHCGR rs2293275 play a role in the phenotypic characteristics of PCOS. To fully uncover their influence on the development of PCOS and its symptoms, further studies of larger cohorts and a follow up of this study sample through to adulthood are required. Furthermore, studies of adolescent PCOS patients conducted prior to the latest European Society of Human Reproduction and Embryology (ESHRE) criteria (2018) should be re-evaluated as the study groups might include risk patients according to these updated criteria, thereby potentially significantly impacting the published results.

2018 ◽  
Vol 37 (4) ◽  
pp. 448-455 ◽  
Author(s):  
Engy Bakeer ◽  
Rasha Radwan ◽  
Ahmed El Mandoury ◽  
Abdullah Abd El Rahman ◽  
Mohamed Gad ◽  
...  

Summary Background: Recent studies have highlighted the role of anti-Müllerian hormone (AMH) in numerous ovarian disorders. Polycystic Ovary Syndrome (PCOS) is one of the major causes of infertility in Egypt. Several reports have linked PCOS with vitamin D deficiency. This investigation illustrates the possibility of using serum AMH for PCOS diagnosis in infertile Egyptian females, determines the variables affecting it and correlates it with serum 25(OH)D, testosterone, dyslipidemia and anthropometric parameters. Methods: All parameters were assessed either with ELISA or colorimetrically in 53 infertile PCOS women and 17 age matched apparently healthy controls diagnosed according to Rotterdam consensus. Results: Serum AMH, total testosterone, triacylglycerol (TG) levels and BMI were significantly higher in PCOS group compared to healthy controls (p=0.0239, p=0.0381, p=0.0457, and p=0.0067, respectively), while serum 25(OH)D levels and HDL-cholesterol (HDL-C) were significantly lower (p=0.0397 and p=0.0443, respectively). No significant correlation existed between AMH and 25(OH) D, BMI and dyslipidemia markers. AMH was found to have a significant negative correlation with age and a highly significant positive one with total testosterone in PCOS group (r=-0.303, p=0.027 and r=0.370, p=0.008, respectively). In the receiver operating characteristic curve of AMH, the cut-off value was 42.63 pmol/L with a specificity of 59% and a sensitivity of 82%. Multivariate regression analysis showed total testosterone to be the only determinant for AMH (β=0.381 and p=0.038). Conclusions: There should be a future trend of using AMH as a diagnostic marker for PCOS in Egyptian females. The variation in serum AMH levels is determined by total testosterone.


Author(s):  
Gislaine Satyko Kogure ◽  
Victor Barbosa Ribeiro ◽  
Flávia Ganoa de Oliveira Gennaro ◽  
Rui Alberto Ferriani ◽  
Cristiana Libardi Miranda-Furtado ◽  
...  

Abstract Objective The present study aimed to investigate the physical performance of handgrip strength (HGS) in women with polycystic ovary syndrome (PCOS). Methods A case-control study that included 70 women with PCOS and 93 age-matched healthy women aged between 18 and 47 years with body mass index (BMI) between 18 Kg/m2–39.9 Kg/m2. The serum levels of total testosterone, androstenedione, insulin, estradiol, thyroid-stimulating hormone (TSH), prolactin, sex hormone-binding globulin (SHBG), and 17-hydroxyprogesterone (17-OHP) were measured. The free androgen index (FAI) and the homeostatic model assessment of insulin resistance (HOMA-IR) were calculated. The body composition regions of interest (ROIs) were assessed by dual-energy X-ray absorptiometry (DXA), and the handgrip strength (HGS) was evaluated for both the dominant and the non-dominant hands with a manual Sammons Preston (Bolingbrook, IL, US) bulb dynamometer. Results Women with PCOS had high serum levels of total testosterone (p < 0.01), androstenedione (p = 0.03), and insulin (p < 0.01), as well as high FAI (p < 0.01) and HOMA-IR (p = 0.01) scores. Compared with the non-PCOS group, the PCOS group had greater total lean mass in the dominant hand (p < 0.03) and greater HGS in both the dominant and the non-dominant hands (p < 0.01). The HGS was correlated with lean mass (p < 0.01). Conclusion Women with PCOS have greater HGS. This may be associated with age and BMI, and it may be related to lean mass. In addition, the dominance effect on muscle mass may influence the physical performance regarding HGS in women with PCOS.


Background: Polycystic ovary syndrome (PCOS) is a common heterogeneous endocrine disorder. Only few data are available in Bangladesh. The aim of this study was to find out the frequency of PCOS among the students of a medical college in Dhaka city. Materials & Methods: This cross sectional study was done among the 3rd to 5th year students of Ibrahim Medical College. We used Rotterdam criteria (Revised 2003) for diagnosis of PCOS. After taking written consent, a detailed history including menstrual history was taken. Anthropometric measurements including height in cm, weight in kg, waist circumference (WC) were measured. We assessed hyperandrogenism (H) clinically by hirsutism using a modified Ferriman-Gallway (mFG) method. The presence of acne and acanthosis nigricans was also noted. For biochemical hyperandrogenism we did total testosterone estimation. Blood samples was collected between 08.00 and 10.00 am on Days 2-7 of a spontaneous bleeding episode or randomly in the case of amenorrhea after an overnight fast. The circulating levels of total testosterone, levels were measured by Chemiluminescent Immunoassay (Advia Centaur XPTM). Transabdominal USG (Aloka F37) was done by expert radiologist of department of Radiology, BIRDEM. PCOS group was categorized in 4 different phenotypes based on the presence of oligo-anovulation (O), hyperandrogenism (H) and polycystic ovarian morphology (P) : (i) Phenotype A (O+ H+ P), (ii) Phenotype B (O+H), (iii) Phenotype C (H+P) and (iv) Phenotype D (O+P). Results: Out of 73 girls 27(37%) satisfied Rotterdam’s criteria for PCOS. Phenotype B was more common 16(59.3%) followed by A 5(18.5%) then C 3(11.1%) and D 3(11.1%). Hirsutism was found in 24 (88.8%) girls, menstrual disturbance was also present among 24 (88.8%) girls, serum testosterone was elevated in 6(22.2%) girls, 11(40.7%) had USG findings of polycystic ovaries. The mean BMI (24.70 + 3.7) was significantly high (BMI > 23 kg/ m2) among those who had PCOS (59.86%). Acne & acanthosis nigricans was observed 15(55.6%) & 6(22.2%) girls among PCOS respectively which were not statistically significant. Hypothyroidism was observed 7(25.9%) girls with PCOS. Associated family history of DM found in 21(77.8%) girls with PCOS. Family history of PCOS was present in 7(25.9%) girls in PCOS group. The difference were statistically significant (p<0.05) between two groups. Conclusion: Prevalence of PCOS is 37%, which demonstrates that PCOS is an emerging disorder. This draws attention to the issue of early diagnosis, which could provide opportunity to target the group to prevent future morbidities.


Author(s):  
Sitong Dong ◽  
Jiao jiao ◽  
Shuangshuo Jia ◽  
Gaoyu Li ◽  
Wei Zhang ◽  
...  

ObjectiveTo study the characteristics and relationship of the gut microbiota in patients with polycystic ovary syndrome (PCOS).MethodWe recruited 45 patients with PCOS and 37 healthy women from the Reproductive Department of Shengjing Hospital. We recorded their clinical indexes, and sequenced their fecal samples by 16S rDNA full-length assembly sequencing technology (16S-FAST).ResultWe found decreased α diversity and different abundances of a series of microbial species in patients with PCOS compared to healthy controls. We found LH and AMH were significantly increased in PCOS with Prevotella enterotype when compared to control women with Prevotella enterotype, while glucose and lipid metabolism level remained no significant difference, and situations were opposite in PCOS and control women with Bacteroides enterotype. Ruminococcus gnavus, Prevotella stercorea, Dialister succinatiphilus and Bacteroides fragilis were more abundant while Christensenellaceae spp. were less abundant in the PCOS group. P. stercorea was significantly more prevalent in PCOS-not insulin resistance (NIR) compared to control-NIR and PCOS-not overweight (NOW) patient groups compared to control-NOW groups. Kyoto Encyclopedia Genes and Genomes reflecting pathways related to lipopolysaccharide biosynthesis were more abundant in the PCOS group.ConclusionOur study found gut microbiota that had different abundance in patients with PCOS compared to healthy controls. An intimate relationship was shown between the gut microbiota and pathological changes in PCOS. We suggest the gut microbiota should be taken into consideration in the treatment of symptoms of PCOS via drugs and diet.


2006 ◽  
Vol 154 (4) ◽  
pp. 563-568 ◽  
Author(s):  
Elif Yesilada ◽  
Ibrahim Sahin ◽  
Hamdi Ozcan ◽  
Ibrahim Halil Yildirim ◽  
Saim Yologlu ◽  
...  

Objective: We aimed to assess possible genomic instability in women with polycystic ovary syndrome (PCOS). Design: The frequency of micronuclei in cultured peripheral lymphocytes was used as a biomarker of genomic instability in somatic cells. Methods: Nineteen women, diagnosed with PCOS and 19 healthy female volunteers of corresponding ages and body-mass index (BMI) were included in the study. Micronuclei frequencies were assessed in cytokinesis-blocked lymphocytes. Results: The frequency of micronucleated cells (per thousand) was 9.00 (5.00) (interquartile range in parentheses) for patient group and 3.0 (3.0) for the control group (P < 0.0001, Mann-Whitney U-test). The serum levels of follicle-stimulating hormone (FSH), estradiol, prolactin, glucose and dehydroepiandrosterone sulfate (DHEAS) and the homeostasis model of assessment of insulin resistance (HOMA-IR) were not different between the two groups (P > 0.05). Serum total testosterone, luteinizing hormone (LH) and insulin levels and hirsutism score in the PCOS group were significantly (P = 0.007, P < 0.0001, P = 0.009 and P < 0.0001 respectively) higher than those of the control group (2.3 (2.1) nmol/l vs 1.7 (0.4) nmol/l; 8.5 (5.88) mU/ml vs 4.8 (4.4) mU/ml; 6.8 (5.1) μU/ml vs 9.7 (4.2) μU/ml; 19.5 (6.5) vs 4.0 (2.5) respectively). However, the mean level of sex hormone-binding globulin (SHBG) in PCOS group was significantly (P = 0.004) lower than in control group (36.4(22.6) nmol/l vs 48.6(25.2) nmol/l respectively). Conclusion: These findings suggest that women with PCOS have a high incidence of genomic instability, and this condition is positively correlated with the hirsutism score, BMI, LH and serum total testosterone and insulin levels, and is negatively correlated with SHBG.


Author(s):  
Aesha Sh. Sh. Baban ◽  
Sabah H. Korsheed ◽  
Anas Y. Al Hayawi

Polycystic ovary syndrome (PCOS) is an endocrine disorder in women during fertilization age that reflects changing clinical symptoms. The genetic concept of PCOS is unclear and no significant genetic association with PCOS has been established. The level of Follicle stimulating hormone FSH is encoded by FSH receptor (FSHR) and abnormal FSHR affects follicle cogenesis and ovary and consist of 9 introns, 10 exons, and the region of chromosome promoter at 2p21. Sample of 93PCOS patients and 52 controls were collected from Province of Erbil in north of Iraq. Genomic DNA was extracted from the blood and genotype dissected was improved for the two population of study using PCR-RFLP with the restriction enzyme Eam1105I. The genotype distributions and allele frequency of Ala307Thr polymorphisms of FSHR were not statistically various between the controls and the PCOS patients. Significant elevation of body mass index with all genotype of PCOS was found when compared with controls. There were statistical differences in the BMI and most of the serum hormone and lipid profile parameters including LH, total testosterone, fasting glucose, Cholesterol, HDL and LDL, there were significant various in FSH and LH levels of hormones and HDL, LDL and VLDL with PCOS group conveying different genotypes of Ala307Thr polymorphisms. The variant of Ala307Thr was not associated with PCOS in Kurdistan women; there was no relationship between the POCS and gene of FSHR polymorphism at codons 307. There was a significant difference in FSH and LH levels with PCOS patients conveying different genotypes of Ala307Thr polymorphism.


2020 ◽  
Vol 18 (1) ◽  
Author(s):  
Anthicha Kunjantarachot ◽  
Noel Pabalan ◽  
Hamdi Jarjanazi ◽  
Denise Maria Christofolini ◽  
Erik Montagna ◽  
...  

Abstract Background Etiology of polycystic ovary syndrome (PCOS) is attributed to genetic and environmental factors. One environmental factor is oxidative stress. Paraoxonase 1 (PON1) is an antioxidant high-density lipoprotein-associated enzyme encoded by the PON1 gene. The PON1 gene has been implicated in the risk for PCOS, the influence of which appears to come from single nucleotide variants (SNVs) at multiple genetic loci. However, association study reports have been inconsistent which compels a meta-analysis to obtain more precise estimates. Methods From 12 publications, extracted genotype data were used in two genetic procedures. First, linkage disequilibrium (LD) was used to group eight PON SNVs into three: LD1, LD2 and LD3. Second, frequencies of the variant (var), wild-type (wt) and heterozygous (het) genotypes were used for genetic modeling (allele-genotype for LD1 and standard for LD2 and LD3). Risk associations were expressed in terms of pooled odds ratios (ORs), 95% confidence intervals (CIs) and Pa-values. Evidence was considered strong when significance was high (Pa < 0.0001) and heterogeneity absent (I2 = 0%). Pooled effects were subjected to modifier (power), subgroup (Asian/Caucasian), outlier, sensitivity and publication bias treatments. Multiple comparisons were Bonferroni-corrected. Results This meta-analysis generated 11 significant outcomes, five in LD1, six in LD2 and none in LD3. All six LD2 outcomes did not survive the Bonferroni-correction but two of the five in LD1 did. These two core LD1 findings conferred greater odds of PCOS to the var allele in the highly significant (Pa < 0.0001) overall (OR 1.44, 95% CI 1.24–1.67) and Asian (OR 1.41, 95% CI 1.20–1.65) outcomes. Of these two core outcomes, the Asian effect was homogeneous (I2 = 0%) but not the overall (I2 = 29%). Conclusions Of the eight PON SNVs examined, two (rs854560 and rs662) were associated with PCOS risk. These 1.4-fold increased risk effects rendered Asians susceptible to PCOS. High statistical power, high significance, zero to low-level heterogeneity, robustness and lack of bias in the core outcomes underpinned the strong evidence for association.


Author(s):  
Na Li ◽  
Yangyang Li ◽  
Chen Qian ◽  
Qing Liu ◽  
Wei Cao ◽  
...  

Significant differences in salivary microbiota communities between polycystic ovary syndrome (PCOS) patients and healthy controls have been reported, and interestingly, some salivary microbiota exhibit diurnal oscillation in healthy people. However, whether the diurnal oscillation of salivary microbiota is present in PCOS patients is unknown. In this study, we describe the differences in the saliva microbiome between the PCOS group and the control group at different time points over 24 h. 16S rRNA gene amplicon sequencing was performed on salivary and fecal samples from 10 PCOS patients and 10 healthy controls, and salivary samples were collected at 6-h intervals over 24 h (Zeitgeber (ZT)0, ZT6, ZT12, and ZT18). Among the salivary samples, those from the PCOS group showed significant differences from those of the control group at each time point. Differences were evident in taxa level and metabolic pathways. Interestingly, we found that PCOS disrupted the diurnal rhythm of the salivary microbiota abundance, as determined in the group of healthy women. In addition, no similar changes were found in PCOS patients and controls between the oral and fecal microbiota, including differential microbiota at the phylum level. In this study, significant differences in the composition of the salivary microbiota between PCOS and healthy women were detected at different time points. We also showed that the diurnal rhythm of relative abundance of the salivary microbiota was disrupted in patients with PCOS, which might be related to development of oral-related diseases and systematic metabolic disorders.


2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Wei Gong ◽  
Aikmu Bilixzi ◽  
Xinmei Wang ◽  
Yanli Lu ◽  
Li Wan ◽  
...  

Abstract Background It’s necessary to investigate the serum β-trophin and endostatin (ES) level and its influencing factors in patients with newly diagnosed polycystic ovary syndrome (PCOS). Methods Newly diagnosed PCOS patients treated in our hospital were selected, and healthy women who took physical examination during the same period as healthy controls. We detected and compared the related serum indicators between two groups, Pearson correlation were conducted to identify the factors associated with β-trophin and ES, and the influencing factors of β-trophin and ES were analyzed by logistic regression. Results A total of 62 PCOS patients and 65 healthy controls were included. The BMI, WHI, LH, FSH, TT, FAI, FBG, FINS, HOMA-IR, TC, TG, LDL, ES in PCOS patients were significantly higher than that of healthy controls, while the SHBG and HDL in PCOS patients were significantly lower than that of healthy controls (all p < 0.05). β-trophin was closely associated with BMI (r = 0.427), WHR (r = 0.504), FBG (r = 0.385), TG (r = 0.405) and LDL (r = 0.302, all p < 0.05), and ES was closely associated with BMI (r = 0.358), WHR (r = 0.421), FBG (r = 0.343), TC (r = 0.319), TG (r = 0.404, all p < 0.05). TG, BMI, WHR and FBG were the main factors affecting the serum β-trophin levels (all p < 0.05). FBG, TC and BMI were the main factors affecting the serum ES levels (all p < 0.05). The TG, β-trophin, ES level in PCOS patients with insulin resistance (IR) were significantly higher than that of those without IR (all p < 0.05). Conclusion Increased β-trophin is closely associated with increased ES in patients with PCOS, which may be the useful indicators for the management of PCOS.


Nutrients ◽  
2021 ◽  
Vol 13 (8) ◽  
pp. 2494
Author(s):  
Małgorzata Kałużna ◽  
Magdalena Czlapka-Matyasik ◽  
Aleksandra Bykowska-Derda ◽  
Jerzy Moczko ◽  
Marek Ruchala ◽  
...  

Visceral adipose tissue (VAT) accumulation, is a part of a polycystic ovary syndrome (PCOS) phenotype. Dual-energy x-ray absorptiometry (DXA) provides a gold standard measurement of VAT. This study aimed to compare ten different indirect methods of VAT estimation in PCOS women. The study included 154 PCOS and 68 age- and BMI-matched control women. Subjects were divided into age groups: 18–30 y.o. and 30–40 y.o. Analysis included: body mass index (BMI), waist circumference (WC), waist-to-hip ratio (WHR), waist-to-height ratio (WHtR), waist/height 0.5 (WHT.5R), visceral adipose index (VAI), lipid accumulation product (LAP), and fat mass index (FMI). VAT accumulation, android-to-gynoid ratio (A/G), and total body fat (TBF) was measured by DXA. ROC analysis revealed that WHtR, WHT.5R, WC, BMI, and LAP demonstrated the highest predictive value in identifying VAT in the PCOS group. Lower cut-off values of BMI (23.43 kg/m2) and WHtR (0.45) were determined in the younger PCOS group and higher thresholds of WHtR (0.52) in the older PCOS group than commonly used. Measuring either: WHtR, WHT.5R, WC, BMI, or LAP, could help identify a subgroup of PCOS patients at high cardiometabolic risk. The current observations reinforce the importance of using special cut-offs to identify VAT, dependent on age and PCOS presence.


Sign in / Sign up

Export Citation Format

Share Document