Role of genetic and environmental factors in the development of polycystic ovary syndrome

2013 ◽  
Vol 154 (17) ◽  
pp. 650-657
Author(s):  
László Ságodi ◽  
Emőke Kiss-Tóth ◽  
László Barkai

Polycystic ovary syndrome is the most common heterogeneous endocrine abnormality in women in the reproductive age. The syndrome remains an enigmatic disorder because the aetiology is still unclear. Familial aggreagation is relatively common among patients with polycystic ovary syndrome suggesting a significant genetic component, although the way of inheritance has not been established firmly. The authors review the relevant medical literature and suggest that genetic and environmental factors play a role in the development of polycystic ovary syndrome. To date, no gene has been identified that causes or contributes substantially to the development of a polycystic ovary syndrome phenotype. Polycystic ovarian syndrome is considered to be an oligogenic disorder in which the interaction of a number of genetic and environmental factors determines the heterogeneous clinical and biochemical phenotype. To summarize current evidence the authors conclude, that when we are able to identify and then modify environmental determinants, then we will be able to safeguard better the health of those patients who are predisposed to disease development due to genotype or previous environmental effects. Orv. Hetil., 2013, 154, 650–657.

2021 ◽  
Vol 12 ◽  
pp. 204201882198923
Author(s):  
Mohammed Altigani Abdalla ◽  
Harshal Deshmukh ◽  
Stephen Atkin ◽  
Thozhukat Sathyapalan

Introduction: Polycystic ovary syndrome (PCOS) is a common endocrine disorder that affects women of reproductive age. Metabolic consequences associated with PCOS include, but are not limited to, insulin resistance (IR), type 2 diabetes mellitus (T2DM) and cardiovascular disease (CVD). This narrative review aims to provide a comprehensive overview of the potential therapeutic roles of the incretin-based therapies in the management of PCOS. Methods: We performed a systematic search of databases including PubMed, MEDLINE and EMBASE up to 1 October 2020. We developed a search string of medical subject headings (MeSH) including the terms PCOS, incretin mimetics, glucagon-like peptide-1 (GLP-1), glucagon-like peptide-1 receptor antagonists (GLP-1 RAs), liraglutide, exenatide, semaglutide, dipeptidyl peptidase-4 (DPP-4) inhibitors, combined with IR, testosterone and sex hormone-binding globulin (SHBG). Results: We identified 854 relevant articles and, after the initial screening, eight interventional animal studies, one observational animal study, 14 interventional human studies, two case–control studies and one systematic review were included. These studies showed the potential significant roles of GLP-1 RAs and DPP-4 inhibitors in the management of PCOS, with significant improvements in the metabolic parameters, including substantial weight reduction and improved insulin sensitivity. These agents also improved the hormonal parameters through decreased free androgen and increased SHBG. Moreover, they improved menstrual regularity, increased fertility with enhanced ovulation and pregnancy in obese women with PCOS. Conclusion: GLP-1 RAs and DPP-4 inhibitors have a promising therapeutic role in PCOS; however, larger clinical trials are needed to establish the role of incretin-based therapies in the management of PCOS.


Author(s):  
Sairish Ashraf ◽  
Mudasar Nabi ◽  
Shayaq ul Abeer Rasool ◽  
Fouzia Rashid ◽  
Shajrul Amin

Abstract Background Polycystic ovary syndrome (PCOS) is a multifactorial endocrine disorder characterized by anovulation, hyperandrogenism, and polycystic ovarian morphology. The pathophysiology of PCOS is not clear; however, disturbance in hypothalamic-pituitary-ovarian axis and abnormal steroidogenesis along with genetic and environmental factors act as main contributors to this disorder. Main text Hyperandrogenism, the hallmark feature of PCOS, is clinically manifested as hirsutism, acne, and alopecia. Excessive androgen production by ovaries as well as from adrenals contributes to hyperandrogenism. Abnormalities in the neuroendocrine system like increased pulse frequency of gonadotropin-releasing hormone, stimulating the pituitary for excessive production of luteinizing hormone than that of follicle-stimulating hormone is seen in PCOS women. Excess LH stimulates ovarian androgen production, whereas a relative deficit in FSH impairs follicular development. The imbalance in LH: FSH causes proliferation of ovarian theca cells leading to increased steroidogenesis, and ultimately leading to hyperandrogenism in PCOS women. Various genetic factors have been shown to be associated with abnormal steroidogenesis. CYP genes involved in steroidogenesis play an important role in androgen production and are considered as key players in hyperandrogenism in PCOS. Conclusion Polymorphisms in CYP genes can aggravate the hyperandrogenic phenotype in women with PCOS by either upregulating or downregulating their expression, thus increasing androgens further. However, this hypothesis needs to be validated by further studies.


GYNECOLOGY ◽  
2020 ◽  
Vol 22 (6) ◽  
pp. 84-89
Author(s):  
Tatiana A. Oboskalova ◽  
Anna V. Vorontsova ◽  
Maksim A. Zvychainyi ◽  
Karina G. Gushchina ◽  
Marietta M. Maitesian

We conducted an observational descriptive study evaluating the effectiveness of therapeutic modification of lifestyle with adding of 1000 mg of myo-inositol and 200 mg of D-chiro inositol combination (ratio 5:1) for nutritional support in 104 women of reproductive age with polycystic ovary syndrome (classic phenotype and nonclassical phenotypes in the presence of hyperandrogenism) for 6 months. Revealed changes in anthropometric parameters (decrease in body mass index by 0.89 kg/m2; p0.05 and waist circumference by 3.0 cm; p0.05), skin status (decrease in the incidence of acne from 96.2 up to 58.6%; p0.05 and seborrhea from 34.6 to 5.8%; p0.05), hormonal profile (statistically significant change in all studied parameters; p0.05: decrease in total testosterone to 1.27 nmol/L and a free androgen index up to 4.12% under an increase in globulin binding sex hormones), carbohydrate metabolism (normalization of glucose tolerance without the development of hypoglycemia) and restoration of menstrual cycle (MC) parameters (regular MC in 76.9 %; p0.05, MC duration 33.4 days; p0.05) indicate a significant role of stage I therapy in patients with polycystic ovary syndrome and the possible benefits of 1000 mg of myo-inositol and 200 mg of D-chiro inositol combination as a nutritional support.


Author(s):  
Sina Mojaverrostami ◽  
Narjes Asghari ◽  
Mahsa Khamisabadi ◽  
Heidar Heidari Khoei

Background: Polycystic ovary syndrome (PCOS) is a widespread endocrine disorder, affecting approximately 20% of women within reproductive age. It is associated with hyperandrogenism, obesity, menstrual irregularity, and anovulatory infertility. Melatonin is the main pineal gland hormone involved in the regulation of the circadian rhythm. In recent years, it has been observed that a reduction in melatonin levels of follicular fluid exists in PCOS patients. Melatonin receptors in the ovary and intra-follicular fluid adjust sex steroid secretion at different phases of ovarian follicular maturation. Moreover, melatonin is a strong antioxidant and an effective free radical scavenger, which protects ovarian follicles during follicular maturation. Objective: In this paper, we conducted a literature review and the summary of the current research on the role of melatonin in PCOS. Materials and Methods: Electronic databases including PubMed/MEDLINE, Web of Science, Scopus, and Reaxys were searched from their inception to October 2018 using the keywords ″Melatonin″ AND ″Polycystic ovary syndrome" OR "PCOS.″ Results: Based on the data included in our review, it was found that the administration of melatonin can improve the oocyte and embryo quality in PCOS patients. It may also have beneficial effects in correcting the hormonal alterations in PCOS patients. Conclusion: Since metabolic dysfunction is the major finding contributing to the initiation of PCOS, melatonin can hinder this process via its improving effects on metabolic functions. Key words: Hyperandrogenism, Infertility, Melatonin, PCOS.


Folia Medica ◽  
2018 ◽  
Vol 60 (4) ◽  
pp. 512-520 ◽  
Author(s):  
Panagiotis Chatzis ◽  
Konstantinos Tziomalos ◽  
Georgios C. Pratilas ◽  
Vasileios Makris ◽  
Alexandros Sotiriadis ◽  
...  

Abstract Polycystic ovary syndrome (PCOS) is the commonest endocrine disorder in women of reproductive age. Obesity is frequently present in these patients and plays a key role in the pathogenesis of both the endocrine and metabolic abnormalities of the syndrome, particularly infertility, hyperandrogenism and insulin resistance (IR). Diet and exercise is the mainstay of management of obesity in patients with PCOS. In contrast, the eff ects of antiobesity agents on weight and on the obesityrelated characteristics of the syndrome remain unclear. The aim of the present review is to summarize the current data on the eff ects of antiobesity drugs approved in Europe (orlistat, liraglutide 3 mg od and naltrexone/bupropion) on weight loss in patients with PCOS and to discuss their impact on the endocrine, reproductive and metabolic abnormalities of this population. Several studies reported that orlistat induces weight loss, improves IR and reduces androgen levels in PCOS. In contrast, data regarding the eff ects of the dose of liraglutide that is approved for the treatment of obesity (3 mg od) are very limited. Liraglutide 1.2-1.8 mg od results in weight loss in these patients but does not aff ect IR or androgen levels. Finally, there are no studies that evaluated naltrexone/bupropion in patients with PCOS and early studies reported conflicting results regarding the eff ects of naltrexone monotherapy on weight, IR and androgen levels. In conclusion, orlistat appears to have a role in the management of overweight and obese patients with PCOS whereas more studies are needed to clarify the role of liraglutide and naltrexone/bupropion.


2021 ◽  
Vol 2021 ◽  
pp. 1-12
Author(s):  
Yan Li ◽  
Lijia Zhang ◽  
Jinjin Gao ◽  
Jun Yan ◽  
Xue Feng ◽  
...  

Background. Polycystic ovary syndrome (PCOS) is one of the most common endocrine disorders among women of reproductive age. As a widely used complementary and alternative therapy, acupuncture is increasingly used to treat PCOS. However, the effect of acupuncture in treating PCOS is uncertain, and the mechanisms are unclear. This systematic review aims to determine the efficacy of acupuncture on PCOS in animal preclinical models. Methods. Experimental animal studies of acupuncture in PCOS animal models were searched in PubMed, Web of Science, China National Knowledge Infrastructure, and the Chinese Science and Technology Periodical Database from inception to December 2020. The risk of bias was assessed using the Systematic Review Centre for Laboratory Animal Experimentation (SYRCLE) risk of bias tool. Results. A total of 358 studies were screened based on the title and abstract, and 31 studies were included. A total of 722 animals were involved, and all studies used either Wistar rats or SD rats. Twenty-six studies used electroacupuncture, 9 studies used manual acupuncture, and 5 of them employed both electroacupuncture and manual acupuncture. A total of 22 acupoints were involved; 7 studies followed the modern acupuncture pattern, and the rest followed classic acupuncture theory. Conclusions. The present review summarizes the current evidence of the effects of acupuncture on PCOS in animal models. Unfortunately, we could not draw a definite conclusion due to the methodological weakness of the included studies and the high heterogeneity. Well-designed studies are needed in the future to fill this gap.


2016 ◽  
Vol 8 (9) ◽  
pp. 302 ◽  
Author(s):  
Farnaz Shishehgar ◽  
Fahimeh Ramezani Tehrani ◽  
Parvin Mirmiran ◽  
Sepideh Hajian ◽  
Ahmad Reza Baghestani ◽  
...  

<p>Polycystic Ovary syndrome (PCOS) is a complicated endocrinopathy affecting women in reproductive age. The crucial role of obesity and insulin resistance in progression of metabolic and cardiovascular features of PCOS has been confirmed. Although it has been suggested that there is a possible association between dietary pattern and risk of PCOS, few studies investigating the diet composition of PCOS women. The aim of this study was to compare the dietary intakes between women with polycystic ovary syndrome<strong> </strong>(PCOS) and eumenorrheic non hirsute women. This was a case control study of 142 women with PCOS and 140 eumenorrheic non hirsute healthy age and BMI matched controls. We compared the dietary intakes of our study group using a validated food frequency questionnaire (FFQ), using T<strong>-</strong>test or Mann-Whitney to compare the means of two groups. One way Anova was used to compare the tertiles of GI and GL in each group and a two way ANOVA was used to compare between tertiles of GI-GL and groups. The results demonstrated that energy and macronutrient intakes in PCOS women compared to controls were similar. PCOS group consumed more food items with high glycemic index (<em>p=</em>0.042) and less legumes <em>(P=</em>0.026) and vegetables (<em>p</em>=0.037) than controls. Both groups in the highest tertile of glycemic load (GL) had higher body mass index and waist circumference. Considering the results of this study, it was concluded that PCOS women had a dietary pattern that was characterized by a higher consumption of high GI food items and lower legumes and vegetables.</p>


Physiology ◽  
2017 ◽  
Vol 32 (5) ◽  
pp. 357-366 ◽  
Author(s):  
Licy L. Yanes Cardozo ◽  
Damian G. Romero ◽  
Jane F. Reckelhoff

Polycystic ovary syndrome (PCOS) is the most common endocrine disorder that affects reproductive-age women. Hyperandrogenemia is present in a significant fraction (~80%) of women with PCOS. Increased prevalence of cardiometabolic risk factors is frequently observed in PCOS women. The present review aims to highlight the key role of androgens in mediating the negative cardiometabolic profile observed in PCOS women.


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