Search Results (755)

Objective: This study aims to investigate the potential role of vasorin as a novel biomarker in the pathogenesis of polycystic ovary syndrome (PCOS) by evaluating serum vasorin levels in women diagnosed with PCOS. Methods: A prospective study was conducted at Düzce University Faculty of Medicine between March and July 2024, including 92 women with PCOS, diagnosed based on the 2003 Rotterdam criteria, and 68 age- and BMI-matched healthy controls. Serum vasorin levels were measured using an enzyme-linked immunosorbent assay (ELISA) and compared between the two groups. Additionally, correlations between vasorin levels and metabolic, inflammatory, and hormonal parameters were analyzed. Results: Women with PCOS had significantly lower serum vasorin levels (median: 0.70 pg/mL) compared to the control group (median: 2.36 pg/mL, p < 0.001). No significant correlation was found between vasorin and metabolic or hormonal parameters in the PCOS group. However, a weak positive correlation with prolactin was observed in the control group (r = 0.264, p = 0.030). Although vasorin is involved in inflammatory and oxidative-stress pathways, its association with insulin resistance and lipid metabolism remains unclear based on this study. Receiver Operating Characteristic (ROC) curve analysis demonstrated a high diagnostic performance for vasorin in distinguishing PCOS from healthy individuals (AUC = 0.918, p < 0.001, 95% CI: 0.869–0.967). The optimal cutoff value for vasorin (1.285 pg/mL) yielded 92.6% sensitivity and 87.0% specificity. Conclusions: These findings suggest that vasorin may serve as a promising biomarker for PCOS, potentially linking hormonal dysregulation, inflammatory responses, and ovarian dysfunction. However, further validation is required through longitudinal studies, multi-center cohorts, and mechanistic investigations. Additionally, comparative assessments with established biomarkers such as anti-Müllerian hormone (AMH) and androgen levels are warranted to determine vasorin’s diagnostic and prognostic utility in clinical practice. Full article

Oral cavity dysbiosis is associated with numerous inflammatory diseases, including diabetes, inflammatory bowel diseases, and periodontal disease. Changes in the oral microenvironment lead to bidirectional interactions between pathogens and individual host systems, which may induce systemic inflammation. There is increasing evidence linking the condition of the oral cavity with the most common causes of female infertility, such as polycystic ovary syndrome and endometriosis, as well as gestational complications, e.g., low birth weight, preterm delivery, and miscarriages. This review highlights the composition of the female oral microbiome in relation to infertility-related disorders, such as endometriosis and polycystic ovary syndrome, and provides a comprehensive overview of the current state of knowledge on the relationship between a dysbiotic oral microbiome, pregnancy, and its impact on the female reproductive tract. Full article

Background: Omentin (omentin-1, intelectin-1, ITLN-1) is an adipokine considered to be a novel substance. Many chronic, inflammatory, or civilization diseases are linked to obesity, in which omentin plays a significant role. Methods: MEDLINE and SCOPUS databases were searched using the keywords “omentin” or “intelectin-1”. Then the most recent articles providing new perspectives on the matter and the most important studies, which revealed crucial insight, were selected to summarize the current knowledge on the role of omentin in a literature review. Results and Conclusions: The valid role of this adipokine is evident in the course of metabolic syndrome. In most cases, elevated omentin expression is correlated with the better course of diseases, including: type 2 diabetes mellitus, polycystic ovary syndrome, rheumatoid arthritis, metabolic dysfunction-associated steatotic liver disease, Crohn’s disease, ulcerative colitis, atherosclerosis, or ischemic stroke, for some of which it can be a better marker than the currently used ones. However, results of omentin studies are not completely one-sided. It was proven to participate in the development of asthma and atopic dermatitis and to have different concentration dynamics in various types of tumors. All of omentin’s effects and properties make it an attractive subject of research, considering still unexplored inflammation mechanisms, in which it may play an important role. Omentin was proven to prevent osteoarthritis, hepatocirrhosis, and atherosclerosis in mouse models. All of the above places omentin among potential therapeutic products, and not only as a biomarker. However, the main problems with the omentin’s research state are the lack of standardization, which causes many contradictions and disagreements in this field. Full article

Objective: Rat sarcoma (Ras) proteins, Kirsten, Harvey, and Neuroblastoma rat sarcoma viral oncogene homolog (KRAS, HRAS, and NRAS, respectively), are a family of GTPases, which are key regulators of cellular growth, differentiation, and apoptosis through signal transduction pathways modulated by growth factors that have been recognized to be dysregulated in PCOS. This study explores Ras signaling proteins and growth factor-related proteins in polycystic ovary syndrome (PCOS). Methods: In a well-validated PCOS database of 147 PCOS and 97 control women, plasma was batch analyzed using Somascan proteomic analysis for circulating KRas, Ras GTPase-activating protein-1 (RASA1), and 45 growth factor-related proteins. The cohort was subsequently stratified for BMI (body mass index), testosterone, and insulin resistance (HOMA-IR) for subset analysis. Results: Circulating KRas, and RASA1 did not differ between PCOS and control women (p > 0.05). EGF1, EGFR, and EGFRvIII were decreased in PCOS (p = 0.04, p = 0.04 and p < 0.001, respectively). FGF8, FGF9, and FGF17 were increased in PCOS (p = 0.02, p = 0.03 and p = 0.04, respectively), and FGFR1 was decreased in PCOS (p < 0.001). VEGF-D (p < 0.001), IGF1 (p < 0.001), IGF-1sR (p = 0.02), and PDGFRA (p < 0.001) were decreased in PCOS compared to controls. After stratifying for BMI ≤ 29.9 kg/m², EGFR FGF8, FGFR1 VEGF-D, IGF1, and IGF-1sR differed (p < 0.05) though EGF1, EGFRvIII, FGF8, FGFR1, and VEGF-D no longer differed; after subsequently stratifying for HOMA-IR, only FGFR1, VEGF-D, IGF1, and IGF-1sR differed between groups (p < 0.05). Conclusions: Several growth factors that activate Ras differ between women with and without PCOS, and when stratified for BMI and HOMA-IR, only FGFR1, VEGF-D, IGF1, and IGF-1sR differed; these appear to be inherent features of the pathophysiology of PCOS. Full article

Background: Polycystic ovary syndrome (PCOS) is the most common hyperandrogenic disorder in reproductive age women. Identifying new biomarkers with high specificity and sensitivity is crucial for diagnosing and monitoring the disease. MiRNAs correlate with PCOS-related comorbidities, suggesting their potential as biomarkers. This study examined plasma concentrations of miR-451a, miR-15a-5p, miR-320-5p, miR-28-5p, miR-103a-5p, and miR-194-5p in adolescents with PCOS, healthy controls, and hyperandrogenic controls without PCOS. Correlations between microRNA levels and PCOS features were analyzed. Methods: Data on auxological, physical, metabolic, and hormonal parameters were collected from study groups. MiRNAs were extracted from plasma. Expression levels were measured by qPCR and calculated using the 2^−∆∆Ct method. Results: Significant elevations in plasma levels of miR-15a-5p, miR-320-5p, miR-103a-5p, and miR-194-5p were observed in PCOS patients. Optimal threshold values for plasma miR-320-5p and miR-103a-5p effectively differentiated PCOS patients from healthy subjects, achieving 100% specificity and 76% sensitivity. In patients, expression of the four miRNAs showed significant positive correlations with some anthropometric and clinical parameters: miR-320-5p with systolic blood pressure, miR-103a-5p with CRP levels, miR-15a-5p with systolic blood pressure and CRP, and miR-194-5p with weight, waist circumference, and CRP. Conclusions: Among the investigated miRNAs, miR-320-5p and miR-103a-5p exhibited the most favorable diagnostic performance for PCOS. Full article

Introduction: Polycystic Ovary Syndrome (PCOS) affects up to 10% of women and is associated with weight gain, insulin resistance, and potential negative body image. In some cases, PCOS can lead to eating disorders, such as anorexia nervosa, due to the psychological impact of the condition’s physical symptoms. Early identification and intervention are crucial to preventing long-term health consequences. Detailed Case Description: A 25-year-old female diagnosed with PCOS at age 15 began restricting food intake to avoid weight gain, developing anorexia nervosa. By age 17, her body mass index (BMI) had dropped to 16.65, indicating moderate thinness. At that point, she started cognitive behavioral therapy (CBT) with strong social support. Over time, her eating behaviors normalized, and ten years later, her BMI was 21.16. She also scored 4.3/5 on the Body Appreciation Scale-2 (BAS-2), indicating a healthy body image. Conclusions: Early detection and intervention are crucial for women with PCOS at risk of eating disorders and body image issues. CBT plays a key role in addressing cognitive distortions, while a supportive social network strengthens recovery. Ongoing monitoring of physical and psychological health, including BMI and BAS-2, ensures effective treatment and improved long-term outcomes for these patients. Full article

Background and Objectives: Polycystic ovary syndrome (PCOS) is one of the most common endocrine disorders in women of reproductive age. Women with PCOS often have metabolic disorders such as insulin resistance (IR), type 2 diabetes (T2DM), obesity, and metabolic syndrome (MetS). The assessment of visceral adiposity and dysfunctional adipose tissue is crucial for understanding the metabolic risks associated with PCOS. The visceral adiposity index (VAI) and the dysfunctional adiposity index (DAI) are two novel metabolic indices that more specifically assess adipose tissue dysfunction and visceral fat accumulation. This study aimed to evaluate the clinical utility of VAI and DAI as predictive markers for metabolic complications such as insulin resistance (IR) and metabolic syndrome (MetS) in women with PCOS. Materials and Methods: This cross-sectional study included 92 women diagnosed with PCOS based on the 2023 revised Rotterdam criteria, as well as 68 healthy controls. Anthropometric and biochemical parameters, including fasting glucose, insulin, lipid profile, and hormonal markers, were recorded. VAI and DAI were calculated using established formulas derived from previous validated studies. Results: The mean VAI in PCOS patients was 4.26 ± 3.23, compared to 2.61 ± 1.92 in controls (p = 0.003). The mean DAI in PCOS patients was 3.00 ± 1.86, while in controls it was 1.86 ± 1.22 (p = 0.003). Both VAI (Area Under the Curve [AUC] = 0.639) and DAI (AUC = 0.635) did not demonstrate statistically significant diagnostic performance for PCOS itself, but they were strongly associated with metabolic disturbances within the PCOS group. VAI and DAI values were significantly elevated in PCOS patients with IR (p < 0.001) and MetS (p < 0.001). For MetS in PCOS patients, VAI demonstrated the highest predictive ability, with an AUC of 0.87 and a cutoff of 4.73 (sensitivity 62%, specificity 92%), while DAI had an AUC of 0.86 with a cutoff of 2.44 (sensitivity 74%, specificity 80%). Regarding IR in PCOS patients, VAI had an AUC of 0.75 with a cutoff of 2.56 (sensitivity 82%, specificity 56%), while DAI had an AUC of 0.74 with a cutoff of 1.59, showing a sensitivity of 82% and a specificity of 55%. Conclusions: Although VAI and DAI are not suitable for diagnosing PCOS, they provide valuable insights into the metabolic risks associated with the condition. VAI and DAI can serve as promising biomarkers for identifying IR and MetS risk in women with PCOS. Their integration into clinical practice may facilitate the early detection of cardiometabolic complications, offering a more specific metabolic risk assessment compared to traditional anthropometric measures. Full article

Background/Objectives: Polycystic ovary syndrome (PCOS) is a prevalent endocrine disorder affecting women of reproductive age. It is associated with glucose intolerance, insulin resistance and diabetes mellitus. The oral glucose tolerance test (OGTT) is commonly employed to detect glucose intolerance, but it can be inconvenient and time-consuming. We aimed to evaluate the precision of haemoglobin A1c (HbA1c) and other serum markers in predicting abnormal glucose tolerance (AGT). Methods: This diagnostic study involved 121 PCOS women who attended the Gynaecologic Endocrinology Unit at Siriraj Hospital. Patients underwent assessments for weight, height, waist circumference, modified Ferriman–Gallwey score and acanthosis nigricans. Blood samples were collected to measure fasting glucose and insulin levels after a 75-gram oral OGTT, fasting insulin level, HbA1c, lipid profile, androgen profile and complete blood count. Homeostasis model assessment of insulin resistance (HOMA-IR), homeostasis model assessment of beta-cell function (HOMA-β), quantitative insulin sensitivity check index (QUICKI) and fasting glucose-to-insulin ratio (G/I ratio) were calculated. The sensitivity, specificity and accuracy of these serum markers were compared. Results: The prevalence of AGT was 24.8%. The area under the receiver operating characteristic curve for HbA1c in detecting AGT was 0.656, while HOMA-IR, HOMA-β, QUICKI and the G/I ratio had values of 0.817, 0.737, 0.817 and 0.77, respectively. The G/I ratio cut-off point of 6% demonstrated a sensitivity of 73.3%, specificity of 74.7%, positive predictive value of 48.9%, negative predictive value of 89.5% and accuracy of 74.4%. Conclusions: The G/I ratio is the most accurate compared to other serum markers in detecting AGT among Thai women with PCOS. Full article

Background: Polycystic ovary syndrome (PCOS) and autoimmune thyroid disease (AITD) have a high prevalence in women of reproductive age. PCOS can lead to long-term adverse health effects such as obesity, diabetes, and increased metabolic and cardiovascular risk. Although it is known that subclinical and clinical hypothyroidism may also worsen body mass index (BMI), lipid profile, and metabolic risk, there are few studies on the impact of elevated thyroid autoantibodies alone and associated chronic inflammation on metabolic complications in women with PCOS. The main aim of the study was to assess the prevalence of AITD among Polish women with PCOS and the metabolic impact of the co-occurrence of both diseases in euthyroid individuals. The additional aim was a review of the literature on the prevalence of co-occurrence of PCOS and AITD and the metabolic consequences of this condition. Methods: A total of 424 women aged 16–46 years were recruited into the study—230 women diagnosed with PCOS and 194 women diagnosed with PCOS and co-occurrence of euthyroid AITD. Before participating in the study, patients signed a written informed consent. The study was approved by the local ethics committee. Statistical analysis was performed using IBM SPSS Statistics (v.25). A mini-review of the literature was performed using the PubMed database. Results: Women with co-occurrence of PCOS and euthyroid AITD had statistically significantly higher serum levels of total cholesterol (189.57 mg/dL vs. 180.16 mg/dL; p = 0.005; d Cohen’s = −0.278), LDL-cholesterol (109.80 mg/dL vs. 102.01 mg/dL; p = 0.009; d Cohen’s = −0.256), and triglycerides (107.77 mg/dL vs. 96.82 mg/dL; p = 0.027; d Cohen’s = −0.219) compared to women with PCOS. The difference was observed regardless of body weight. BMI was also statistically significantly higher in the PCOS-AITD group (27.55 kg/m² vs. 25.46 kg/m²; p = 0.003; d Cohen’s = −0.319), as was the prevalence of obesity (32.5% vs. 20.7%; Chi-square = 7.956; p = 0.047). The mini-review of the literature did not find many studies evaluating the impact of thyroid autoantibodies on metabolic outcomes in PCOS euthyroid women, and the data are still inconclusive. Conclusions: The presence of elevated serum concentrations of thyroid autoantibodies in euthyroid women with PCOS increases the risk of obesity and metabolic consequences. It is observed even in euthyroid and non-obese individuals. Consequently, the cardiovascular risk in these women may be higher than in PCOS women without elevated thyroid autoantibodies. It is important to assess thyroid autoantibodies in all women with PCOS. In euthyroid PCOS women with co-occurrence of elevated serum levels of thyroid autoantibodies, it is crucial to pay more attention to maintaining an appropriate body mass index. There is an urgent need for further studies in large groups of women assessing the impact of elevated thyroid autoantibodies alone on metabolic outcomes in euthyroid women with PCOS to confirm and clarify the results. Full article

Background/Objectives: Polycystic ovarian syndrome (PCOS) is a complex endocrine disorder affecting up to 15% of reproductive-age women, characterized by hyperandrogenism, chronic oligo-ovulation, and metabolic dysfunction. This study aims to evaluate serum sortilin levels in women with PCOS for the first time and investigate their potential associations with metabolic and hormonal alterations. Material and Methods: Eighty PCOS patients and 80 healthy controls were included; serum sortilin levels were measured using ELISA kits, with documented intra-assay and inter-assay variations below 6% and 8%, respectively, ensuring high specificity and sensitivity. Results: Serum sortilin levels were significantly elevated in PCOS patients (69.51 ± 27.75 pg/mL) versus controls (48.60 ± 21.20 pg/mL) (p < 0.001). PCOS patients exhibited higher mean HOMA-IR, free androgen index values, serum glucose, insulin, triglycerides, high-sensitivity C-reactive protein, luteinizing hormone, total testosterone, and DHEA-S levels, alongside reduced high-density lipoprotein cholesterol and sex hormone-binding globulin levels (all, p < 0.05). Notably, inverse correlations were observed between sortilin and low-density lipoprotein cholesterol levels in both groups (p = 0.028 and 0.033). Conclusions: This pioneering study indicates that serum sortilin may be implicated in PCOS pathogenesis and serves as a potential biomarker for metabolic dysfunction in PCOS. Larger, diverse studies with longitudinal designs are needed for further validation. Full article

Polycystic ovary syndrome (PCOS) is a medical condition that impacts millions of women worldwide; however, due to a lack of public awareness, as well as the expensive testing involved in the identification of PCOS, 70% of cases go undiagnosed. Therefore, the primary objective of this study is to design an expert machine learning (ML) model for the early diagnosis of PCOS based on initial symptoms and health indicators; two datasets were amalgamated and preprocessed to accomplish this goal, resulting in a new symptomatic dataset with 12 attributes. An ensemble learning (EL) model, with seven base classifiers, and a deep learning (DL) model, as the meta-level classifier, are proposed. The hyperparameters of the EL model were optimized through the nature-inspired walrus optimization (WaO), cuckoo search optimization (CSO), and random search optimization (RSO) algorithms, leading to the WaOEL, CSOEL, and RSOEL models, respectively. The results obtained prove the supremacy of the designed WaOEL model over the other models, with a PCOS prediction accuracy of 92.8% and an area under the receiver operating characteristic curve (AUC) of 0.93; moreover, feature importance analysis, presented with random forest (RF) and Shapley additive values (SHAP) for positive PCOS predictions, highlights crucial clinical insights and the need for early intervention. Our findings suggest that patients with features related to obesity and high cholesterol are more likely to be diagnosed as PCOS positive. Most importantly, it is inferred from this study that early PCOS identification without expensive tests is possible with the proposed WaOEL, which helps clinicians and patients make better informed decisions, identify comorbidities, and reduce the harmful long-term effects of PCOS. Full article

Polycystic ovary syndrome (PCOS) is an endocrine disorder that causes cardiometabolic and reproductive disorders in women of reproductive age. Women with PCOS are more likely to have obesity, type 2 diabetes mellitus, and cardiovascular disease. There is an inconclusive consensus on which dietary modification could be most effective in PCOS prevention and treatment. This review aimed to examine the effects of diverse dietary patterns on PCOS in women according to randomized controlled trials (RCTs) with and without an isocaloric dietary design. A literature search was performed in the PubMed^®®/MEDLINE^®® database up to 14 November 2024. A total of 21 RCTs were reviewed after screening the records, including 15 RCTs with a calorie-restricted dietary design and 6 RCTs with a non-calorie-restricted dietary design. This review found beneficial effects of the calorie-restricted Dietary Approaches to Stop Hypertension (DASH) diet on weight loss and glucose control in women with PCOS in four RCTs with an isocaloric dietary design. The calorie-restricted low-glycemic index (GI) diets from three RCTs and high-protein diets from four RCTs with an isocaloric dietary design showed no significant differences in anthropometric parameters, glucose control, lipids, and gonadal parameters compared with the control diet in women with PCOS. Non-calorie-restricted low-carbohydrate diets from four RCTs with an isocaloric dietary design showed similar results to the calorie-restricted low-GI diets and high-protein diets. However, the existing number of RCTs is insufficient to conclude the association between dietary patterns and PCOS in women. Further, well-designed dietary intervention studies are needed to assess the role of dietary patterns in PCOS beyond calorie restriction. Full article

Background: Acne is a pathology of the pilosebaceous unit. It is characterized by a highly complex etiopathology which includes inflammation, hyperkeratinization, increased sebum production, colonization of Cutibacterium acne, hyperandrogenemia, and hyperinsulinemia. This condition, together with hirsutism, androgenic alopecia, and acanthosis nigricans, are highly prevalent cutaneous manifestations of the polycystic ovary syndrome (PCOS). While conventional therapies represent effective treatment options, they are not free from side effects which may reduce compliance. In this context, considerable attention has been directed toward nutraceutical supplements, which include different molecules with great potential to reduce inflammation, hyperkeratinization, hyperseborrhea, and hyperinsulinemia. Myo-inositol has been shown to be effective in improving some of the signs and symptoms of patients with microcystic ovaries: reducing body mass index (BMI), testosterone free levels, dehydroepiandrosterone sulfate (DHEAS) levels, and improving ovarian function and insulin sensitivity. Methods: The authors conducted a retrospective study that included 200 patients suffering from PCOS. Over 6 months, they analyzed the effects of the supplementation of LEVIGON™ (Sanitpharma; Milan, Italy)—a specific nutraceutical formulation containing myo-inositol, microlipodispersed magnesium, and folic acid—on the clinical picture of acne and hirsutism. Results: The supplementation of LEVIGON™ showed a significant reduction of BMI, testosterone, testosterone free, and DHEAS levels, thus improving the clinical picture of acne and hirsutism. Moreover, the impact of acne on the quality of life, assessed using the Cardiff Acne Disability Index (CADI) and Dermatology Life Quality Index (DLQI) scale, improved significantly after 3 and 6 months. Women with hirsutism benefited also from a significant improvement of the Ferriman-Gallwey score after both 3 and 6 months (p < 0.0001; p < 0.0001 respectively compared to the baseline). Conclusions: Myo-inositol supplementation, associated with microlipodispersed magnesium in a bioaccessible form, proved to be extremely useful in reducing acne and hirsutism in patients suffering from microcystic ovaries. In addition, there were no side effects, thus confirming excellent compliance. Further long-term randomized clinical trials are needed to confirm this preliminary evidence. Full article

Background: Polycystic ovary syndrome (PCOS) is the most prevalent endocrinopathy in women of reproductive age, characterized by a broad spectrum of clinical, metabolic, and ultrasound findings. Over time, ultrasound has evolved into a cornerstone for diagnosing polycystic ovarian morphology (PCOM), thanks to advances in probe technology, 3D imaging, and novel stromal markers. The recent incorporation of artificial intelligence (AI) further enhances diagnostic precision by reducing operator-related variability. Methods: We conducted a narrative review of English-language articles in PubMed and Embase using the keywords “PCOS”, “polycystic ovary syndrome”, “ultrasound”, “3D ultrasound”, and “ovarian stroma”. Studies on diagnostic criteria, imaging modalities, stromal assessment, and machine-learning algorithms were prioritized. Additional references were identified via citation screening. Results: Conventional 2D ultrasound remains essential in clinical practice, with follicle number per ovary (FNPO) and ovarian volume (OV) functioning as primary diagnostic criteria. However, sensitivity and specificity values vary significantly depending on probe frequency, cut-off thresholds (≥12, ≥20, or ≥25 follicles), and patient characteristics (e.g., adolescence, obesity). Three-dimensional (3D) ultrasound and Doppler techniques refine PCOS diagnosis by enabling automated follicle measurements, stromal/ovarian area ratio assessments, and evaluation of vascular indices correlating strongly with hyperandrogenism. Meanwhile, AI-driven ultrasound analysis has emerged as a promising tool for minimizing observer bias and validating advanced metrics (e.g., SA/OA ratio) that may overcome traditional limitations of stroma-based criteria. Conclusions: The continual evolution of ultrasound, encompassing higher probe frequencies, 3D enhancements, and now AI-assisted algorithms, has expanded our ability to characterize PCOM accurately. Nevertheless, challenges such as operator dependency and inter-observer variability persist despite standardized protocols; the integration of AI holds promise in further enhancing diagnostic accuracy. Future directions should focus on robust AI training datasets, multicenter validation, and age-/BMI-specific cut-offs to optimize the balance between sensitivity and specificity, ultimately facilitating earlier and more precise PCOS diagnoses. Full article

Background: Exon 1 of the gene encoding for the androgen receptor (AR) contains a polymorphic sequence of variably repeated CAG triplets ranging from 11 to 36. The number of triplets appears to inversely correlate with receptor transcriptional activity, conditioning the peripheral effects of testosterone. Methods: We conducted a narrative review to explore the current evidence regarding the relationship between the number of CAG repeats and the human reproductive system. Results: We found several articles that investigate the relationship between CAG polymorphism and the male reproductive system, suggesting a possible modulatory effect on spermatogenesis, sexual function, prostate cancer, and testicular cancer. Similarly, in women, evidence has emerged to support a possible relationship between CAG repeat number and breast cancer, polycystic ovary syndrome (PCOS), and recurrent spontaneous abortions (RSAs). Unfortunately, the data in the current literature are largely discordant, largely due to an important influence of ethnicity on the variability of the CAG polymorphism, and partly due to the quality of the available studies. Conclusions: In the current state of the art, the study of CAG polymorphism does not have a sufficient literature base to allow its use in common clinical practice. However, it represents an interesting research target and, in the future, as new evidence emerges, it could help to elucidate some pathogenetic aspects of human reproductive disorders. Full article