September 2024 in “Medicina” This study found that among women with PCOS, the FokI CC genotype of the VDR gene may offer protection against acne and seborrhea, while the VDR-TaqI dominant genotype is associated with reduced oxidative stress.
26 citations
,
August 2008 in “Clinical endocrinology” This paper summarizes proceedings from a PCOS Special Interest Group, reporting recent advances in the understanding of PCOS follicular abnormalities, associated cardiovascular risks, and dermatological issues, but does not present new clinical findings.
10 citations
,
November 2010 in “Journal of Pharmacy Practice” This article discusses polycystic ovary syndrome, highlighting treatment approaches for managing insulin resistance, hyperandrogenism, and fertility issues, but reports no new clinical results.
29 citations
,
December 2017 in “Molecular therapy” This study found that enzyme replacement therapy in mice with a severe form of classical homocystinuria improved metabolic patterns and alleviated many clinical symptoms.
2 citations
,
June 2025 in “Biomolecules” This review highlights that gut dysbiosis and bacterial extracellular vesicles are key factors in PCOS pathophysiology, and suggests AI-driven analysis of these profiles could enhance diagnostic accuracy and treatment personalization, though ethical concerns like data privacy and bias must be considered.
October 2023 in “IntechOpen eBooks” This book chapter reviews the genetic and epigenetic factors influencing PCOS, particularly in a global context and specific to India, and reports no new clinical findings.
45 citations
,
February 2012 Among obese women potentially eligible for combined oral contraceptives, this study observed a higher frequency of non-alcoholic fatty liver disease in those with polycystic ovary syndrome.
January 2025 in “American Journal of Translational Research” This study reported that the combination of EE-CPA and raloxifene effectively manages PCOS-related infertility, enhancing pregnancy outcomes through improvements in metabolism, sex hormones, ovarian function, and endometrial receptivity, without significantly increasing adverse effects.
November 2025 in “Journal of Investigative Dermatology” This study identified nine pathogenic variants in the PADI3 gene and variants in the S100A3 and TCHH genes in patients with central centrifugal cicatricial alopecia, suggesting a broader genetic basis for the disease and potential targets for genetic testing and therapies.
October 2024 in “Journal of the Endocrine Society” This study examined uncharacterized CYP21A2 gene variants related to non-classic congenital adrenal hyperplasia and found that several mutations reduce enzyme activity, which may help improve diagnostic and treatment strategies.
2 citations
,
October 2021 in “Clinical Epidemiology and Global Health” The researchers reported a high incidence of hyperuricemia in women with PCOS, with positive correlations to testosterone, SHBG, HOMA-IR, and LDL levels, but negative correlations to HbA1C, FPG, and FSI.
2 citations
,
October 2016 in “OPAL (Open@LaTrobe) (La Trobe University)” This study reports that the Swedish newborn screening program for phenylketonuria, galactosaemia, and biotinidase deficiency is effective, with high sensitivity and specificity, and lower false positive rates compared to other countries, while genetic variants impact detection and incidence patterns in Sweden.
13 citations
,
April 2015 in “Human Reproduction” Obese Hispanic women with PCOS are at higher risk for metabolic problems than non-Hispanic white women.
7 citations
,
December 2014 in “Gynecological Endocrinology” This study found that LC-MS/MS is a more reliable method than immunoassays for measuring serum 17OHP and androgen levels in women with hyperandrogenism.
July 2025 in “Zahedan Journal of Research in Medical Sciences” This study found no significant link between the length of CAG repeats in the AR gene and the risk of polycystic ovary syndrome in Iranian women.
This study found that CYP21A2 gene mutations are the most common cause of non-classic congenital adrenal hyperplasia, while CYP11B1 mutations are rare and may partially impair enzyme activity.
This study identified 193 plasma proteins associated with prostate cancer risk, validating 20 high-risk proteins including KLK3, and pinpointed potential drug targets like HSPB1, RRM2B, and PSCA through genetic analysis, offering new insights for biomarkers and treatments.
1 citations
,
January 2017 in “Indian Journal of Pharmaceutical Sciences” This study found that women with polycystic ovary syndrome in South India had higher body mass index, waist/hip ratio, and elevated levels of several hormones compared to controls, and waist/hip ratio may be a better risk indicator than body mass index.
5 citations
,
December 2024 in “Pharmaceutics” This review discusses the potential of using nanomaterial-based drug delivery systems to improve the treatment of polycystic ovary syndrome but reports no new clinical results, highlighting future research directions.
August 2020 in “Journal of Womens Health, Issues and Care” This review summarizes existing medications for Polycystic Ovary Syndrome, highlighting herbal treatments, but does not report new clinical results.
5 citations
,
April 2014 in “Journal of Obstetrics and Gynaecology Research” This study found that young women with PCOS had normal thyroid function but showed alterations in lipid metabolism, which may predispose unmarried women in this group to cardiovascular diseases.
24 citations
,
July 2014 in “Journal of Investigative Dermatology” This study reports that a widespread founder SERPINB7 mutation underlies Nagashima-type palmoplantar keratosis, which is a common form of palmoplantar keratosis in Asian populations.
24 citations
,
March 2010 in “Value in Health” This review found that the only PCOS-specific quality of life measure, the PolyCystic Ovary Syndrome Questionnaire, has an incomplete development history and lacks some essential measurement properties for clinical trial use.
April 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” The researchers reported that disrupting the RPGRIP1L gene in mice impaired desmosome function, causing skin blistering, and their findings suggest that PKCβII inhibition could help treat pemphigus.
January 2026 in “Animal Genetics” This study investigated a Labrador Retriever with paw pad hyperkeratosis and identified a unique de novo heterozygous missense variant in the GJB6 gene, suggesting its potential role in the condition, analogous to Clouston syndrome in humans, although differences between species may provide further insights.
1 citations
,
November 2024 in “Diabetes Metabolic Syndrome and Obesity” In this study, researchers found that a specific genetic variant in the INSR gene is linked to severe insulin resistance and hyperandrogenemia in type A insulin resistance syndrome, suggesting the benefit of exon sequencing for accurate diagnosis and treatment.
6 citations
,
February 2013 in “Medical Oncology” In this study, researchers reported that the SHBG +5790 G>A polymorphism was associated with an increased risk of developing resistance to hormonal castration in advanced prostate cancer patients.
In this prospective observational study at a tertiary care center in Uttar Pradesh, researchers observed that comprehensive, individualized treatments significantly improved clinical outcomes for South Asian women with PCOS, including reductions in BMI and improvements in insulin sensitivity, ovulation, and pregnancy rates.
35 citations
,
August 2021 in “BMC Medical Genomics” This study found that serum metabolic profiles differ significantly between polycystic ovary syndrome patients and healthy controls, highlighting potential metabolic markers for diagnosing and prognosing PCOS.
20 citations
,
June 2012 in “Human Reproduction” This study observed that pregnant women with polycystic ovarian syndrome had a higher prevalence and incidence of cervical insufficiency compared to those without PCOS.