Polycystic Ovary Syndrome

University of Chicago, Department of Medicine, Section of Endocrinology, Chicago, USA.
New England Journal of Medicine (Impact Factor: 55.87). 04/2005; 352(12):1223-36. DOI: 10.1056/NEJMra041536
Source: PubMed
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    • "Obesity often complicates reproduction by affecting genetic factors that are known to play a role in the coordination of many encoded proteins released at selected intervals for the establishment of pregnancies (Jungheim er al., 2012; Metwally et al., 2007). For example, genetic-related conditions that correlate with decreased reproduction (e.g., fewer reproductive cycles) include women with polycystic ovarian syndrome (PCOS) and female carriers of the fragile X syndrome (i.e., FMR1 gene mutation) (Pasquali and Gambineri, 2006; Peng et al., 2014; Ehrmann, 2005). About 5 to 10% of women from the general population are diagnosed with PCOS and over 40 genes are known to play a role in this disorder (Venkatesh et al., 2014). "
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    ABSTRACT: To provide an update of currently recognized clinically relevant candidate and known genes for human reproduction and related infertility plotted on high resolution chromosome ideograms (850 band level) and represented alphabetically in tabular form. Descriptive authoritative computer-based website and peer-reviewed medical literature searches used pertinent keywords representing human reproduction and related infertility along with genetics and gene mutations. A master list of genes associated with human reproduction and related infertility was generated with a visual representation of gene locations on high resolution chromosome ideograms. GeneAnalytics pathway analysis was carried out on the resulting list of genes to assess underlying genetic architecture for infertility. Advances in genetic technology have led to the discovery of genes responsible for reproduction and related infertility. Genes identified (N=371) in our search primarily impact ovarian steroidogenesis through sex hormone biology, germ cell production, genito-urinary or gonadal development and function, and related peptide production, receptors and regulatory factors. The location of gene symbols plotted on high resolution chromosome ideograms forms a conceptualized image of the distribution of human reproduction genes. The updated master list can be used to promote better awareness of genetics of reproduction and related infertility and advance discoveries on genetic causes and disease mechanisms. Copyright © 2015. Published by Elsevier B.V.
    Gene 09/2015; 575(1). DOI:10.1016/j.gene.2015.08.057 · 2.14 Impact Factor
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    • "Polycystic ovary syndrome (PCOS) is the most common metabolic dysfunction and endocrine abnormality in women of reproductive age (Franks, 1995; Wood et al., 2007). It is estimated to affect more than 5% of the female population, and is the major cause of menstrual disturbances and anovulatory infertility (Asuncion et al., 2000; Azziz et al., 2004; Ehrmann, 2005; Franks, 1995; Knochenhauer et al., 1998). Although PCOS patients are typically characterized by production of an increased number of oocytes, these oocytes are often of poor quality and the oocyte developmental competence is altered (Dumesic and Abbott, 2008; Ludwig et al., 1999; Mulders et al., 2003; Sahu et al., 2008). "
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    ABSTRACT: The high-risk human papillomaviruses (HPV) that infect the anogenital tract are strongly associated with the development of cervical carcinoma, which is the second most common cancer in women worldwide. Therapeutic drugs specifically targeting HPV are not available. Polyphenolic compounds have gained considerable attention because of their cytotoxic effects against a variety of cancers and certain viruses. In this study, we examined the effects of several polyphenols on cellular proliferation and death of the human cervical cancer cells and human cervical epithelial cells containing stable HPV type 16 episomes (HPVep). Our results show that three polyphenols inhibited proliferation of HeLa cells dose-dependently. Furthermore, one of the examined polyphenols, gallic acid (GA), also inhibited the proliferation of HPVep cells and exhibited significant specificity towards HPV-positive cells. The anti-proliferative effect of GA on HPVep and HeLa cells was associated with apoptosis and upregulation of p53. These results suggest that GA can be a potential candidate for the development of anti-HPV agents. This article is protected by copyright. All rights reserved. This article is protected by copyright. All rights reserved.
    Journal of Medical Virology 06/2015; 88(1). DOI:10.1002/jmv.24291 · 2.35 Impact Factor
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    • "PCOS affects between 6% and 10% of premenopausal women [1,2] and is a heterogeneous disorder with uncertain pathophysiology. Many women with PCOS also exhibit insulin resistance and glucose intolerance [3]. Moreover, 38% to 88% of women with PCOS are overweight or obese [4,5]. "
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    ABSTRACT: Background The fat mass and obesity-associated (FTO) gene is associated with obesity and type 2 diabetes mellitus. Obesity and insulin resistance are also common features of polycystic ovary syndrome (PCOS). Therefore, the FTO gene might be a candidate gene for PCOS susceptibility. The aim of the present study was to evaluate the effects of FTO gene variants on PCOS susceptibility and metabolic and reproductive hormonal parameters. Methods We recruited 432 women with PCOS (24±5 years) and 927 healthy women with regular menstrual cycles (27±5 years) and performed a case-control association study. We genotyped the single nucleotide polymorphisms rs1421085, rs17817449, and rs8050136 in the FTO gene and collected metabolic and hormonal measurements. Results Logistic regression revealed that the G/G genotype (rs1421085, 1.6%), the C/C genotype (rs17817449, 1.6%), and the A/A genotype (rs8050136, 1.6%) were strongly associated with an increased risk of PCOS (odds ratio, 2.551 to 2.559; all P<0.05). The strengths of these associations were attenuated after adjusting for age and BMI. The women with these genotypes were more obese and exhibited higher free androgen indices (P<0.05) and higher free testosterone levels (P=0.053 to 0.063) compared to the other genotypes. However the significant differences disappeared after adjusting for body mass index (BMI). When we analyzed the women with PCOS and the control groups separately, there were no significant differences in the metabolic and reproductive hormonal parameters according to the FTO gene variants. Conclusion The rs1421085, rs17817449, and rs8050136 variants of the FTO gene were associated with PCOS susceptibility and hyperandrogenemia in young Korean women. These associations may be mediated through an effect of BMI.
    Diabetes & metabolism journal 08/2014; 38(4):302-10. DOI:10.4093/dmj.2014.38.4.302
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