The molecular phenotype of polycystic ovary syndrome (PCOS) theca cells and new candidate PCOS genes

Posted by Chantel Martiromo, research contributed by PubMed

Polycystic ovary syndrome (PCOS) affects 5% of reproductive aged women and is the leading cause of anovulatory infertility. A hallmark of PCOS is excessive theca cell androgen secretion, which is directly linked to the symptoms of PCOS. According to the study by the University of Pennsylvania, posted in Pubmed, in a microarray analysis to define the gene networks involved in excess androgen synthesis by the PCOS theca cells in order to identify candidate PCOS genes, evealed that PCOS theca cells have a gene expression profile that is distinct from normal theca cells. Included in the cohort of genes with increased mRNA abundance in PCOS theca cells were aldehyde dehydrogenase 6 and retinol dehydrogenase 2, which play a role in all-trans-retinoic acid biosynthesis and the transcription factor GATA6. We demonstrated that retinoic acid and GATA6 increased the expression of 17alpha-hydroxylase, providing a functional link between altered gene expression and intrinsic abnormalities in PCOS theca cells. Thus, our analyses have 1) defined a stable molecular phenotype of PCOS theca cells, 2) suggested new mechanisms for excess androgen synthesis by PCOS theca cells, and 3) identified new candidate genes that may be involved in the genetic etiology of PCOS.

11. Polycystic ovary syndrome: clinical presentation in normal-weight compared with overweight adolescents

Posted by Chantel Martiromo, research contributed by PubMed 

In the study to characterize polycystic ovary syndrome (PCOS) in adolescents and determine whether a distinct clinical presentation differentiates normal-weight (NW) from overweight (OW) PCOS, posted in  PubMed, found that patient age ranged from 11.3 to 20.3 years (mean, 15.7 ± 1.7 years), and body mass index (BMI) from 17.4 to 64.2 kg/m2 (mean, 31.7 ± 7.7 kg/m2). Seventy-one percent of patients were Caucasian, 85% had irregular menses, 69% reported hirsutism, 18% had moderate to severe acne, 91% had a high free androgen index (FAI), and 8% had abnormal thyroid-stimulating hormone (TSH) levels. The BMI-standard deviation (SD) score was 0.1 ± 0.5 in NW and 3.4 ± 1.8 in OW girls. NW girls were older at diagnosis (16.4 ± 1.4 years vs. 15.5 ± 1.7 years; P = .0006) than OW girls, less likely to have a family history of obesity (22% vs. 65%; P<.0001), and less likely to have acanthosis nigricans (11% vs. 68%; P<.0001). NW girls were more likely to have polycystic ovaries on ultrasound (88% vs. 52%; P = .01) and a lower FAI (7.3 ± 4.5 vs. 17.4 ± 12.9; P<.0001). The BMI-SD score was negatively associated with sex hormone binding globulin (rs = -0.52; P<.0001) and positively associated with FAI (rs = 0.42; P<.0001)

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