Researchers led by Xavier Correig from the Universitat Rovira i Virgili in Tarragona, Spain, report in Clinical Chemistry that there is metabolic heterogeneity in polycystic ovary syndrome. Using a GC-MS-based metabolomics approach, the researchers examined plasma samples from 36 women with PCOS and 39 women without it. The cases and controls were matched for age, body mass index, and obesity. The researchers found that PCOS patients were, as compared to controls, hyperinsulinemic and insulin resistant. Obese PCOS patients also had higher levels of long-chain fatty acids and glycerol in their plasma, while non-obese patients with PCOS "showed a metabolic profile consisting of suppression of lipolysis and increased glucose utilization," the researchers report. The further conclude: "Our results indicate substantial metabolic heterogeneity in PCOS, suggesting that insulin resistance and hyperinsulinemia contribute to the pathogenesis of this disorder, but that the latter is not necessarily secondary to the former."
Also in Clinical Chemistry, the University College London Institute of Child Health's Lyn Chitty and colleagues describe their use of digital PCR to detect sickle cell anemia in fetuses from cell-free fetal DNA in maternal plasma. They report that their relative mutation dosage-based approach could correctly identify sickle cell genotype in 82 percent of male fetuses and 75 percent of female fetuses. "We have extended the use of RMD for single-gene disorders to include the prenatal diagnosis of sickle cell anemia, and, for the first time, we have applied this approach to the detection of an autosomal recessive disease in female fetuses," Chitty and her colleagues write.