Liver phenotypes in PCOS: Analysis of exogenous and inherited risk factors for liver injury in two European cohorts

Background & Aims Fatty liver disease (FLD) is common in women with polycystic ovary syndrome (PCOS). Here, we use non-invasive tests to quantify liver injury in women with PCOS and analyse whether FLD-associated genetic variants contribute to liver phenotypes in PCOS. Methods Prospectively, we recruited women with PCOS and controls at two university centres in Germany and Poland. Alcohol abuse was regarded as an exclusion criterion. Genotyping of variants associated with FLD was performed using TaqMan assays. Liver stiffness measurements (LSM), controlled attenuation parameters (CAP) and non-invasive HSI, FLI, FIB-4 scores were determined to assess hepatic steatosis and fibrosis. Results A total of 42 German (age range 18–53 years) and 143 Polish (age range 18–40 years) women with PCOS, as well as 245 German and 289 Polish controls were recruited. In contrast to Polish patients, Germans were older, presented with more severe metabolic profiles and had significantly higher LSM (median 5.9 kPa vs. 3.8 kPa). In the German cohort, carriers of the PNPLA3 p.I148M risk variant had an increased LSM (p = .01). In the Polish cohort, the minor MTARC1 allele was linked with significantly lower serum aminotransferases activities, whereas the HSD17B13 polymorphism was associated with lower concentrations of 17-OH progesterone, total testosterone, and androstenedione (all p < .05). Conclusions FLD is common in women with PCOS. Its extent is modulated by both genetic and metabolic risk factors. Genotyping of variants associated with FLD might help to stratify the risk of liver disease progression in women suffering from PCOS.Peer Reviewe

Liver phenotypes in PCOS : Analysis of exogenous and inherited risk factors for liver injury in two European cohorts

Background & Aims Fatty liver disease (FLD) is common in women with polycystic ovary syndrome (PCOS). Here, we use non-invasive tests to quantify liver injury in women with PCOS and analyse whether FLD-associated genetic variants contribute to liver phenotypes in PCOS. Methods Prospectively, we recruited women with PCOS and controls at two university centres in Germany and Poland. Alcohol abuse was regarded as an exclusion criterion. Genotyping of variants associated with FLD was performed using TaqMan assays. Liver stiffness measurements (LSM), controlled attenuation parameters (CAP) and non-invasive HSI, FLI, FIB-4 scores were determined to assess hepatic steatosis and fibrosis. Results A total of 42 German (age range 18–53 years) and 143 Polish (age range 18–40 years) women with PCOS, as well as 245 German and 289 Polish controls were recruited. In contrast to Polish patients, Germans were older, presented with more severe metabolic profiles and had significantly higher LSM (median 5.9 kPa vs. 3.8 kPa). In the German cohort, carriers of the PNPLA3 p.I148M risk variant had an increased LSM (p = .01). In the Polish cohort, the minor MTARC1 allele was linked with significantly lower serum aminotransferases activities, whereas the HSD17B13 polymorphism was associated with lower concentrations of 17-OH progesterone, total testosterone, and androstenedione (all p < .05). Conclusions FLD is common in women with PCOS. Its extent is modulated by both genetic and metabolic risk factors. Genotyping of variants associated with FLD might help to stratify the risk of liver disease progression in women suffering from PCOS

Czy jestem kobietą? Opis przypadku zespołu całkowitej niewrażliwości na androgeny i przegląd literatury

Zespół niewrażliwości na androgeny jest zaburzeniem rozwoju płciowego spowodowanym niewrażliwością receptora androgenowego wskutek mutacji jego genu na chromosomie X. Częstość występowania zależy od typu zespołu — całkowita niewrażliwość na androgeny występuje z częstością około około 1/62 000, natomiast częściowa 1/20 000. W artykule przedstawiono opis przypadku pacjentki z zespołem całkowitej niewrażliwości na androgeny rozpoznanym w 24. roku życia pacjentki. Opisano proces diagnostyczny oraz zalecenia dotyczące leczenia

Clinical Usefulness of Non-Invasive Metabolic-Associated Fatty Liver Disease Risk Assessment Methods in Patients with Full-Blown Polycystic Ovary Syndrome in Relation to the MRI Examination with the Ideal IQ Sequence

The coexistence of polycystic ovary syndrome (PCOS) and liver steatosis has been studied for years. The gold standards for the diagnosis of liver steatosis are liver biopsy and magnetic resonance imaging (MRI), which are invasive and expensive methods. The main aim of this study is to check the usefulness of lipid accumulation product (LAP) and free androgen index (FAI) in the diagnosis of liver steatosis. The Ideal IQ MRI was performed in 49 women with PCOS phenotype A to assess the degree of liver steatosis, which was expressed with the proton density fat fraction (PDFF). Anthropometric examination and laboratory tests were performed, and the LAP and FAI were calculated. The correlation between MRI results and LAP, FAI, and one of the FAI components, sex hormone binding globulin (SHBG), was checked using statistical tests. There is a statistically significant correlation between PDFF and LAP and also between PDFF and FAI. LAP = 70.25 and FAI = 5.05 were established as cut-offs to diagnose liver steatosis. The SHBG is not a statistically significant parameter to predict liver steatosis. The study showed that especially LAP, but also FAI, can be used to predict liver steatosis with high specificity and sensitivity