Possible correlations between infertility and adverse metabolic profile: a case-control study

Lifestyle factors (i.e. obesity) worsen infertility in both sexes. Metabolic dysfunction-associated steatotic liver disease (MASLD) in particular and adverse metabolic profile in general seem to be related to infertility, for the relationship with the over-weight and the endocrinological dysregulation as in Polycystic Ovary Syndrome, erectile disfunction and hypogonadism.

Deeping metabolic- hepatic disorders (i.e. MASLD) in infertility, with focus on markers of hepatic fat. The aims of this exploratory study are: the analysis of metabolic disturbs and the higher prevalence in infertiles compared to controls; genotype the recruited subjects to evaluate MASLD genetic predisposition in the sample population.

This is a prospective, case-control study on an Italian cohort of couples. We evaluated in infertile (cases) vs fertile (controls) participants: personal and anamnestic information about health and metabolic disorders through questionnaire, blood data, liver Elastometry, and genetic variants related to MASLD to create a polygenic risk score (TMP6SF2 - rs58542926, GCKRP446L - rs1260326, MBOAT7 - rs641738, PNPLA3 rs738409 and HSD17B13 rs72613567).

A total sample of 253 patients was obtained, 213 liver Fibroscan exams were performed, 192 participants underwent in-depth genetic analyses (109 cases vs 83 controls). AST/ALT(index of fibrosis), CAP(for steatosis), and abdominal circumference were increased among infertile patients. , PRS-5 shows an association with the individual status of the subject (to be a case or a control in the study), meaning that high value of PRS-5 could increase the probability to belong to the population at risk (case).

Adverse metabolic profiles could be related to a series of alterations and genetic variants potentially involved in the reduction of couple fertility.