Fetal Alpha 5-Reductase Val89Leu Mutation Is Associated With Late Miscarriage

The study investigated the role of polymorphisms in the testosterone/oestrogen pathway in miscarriages, focusing on eight specific SNPs in the SRD5A2, CYP19A1, and ESR1 genes. The case group included 94 fetal tissue samples from miscarriages at ≤24 weeks, while the control group had 331 healthy subjects. After excluding samples with chromosomal abnormalities, 67 euploid miscarriage samples were analyzed. The SRD5A2 rs523349 (Val89Leu) polymorphism was significantly associated with an increased risk of miscarriage, particularly in the second trimester, suggesting that an imbalance in testosterone/dihydrotestosterone may contribute to late pregnancy loss. The study found a significant association between the SRD5A2 rs523349 G allele and an increased risk of late miscarriage, particularly in the second trimester and among female fetuses. The G allele, which affects the conversion of testosterone to dihydrotestosterone (DHT), was linked to higher testosterone levels and a decreased estrogenic action, potentially disrupting fetal development. The study highlighted the need for further research to understand the hormonal imbalances affecting fetal viability, especially considering the small sample size of male fetuses. The findings suggested that genetic polymorphisms influencing hormone metabolism could play a crucial role in fetal viability and miscarriage risk. The study investigated the association between the fetal alpha 5-reductase Val89Leu mutation and late miscarriage. Researchers analyzed genes involved in the sex hormone pathway and used a Kaplan-Meier plot to quantify the effect of the rs523349 mutation on miscarriage rates. A box and whisker plot illustrated the time to miscarriage based on fetal sex. Genotype frequencies were compared between cases and controls, and a case-control study was conducted with subjects having a normal karyotype. The findings suggested a significant link between the Val89Leu mutation and an increased risk of late miscarriage.