Male Genes Involved in Recurrent Miscarriage

The chromosome study and paternal age are also factors to take into consideration when these types of problems occur.

Factor masculino_GinemedRecurrent pregnancy loss (RPL), or recurrent miscarriage, is three or more consecutive pregnancy losses before week 20 of gestation, with a fetus weighing ≤ 500 g.

Though many factors can play a role in RPL and the causes are sometimes unexplained, it makes sense to individualise each case and take into account the female’s age, the circumstances surrounding her early pregnancy losses, family history and the couple’s level of anxiety. On the other hand, genetic causes represent around 50% of cases.

The spermatozoid contributes 50% of the genetic material; thus, it is reasonable to ask ourselves whether genetic abnormalities in the sperm may have an impact on the development or loss of the embryo.

Study of the male factor has been based on the sperm analysis for years, and although this analysis is necessary, it is not enough. The chromosome study and paternal age, among other factors, must also be taken into consideration with these types of problems.

Spermatogenesis is the mechanism in charge of sperm production which begins functioning during adolescence and continues throughout the male’s lifetime.

In males whose spermatozoids are chromosomally normal, errors can occur during meiosis in sperm production; these errors can be passed on to the embryo, resulting in embryos that are chromosomally abnormal and highly likely to miscarry.

Mutations and errors in certain genes may result in mistakes during sperm production. There are several genes linked to these abnormalities which may lead to recurrent miscarriage as a result of sperm DNA damage, errors in the production of euploid spermatozoids (with normal chromosomes), etc., in addition to genes related to autoimmune diseases.

Therefore, further investigation into the male factor with additional testing, together with traditional analyses, can help us to try to gain a better understanding of the cause of pregnancy loss and to stop diagnosing 50% of pregnancy loss cases as “unknown origin”.

Posted in Assisted Reproduction, Fertility, Gynaecology

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