Genetic causes of infertility and related examinations

Fertility problems and infertility affect about 15 per cent of couples. It is estimated that 10–15% of infertility problems in men and 8–10% in women are caused by genetic factors.

The genetic causes of infertility have been investigated in the past, but the methods have been laborious. New molecular genetic technologies enable fast and cost-effective sequencing of large quantities of DNA. These technologies make it possible to sequence large gene panels or even study the entire genome.

In recent years, genes have been discovered that are linked to infertility problems in different sexes. Genetic causes include chromosomal abnormalities and mutations or mutations in an individual gene. 

Genetic causes of female infertility

Some of the genes studied have been found to be connected to female infertility. Genetic disorders can cause, for example, premature ovarian insufficiency, ovarian dysfunction and developmental disorders, recurrent miscarriages or oocyte maturation failure.

The female gene panel includes an analysis of nearly 70 genes that have been found to be linked to female infertility.

Genetic causes of male infertility

Genetic causes of male infertility may be endocrinological, meaning that they are related to hormone-producing organs. Endocrinological causes are characterised by low sex hormone levels and abnormal pituitary hormone levels.

Genetic causes can also cause ejaculatory dysfunction or structural abnormalities of the seminiferous tubules, making it difficult for sperm to pass from the testes. Congenital seminiferous tubule obstruction can either be unilateral or bilateral. The most commonly known structural disorder is the congenital bilateral absence of seminiferous tubules caused by the CFTR gene, which results in a lack of sperm in the semen, also known as azoospermia.

The male gene panel contains 50 genes that are known to affect the motility and structure of sperm or cause azoospermia.

When is genetic testing recommended?

Genetic testing can be useful for investigating recurrent miscarriages and in fertility examinations, especially if there is a family history of infertility. If there are several unsuccessful insemination treatments, genetic testing may be helpful in the further planning of treatments. The test is performed on DNA isolated from a blood sample.