Genetic infertility: causes, diagnosis, and treatment

What is genetic infertility?

Couples who are experiencing difficulties in conceiving a child may, in some cases, be referred for genetic diagnosis. Indeed, abnormalities in the structure and number of chromosomes, both in women and men, can significantly reduce the chances of pregnancy.

In which cases can genetic infertility be suspected?

In men

A man may be recommended to consult a geneticist and undergo appropriate diagnosis in the following cases:

• severe oligozoospermia;
• azoospermia;
• teratozoospermia;
• asthenozoospermia.

In women

Genetic infertility in a woman may be suspected when:

• infertility of unclear origin;
• failure of in vitro fertilization attempts;
• embryo implantation disorders;
• spontaneous miscarriages;
• unexplained pregnancy terminations.

Genetic causes of infertility

In men

Oligozoospermia and non-obstructive azoospermia may be associated with:

• chromosomal abnormalities (karyotype abnormalities: translocations, inversions);
• Y chromosome disomy (47,XYY syndrome or double Y syndrome), Klinefelter syndrome;
• structural abnormalities of the sex chromosomes;
• mutations of the AR gene;
• hypogonadotropic hypogonadism;
• deletions in the AZF locus of the Y chromosome (so-called azoospermia factor);
• mutations of the CFTR gene related to cystic fibrosis;
• mutations of the SRY gene (sex differentiation gene).

Obstructive azoospermia may be associated with mutations of the CFTR gene related to cystic fibrosis. There is also a link between the development of teratozoospermia, asthenozoospermia, and mutations in the genes coding for FSH, LH, and their receptors, as well as chromosomal abnormalities.

In women

Genetic factors of infertility include abnormalities in the structure or number of chromosomes that can lead to abnormal development of germ cells, prevent successful fertilization, or cause anomalies early in pregnancy. They can also affect hormonal balance and the functionality of reproductive organs, thus reducing the likelihood of conceiving and carrying a child to term.

The most common abnormalities are as follows:

• numerical chromosomal abnormalities of eggs;
• chromosomal aberrations (Robertsonian translocation, inversions);
• abnormalities of the sex chromosomes (Shereshevsky-Turner syndrome, trisomy X, Swyer syndrome);
• structural disorders of the sex chromosomes.

Molecular genetic disorders

• Mutations in genes responsible for hemostasis;
• endometrial receptivity disorders;
• Martin-Bell syndrome;
• shift in the implantation window;
• hypogonadotropic hypogonadism.

Hereditary diseases affecting fertility

Some hereditary genetic diseases can cause infertility:

• Cystic fibrosis;
• Prader-Willi syndrome;
• galactosemia;
• adrenogenital syndrome;
• hemochromatosis;
• beta-thalassemia.

Cystic fibrosis and Prader-Willi syndrome have the most pronounced effects on reproductive function, while galactosemia and adrenogenital syndrome can significantly disrupt hormonal balance.

Methods for diagnosing genetic infertility

Modern diagnostic methods allow for the identification of hereditary factors affecting reproductive health and for the development of an individualized treatment plan. The main methods are as follows:

• Karyotype - detection of chromosomal abnormalities;
• Gene sequencing - detection of point mutations;
• Analysis of deletions and duplications in genes responsible for fertility.

These tests help determine the genetic causes of infertility and choose the most effective treatment strategies.

Treatment strategies for genetic infertility

Depending on the identified genetic factors, different approaches may be used:

• Hormone therapy - adjusting hormone levels to improve fertility.
• Correction of lifestyle and nutrition - eliminating factors that harm reproductive health.
• Assisted reproductive technologies (ART, IVF) - utilizing modern treatment methods.

In complex cases, it may be recommended to resort to IVF (in vitro fertilization):

• IVF (in vitro fertilization) - if natural conception is impossible;
• IVF with egg donation - in cases of severe abnormalities in oogenesis;
• IVF with double donation (eggs and sperm from a donor) - in cases of severe genetic disorders in both partners.

These methods allow for overcoming genetic obstacles to conception and significantly increase the chances of successful pregnancy.

Where are the diagnosis and treatment conducted?

The "Natuvitro" clinic hosts a geneticist and offers laboratory analyses to identify the genetic causes of infertility. The specialists at the clinic will help identify any hereditary factors affecting reproductive health and choose an effective treatment strategy.