Genetic causes

Genetic causes play an important role in women when it comes to infertility. Changes in genetic material can impair egg maturation, hormone balance, or embryo development. Some genetic disorders lead to a reduced egg reserve, while others increase the risk of miscarriage.

A well-known genetic cause is Turner syndrome, in which one X chromosome is completely or partially missing. Affected women often have significantly impaired ovarian function. Chromosomal changes such as translocations or deletions can also reduce fertility or cause repeated miscarriages.

In addition to chromosomal disorders, premature ovarian failure (POF) can also be the cause of infertility in women. This refers to the cessation of ovarian function before the age of 40. The causes of this are varied, but genetic factors play a central role. Women with premature ovarian failure may be carriers of a so-called premutation in the fragile X syndrome gene (FMR1 gene). Cases of premature ovarian failure have also been described in triple X syndrome.

Furthermore, genetic changes in the FSH receptor can also be associated with premature ovarian failure. The FSH receptor is necessary for follicular development in the ovaries. Genetic causes should therefore always be considered in cases of infertility and primary ovarian insufficiency. This is particularly important for women who are carriers of a premutation for fragile X syndrome, as they have a significantly increased risk (up to 50%) of having a child with severe fragile X syndrome in the event of pregnancy.

Dr. Leonhard Loimer holds the ÖÄK diploma in genetics, which covers the fundamentals of human genetics, family tree analysis, genetics in pediatrics, neoplasms and tumor predisposition, care of mutation patients and families, epidemiology, law, and ethics. He is available to provide you with comprehensive advice.