In about 15% of all couples, the desire for a child remains unfulfilled and in half of these couples, a male factor contributes essentially to the infertility. Usually, this is caused by a broad range of certain limitations of the ejaculate's quality such as a low sperm count or reduced mobility of the spermatids. Currently, genetic causes are found in only 5% of all men seeking fatherhood. In men not having any sperm cells in the ejaculate (azoospermia), the proportion of known genetic causes is currently around 20%. Common diagnoses include chromosomal disorders such as Klinefelter's syndrome (chromosome set 47,XXY) and microdeletions of the Y chromosome (so-called AZF deletions).

Figure 1: Causal diagnoses in azoospermic men (extended within the current work of the CRU326).

However, especially in azoospermic men, currently unknown genetic causes definitely play a major role for their infertility. By now we can already offer infertile male patients the analysis of  highly relevant so-called gene panels, which contain the most important genes associated with infertility. This enables a more precise assessment of the chances and risks of in vitro fertilisation, better counseling of the male patient and the couple, and evidence-based therapy decisions. Since it is relevant for the therapy - but also for possible further inheritance - which genetic cause is responsible for the infertility, it is our goal to significantly reduce the proportion of unexplained cases of male infertility. On the following pages you can find out on which projects we are currently concentrating on, in order to shed more light on the situation.