Worldwide, the prevalence of couples who remain involuntarily childless over a period of twelve months ranges from 3,5% to 16,7%. The reasons for involuntary childlessness in patients seeking assisted reproductive technology can be attributed to male infertility in 11%, to female infertility in 24% and to both partners in 40%. However, in 25% of cases, the reason for infertility remains unidentified. Genetic testing is of special importance concerning treatment options and preventative measures for the patient as well as for the offspring.

Genetic changes are frequent causes of fertility problems. Genetic counseling combined with chromosome analysis is indicated in infertile or subfertile couples. In case of a normal karyotype, molecular diagnostics can be performed owing to the clinical picture. Premature ovarian failure might be caused by premutations in the FMR1 gene, while polycystic ovaries combined with other symptoms of lateonset AGS result from mutations in the CYP21A2 gene. In azoospermic or oligospermic men without chromosomal abnormalities, analyses of the CFTR gene and the AZF region are indicated.

The diagnostic measures in couples that are involuntarily childless are usually initiated by the gynecologist, andrological urologist, the dermatologist or the human geneticist. Therapy is predominantly performed at specialized centers of assisted reproduction, as in 50% of cases, medical treatment of childlessness results in assisted reproduction.

Figure : Adapted from Wegner et al, 2015

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