Background: Patients with Yq microdeletions may suffer from fertility problems. The purpose of this study was to assess the outcome of the fertility treatment of these patients.
Methods: For 38 patients with Yq microdeletions, data were collected about medical history, karyotype, testicular histopathology and the presence of spermatozoa in the ejaculate or testicular biopsies.
Results: Sixteen patients with an azoospermia factor region c (AZFc) deletion had at least one cycle with ICSI. The clinical pregnancy outcome was 22% per embryo transfer. Three babies have been born and two pregnancies are ongoing. Sex selection for female embryos in combination with ICSI in order to prevent the transmission of the fertility problems was discussed with 14 couples; eight were in favour of the selection. In addition, eight couples made the decision to use donor sperm because ICSI was impossible or objectionable and, in this group of patients, a total of nine babies were born.
Conclusions: Despite the improvement of assisted reproductive technology, ICSI could be offered only to patients with an AZFc deletion. Insemination with donor sperm is a potential alternative for other patients.