Presentation and treatment of subfertile men with balanced translocations: the cleveland clinic experience.

INTRODUCTION: Balanced chromosomal translocations are a relatively common (2-7%) finding among infertile couples. We report clinical features of males with translocations at our institution.

MATERIALS AND METHODS: Data was collected on men presenting for infertility evaluation between July 2006 March 2010, including presentation, medical history, and infertility treatments. Criteria for genetic evaluation, consisting of karyotype and Y-linked microdeletion assay, included severe oligozoospermia or azoospermia (sperm concentration < 2.5×106/ml) or a history of recurrent miscarriages.

RESULTS: Of the 4,612 patients in our male infertility clinic 306 met criteria for genetic evaluation. Three patients had a balanced translocation, of which 2 had Robertsonian translocations, and 1 had a balanced translocation. One patient had normal bulk semen parameters, normal volume azoospermia, and oligoasthenoteratozoospermia. All patients were offered medical genetics consultation. Potential pregnancy outcomes were evaluated using a predictive software package. One patient had intratubular germ cell neoplasia and underwent orchiectomy; subsequent fertility evaluation has been deferred. The other 2 are considering in-vitro fertilization with pre-implantation genetic evaluation.

CONCLUSIONS: Given the low incidence of balanced translocations detected in our population, better clinical indicators other than semen parameters or history of recurrent pregnancy loss are needed to determine screening for this finding.