The clinical and laboratory features as well as the diagnostic and therapeutic approach of men with XYY syndrome have not been fully described. A 41-year-old infertile man was diagnosed as having a 47,XYY karyotype and a micro-prolactinoma. His 32-year-old wife had a history of five spontaneous pregnancies, all resulting in first trimester miscarriages. Three in-vitro fertilization (IVF) attempts were made with no biochemical pregnancy. During the third attempt, a pre-implantation genetic diagnosis (PGD) was performed by fluorescent in-situ hybridization (FISH) technique. Only one out of six (16%) embryos had normal karyotype.
Conclusions: (1) Karyotypic analysis of both partners is a sine qua non investigation for recurrent miscarriages; (2) the XYY syndrome results in high frequency of embryo aneuploidy; (3) PGD by FISH can contribute to the transferring of chromosomally normal embryos in cases of parental chromosomal defects; (4) investigation for a prolactinoma should be considered in men with XYY syndrome.