Nonmosaic 47,XYY syndrome presenting with male infertility: case series

In this study, we describe nine patients with 47,XYY presenting with male infertility. All patients were subjected to history taking, clinical examination, duplex ultrasonographic examination of the scrotum, endocrinological investigations and cytogenetic analysis of peripheral lymphocytes. Two patients tried intracytoplasmic sperm injection (ICSI). Our results showed that seven patients were oligospermic and two patients were azoospermic. Bilateral varicocele was detected in seven patients. The hormonal levels in the majority of the patients were within normal range. Two patients showed improvement after varicocelectomy. The wife of one of the oligospermic patients became successfully pregnant after the first trial of ICSI. In conclusion, this report suggests that patients with XYY may present with primary infertility and may show oligospermia and nonobstructive azoospermia. Careful clinical, ultrasonographic, endocrinological and cytogenetic examinations should be a part of their diagnostic work-up for the proper management of these patients. In addition, ICSI may be a hope for some of these patients.