THE OUTCOMES OF MICRODISSECTION TESE AND PREIMPLANTATION GENETIC DIAGNOSIS FOR PATIENTS WITH KLINEFELTER’S SYNDROME

Introduction: Testicular sperm extraction (TESE) for intracytoplasmic sperm injection (ICSI) was first introduced for treatment of obstructive azoospermia and then testicular sperm were retrieved successfully for ICSI in patients with non-obstructive azoospermia (NOA). This approach opened a new era in the treatment of patients with NOA.

The aim of this study is to investigate the efficiency of testicular sperm retrieval techniques, ART outcome of couples and Preimplantation Genetic Diagnosis (PGD) of the couples in which male partner has Klinefelter’s Syndrome.

Materials and Methods: A retrospective analysis was realized in Istanbul Memorial Hospital Assisted Reproductive Technology, Reproductive Genetics and Andrology Units between June 2002 and January 2003. Thirteen couples in which male partners are diagnosed as mosaic/non-mosaic Klinefelter’s Syndrome with 47, XXY karyotype were included in this study. Patients underwent genital examination and testicular volume was determined by prader orchidometer. Hormonal analysis for serum levels of FSH and total testosterone were also assessed. Microdissection testicular sperm extraction (Micro TESE) procedure was applied in order to investigate if any larger and more opaque seminiferous tubules in the testis to retrieve spermatozoa. In patients with sperm recovery, ICSI was performed. Embryos were evaluated in terms of further development, and in 3 cases, PGD was performed for 16 embryos to diagnose chromosomal abnormality.

Results: Eleven cases were diagnosed Classic type of Klinefelter’s Syndrome (47, XXY) and two cases were diagnosed as Mosaic type of Klinefelter’s Syndrome (46, XY / 47, XXY). The median age of the male and female was 32.7±4.7, 28.3±3.3 years respectively. Testicular volume was measured 3±0.5 ml for both sides. Seven out of 13 of the patients (54%) were performed testicular biopsy previously.

In eight out of thirteen cases testicular spermatozoa were successfully recovered by Micro TESE (61.5%). After ICSI was performed, the fertilization of the oocytes was 58.7%. Three couples requested PGD and out of 16 embryos evaluated only one had 47, XXY chromosomal complement and eleven embryos were diagnosed as normal chromosomal complement. Selected embryos were transferred and two single pregnancies were achieved in eight cases (25%).

Conclusions: Micro TESE may have advantages than other procedures in terms of higher sperm recovery rate and less testicular tissue extraction in patients with Klinefelter’s Syndrome. Previous diagnostic biopsy procedures in patients with Klinefelter’s Sydrome may not be suitable because of small testicular volume and there is no predictive value in terms of sperm retrieval. Although PGD results did not showed increased incidence of chromosomal abnormality of the embryos, PGD may suggest eliminating abnormal embryos before they were transferred.