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      Microdissection testicular sperm extraction in five Japanese patients with non‐mosaic Klinefelter's syndrome

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          Abstract

          Cases

          Microdissection testicular sperm extraction (micro‐ TESE) was performed on five Japanese men with non‐mosaic Klinefelter's syndrome ( KS) and non‐obstructive azoospermia in the authors' department. Here is reported the operative results and partner's clinical course for two cases where spermatozoa could be acquired. Also encountered was a man with non‐mosaic KS with the partial deletion of azoospermia factor ( AZF)b. Because this is rare, it is reported in detail in the context of the previous literature. This case series describes the first experience of micro‐ TESE by gynecologists in the current department.

          Outcome

          The egg collection date was adjusted to the micro‐ TESE day by using the modified ultra‐long method. Intracytoplasmic sperm injection ( ICSI) was implemented for two men whose spermatozoa were acquired by micro‐ TESE, with these progressing to the blastocyst stage. Subsequently, one case conceived after the transfer of fresh embryos and a healthy baby was delivered. However, spermatozoa could not be retrieved from the man with non‐mosaic KS who was harboring the partial deletion of AZFb.

          Conclusion

          These findings suggest that ovulation induction by using the modified ultra‐long method with micro‐ TESE and ICSI on the same day represents an effective treatment option for men with non‐mosaic KS. As there are cases where AZF deletion is recognized among patients with non‐mosaic KS, screening before micro‐ TESE is strongly recommended.

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          Most cited references 31

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          Incidence and main causes of infertility in a resident population (1,850,000) of three French regions (1988-1989).

          To estimate the prevalence and main causes of infertility, a multicentre survey was conducted over 1 year (July 1988-June 1989) in three regions of France. All the 1686 couples in these regions, who consulted a practitioner for primary or secondary infertility during this period, were included in the investigation. The prevalence rate of infertility was found to be 14.1%, indicating that one woman out of seven in France will consult a doctor for an infertility problem during her reproductive life. The main causes of female infertility were ovulation disorders (32%) and tubal damage (26%), and of male infertility oligo-terato-asthenozoospermia (21%), asthenozoospermia (17%), teratozoospermia (10%) and azoospermia (9%). Infertility was also found to be caused by disorders in both the male and female partners together; thus in 39% of cases both the man and woman presented with disorders. The woman alone was responsible for infertility in one-third of cases and the man alone in one-fifth. Unexplained infertility was found in 8% of the couples surveyed.
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            EAA/EMQN best practice guidelines for molecular diagnosis of y-chromosomal microdeletions. State of the art 2004.

            Microdeletions of the Y chromosome are the second most frequent genetic cause of spermatogenetic failure in infertile men after the Klinefelter syndrome. The molecular diagnosis of Y-chromosomal microdeletions is routinely performed in the workup of male infertility in men with azoospermia or severe oligozoospermia. Since 1999, the European Academy of Andrology (EAA) and the European Molecular Genetics Quality Network (EMQN) support the improvement of the quality of the diagnostic assays by publication of the laboratory guidelines for molecular diagnosis of Y-chromosomal microdeletions and by offering external quality assessment trials. The present revision of the 1999 laboratory guidelines summarizes the results of a 'Best Practice Meeting' held in Florence (Italy) in October 2003. The basic protocol for microdeletion screening suggested in the 1999 guidelines proved to be very accurate, sensitive and robust. In the light of the recent advance in the knowledge of the Y chromosome sequence and of the mechanism of microdeletion it was agreed that the basic 1999 protocol, based on two multiplex polymerase chain reactions each covering the three AZF regions, is still fully valid and appropriate for accurate diagnosis.
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              Successful fertility treatment for Klinefelter's syndrome.

              We examined preoperative factors that could predict successful microdissection testicular sperm extraction in men with azoospermia and nonmosaic Klinefelter's syndrome. We also analyzed the influence of preoperative hormonal therapy on the sperm retrieval rate. A total of 91 microdissection testicular sperm extraction attempts were done in 68 men with nonmosaic Klinefelter's syndrome. Men with serum testosterone less than 300 ng/dl received medical therapy with aromatase inhibitors, clomiphene or human chorionic gonadotropin before microdissection testicular sperm extraction. Preoperative factors of patient age and endocrinological data were compared in those in whom the procedure was and was not successful. The sperm retrieval rate was the main outcome. Clinical pregnancy (pregnancy with heartbeat) and the live birth rate were also calculated. Testicular spermatozoa were successfully retrieved in 45 men (66%), representing 62 (68%) attempts. Increasing male age was associated with a trend toward a lower sperm retrieval rate (p = 0.05). The various types of preoperative hormonal therapies did not have different sperm retrieval rates but men with normal baseline testosterone had the best sperm retrieval rate of 86%. Patients who required medical therapy and responded to that treatment with a resultant testosterone of 250 ng/dl or higher had a higher sperm retrieval rate than men in whom posttreatment testosterone was less than 250 ng/dl (77% vs 55%). For in vitro fertilization attempts in which sperm were retrieved the clinical pregnancy and live birth rates were 57% and 45%, respectively. Microdissection testicular sperm extraction is an effective sperm retrieval technique in men with Klinefelter's syndrome. Men with hypogonadism who respond to medical therapy may have a better chance of sperm retrieval.
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                Author and article information

                Contributors
                chihara-m@med.niigata-u.ac.jp
                Journal
                Reprod Med Biol
                Reprod. Med. Biol
                10.1111/(ISSN)1447-0578
                RMB2
                Reproductive Medicine and Biology
                John Wiley and Sons Inc. (Hoboken )
                1445-5781
                1447-0578
                08 March 2018
                April 2018
                : 17
                : 2 ( doiID: 10.1111/rmb2.2018.17.issue-2 )
                : 209-216
                Affiliations
                [ 1 ] Department of Obstetrics and Gynecology Niigata University Medical and Dental Hospital Niigata Japan
                Author notes
                [* ] Correspondence

                Makoto Chihara, Department of Obstetrics and Gynecology, Niigata University Medical and Dental Hospital, Niigata, Japan.

                Email: chihara-m@ 123456med.niigata-u.ac.jp

                Article
                RMB212092
                10.1002/rmb2.12092
                5902470
                © 2018 The Authors. Reproductive Medicine and Biology published by John Wiley & Sons Australia, Ltd on behalf of Japan Society for Reproductive Medicine.

                This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes.

                Page count
                Figures: 2, Tables: 5, Pages: 8, Words: 6081
                Product
                Categories
                Case Report
                Case Report
                Custom metadata
                2.0
                rmb212092
                April 2018
                Converter:WILEY_ML3GV2_TO_NLMPMC version:version=5.3.4 mode:remove_FC converted:16.04.2018

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