Success of Testicular Sperm Injection and Intracytoplasmic Sperm Injection in Men with Klinefelter Syndrome

Purpose: The aim of this study was to investigate the feasibility of using frozen-thawed testicular sperm as well as the timing of testicular sperm extraction (TESE) in patients with non-mosaic Klinefelter syndrome.Methods: Intracytoplasmic sperm injection (ICSI) was performed in six of 17 (35%) patients whose sperm was recovered by TESE. Multiple biopsies of both testes were performed on the day of oocyte retrieval in all but one of the six patients.Results: Seven pregnancies and deliveries were achieved in five couples, and one couple was unsuccessful. Five pregnancies were achieved using fresh motile sperm, and two were achieved using frozen-thawed sperm. Sperm cryopreservation was not possible in one of the five couples because of the small number of recovered sperm, and possible in four other couples for subsequent ICSI. One woman whose husband had TESE performed prior to ovarian stimulation did not become pregnant. This may be due to the attainment Conclusion: The outcome of ICSI using fresh or frozenthawed testicular sperm in patients with non-mosaic Klinefelter syndrome was identical; however, TESE should be performed on the day of oocyte retrieval until such time as a procedure with a higher sperm yield from TESE is available. Moreover, an improved recovery procedure after cryopreservation-thawing of a single spermatozoon must be developed.

Section: Discussionmentioning

confidence: 99%

“…In an attempt to improve the sperm retrieval rate, in January 2006 we began using microdissection TESE. Pretreatment with an aromatase inhibitor, clomiphene citrate, hCG, and rFSH before TESE may improve the sperm retrieval rate [21,22,23].…”

Section: Discussionmentioning

confidence: 99%

Seven pregnancies and deliveries from non-mosaic Klinefelter syndrome patients using fresh and frozen testicular sperm

Kyono

Uto

Nakajo

et al. 2006

“…The prevalence of KS among infertile men is very high, up to 5 % in severe oligozoospermia and 10 % in azoospermia [23]. This karyotype arises spontaneously when paired X chromosomes fail to disjoin in the first or second phase of meiosis during oogenesis or spermatogenesis.…”

Section: Klinefelter's Syndrome (Ks)mentioning

confidence: 99%

A multi-faceted approach to understanding male infertility: gene mutations, molecular defects and assisted reproductive techniques (ART)

Tahmasbpour

Balasubramanian

Agarwal

2014

Background The assisted reproductive techniques aimed to assist infertile couples have their own offspring carry significant risks of passing on molecular defects to next generations. Results Novel breakthroughs in gene and protein interactions have been achieved in the field of male infertility using genome-wide proteomics and transcriptomics technologies. Conclusion Male Infertility is a complex and multifactorial disorder.Significance This review provides a comprehensive, up-todate evaluation of the multifactorial factors involved in male infertility. These factors need to be first assessed and understood before we can successfully treat male infertility.

“…With the TESE procedure, sperm can be recovered from the testes of non-mosaic KS (47,XXY) men in about 50 % of the cases [33,34]. However, it is widely reported that men with KS have higher rates of sex and autosomal aneuploidy [5][6][7][8][9][10][11].…”

Section: Discussionmentioning

confidence: 99%

“…Six of them had spermatozoa in their testicular tissue (positive) and the remaining five had none (negative). The mean age was 33.2 years (range [27][28][29][30][31][32][33][34][35][36][37][38] for the positive group and 33.0 years (range 27-38) for the negative group. All 11 men had been diagnosed as being azoospermic after at least two consecutive semen analyses, with an abnormal 47,XXY constitutional blood karyotype.…”

Section: Infertile Patientsmentioning

confidence: 99%

Ploidy of spermatogenic cells of men with non-mosaic Klinefelter’s syndrome as measured by a computerized cell scanning system

Komsky-Elbaz

Raziel

Ben‐Ami

et al. 2015

Purpose This study aims to characterize the origin of testicular post-meiotic cells in non-mosaic Klinefelter's syndrome (KS). Methods The study included testicular tissue specimens from 11 non-mosaic KS patients, with (6 positive) and without (5 negative) spermatozoa presence. The obtained testicular cells were affixed and stained for morphology followed by fluorescence in situ hybridization (FISH) for centromeric probes X, Y, and 18. We used a computerized automated cell scanning system that enables simultaneous viewing of morphology and FISH in the same cell. Results A total of 12,387 cells from the positive cases, 11,991 cells from the negative cases, and 1,711 cells from the controls were analyzed. The majority of spermatogonia were 47, XXY in both the positive and negative KS cases (88.9±4.76 % and 90.6±4.58 %) as were primary spermatocytes (76.8±8.14 % and 79.6±7.30 %). The respective rates of secondary spermatocytes and post-meiotic cells (round, elongating spermatids and sperm cells) were 1.1±1.39 % in the positive cases, 2.9±3.33 % in the negative cases, compared to 67.6±6.22 % in the controls (P<0.02). Pairing of both 18 and XY homologous chromosomes in 46,XY primary spermatocytes was 2.5 ±2.31 % and 3.4±2.39 %, respectively, compared to 19.8± 8.95 % in the control group (P<0.02) and in 47,XXY primary spermatocytes in 2.4±3.8 % in the positive group and 3.2± 2.26 % in the negative group. Conclusions This study presents data to indicate that the majority of primary spermatocytes in the testes of non-mosaic KS patients are 47,XXY and could possibly develop into postmeiotic cells.