Testicular sperm from patients with obstructive and nonobstructive azoospermia: aneuploidy risk and reproductive prognosis using testicular sperm from fertile donors as control samples

Rodrigo, Lorena; Rubio, Carmen; Peinado, Vanessa; Villamón, Rafael; Al‐Asmar, Nasser; Remohı́, J.; Pellicer, António; Simón, Carlos; Gil-Salom, Manuel

doi:10.1016/j.fertnstert.2010.10.022

Cited by 49 publications

(21 citation statements)

References 76 publications

(89 reference statements)

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“…Because KS is an indication for prenatal diagnosis (Lanfranco et al, 2004) or preimplantation genetic screening (Kahraman et al, 2003; Staessen et al, 2003; Donoso et al, 2006), the same should be true for NOA (Munne, 2003; Donoso et al, 2006). In contrast, our present results and literature data (Rodrigo et al, 2011) suggest that OA is associated with a low aneuploidy risk and does not require prescription of a prenatal diagnosis. Prior to testicular biopsy and ISCI procedure, it is important to establish the etiology of azoospermia, and thus evaluate the offspring's aneuploidy risk.…”

Section: Discussioncontrasting

confidence: 96%

“…Given that the frequency of aneuploidy differs from one sperm chromosome to another (Downie et al, 1997a), with some chromosomes (such as X, Y, and 21) being predisposed to higher aneuploidy rates (Downie et al, 1997b), and a 7% aneuploidy rate for control patients (Pang et al, 1999), we tried to estimate an overall aneuploidy rate. Then, assuming 1) a 1.20% aneuploidy frequency for chromosome 18 in patients with altered spermatogenesis, 2) an identical risk for each autosome, 3) high spermatozoa aneuploidy rates similar to those observed in the previous series for NOA patients (Rodrigo et al, 2011), and 4) a 0.10% aneuploidy frequency for chromosome 18 in controls, the overall aneuploidy rate may be as high as 25%. Thus, the genetic risk should be discussed with each couple before enrollment in a TESE‐ICSI program.…”

Section: Discussionmentioning

confidence: 53%

“…Further, an elevated sperm aneuploidy rate has also been observed in patients with nonobstructive oligospermia (Miharu, 2005) or azoospermia with a normal karyotype (Burrello et al, 2005) and may explain the increased aneuploidy rate (especially sex chromosome aneuploidy) observed in ICSI‐conceived children using ejaculated sperm (Liebaers et al, 1995) or nonejaculated sperm (Belva et al, 2011). It was recently reported that nonobstructive azoospermia (NOA) patients have a significantly supranormal testicular sperm aneuploidy rate (Rodrigo et al, 2011). However, contrary to Klinefelter patients, no prenatal diagnosis or preimplantation genetic screening were proposed.…”

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confidence: 99%

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The High Frequency of Sperm Aneuploidy in Klinefelter Patients and in Nonobstructive Azoospermia Is Due to Meiotic Errors in Euploid Spermatocytes

Vialard

Bailly

Bouazzi

et al. 2012

Journal of Andrology

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For nonobstructive azoospermic (NOA) patients with a normal karyotype or for Klinefelter syndrome (47,XXY) patients, intracytoplasmic sperm injection is associated with an increased aneuploidy risk in offspring. We examined testicular cells from patients with different azoospermia etiologies to determine the origin of the aneuploid spermatozoa. The incidence of chromosome abnormalities was investigated in all types of azoospermia. Four study subgroups were constituted: Klinefelter patients (group 1), NOA patients with spermatogenesis failure but a normal karyotype (group 2), obstructive azoospermic patients with normal spermatogenesis (group 3), and control patients with normal sperm (group 4). The pachytene stage (in the three azoospermic groups) and postmeiotic cells (in all groups) were analyzed with fluorescence in situ hybridization. No aneuploid pachytene spermatocytes were observed. Postmeiotic aneuploidy rates were higher in the two groups with spermatogenesis failure (5.3% and 4.0% for groups 1 and 2, respectively) than in patients with normal spermatogenesis (0.6% for group 3 and group 4). Whatever the etiology of the azoospermia, the spermatozoa originated from euploid pachytene spermatocytes. These results strengthen the hypothesis whereby sperm aneuploidy in both Klinefelter patients and NOA patients with a normal karyotype results from meiotic abnormalities and not from aneuploid spermatocytes. The fact that sperm aneuploidy was more frequent when spermatogenesis was altered suggests a deleterious testicular environment. The study results also provide arguments for offering preimplantation genetic diagnosis or prenatal diagnosis when a pregnancy occurs for fathers with NOA (whatever the karyotype).

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Section: Discussioncontrasting

confidence: 96%

Section: Discussionmentioning

confidence: 53%

mentioning

confidence: 99%

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The High Frequency of Sperm Aneuploidy in Klinefelter Patients and in Nonobstructive Azoospermia Is Due to Meiotic Errors in Euploid Spermatocytes

Vialard

Bailly

Bouazzi

et al. 2012

Journal of Andrology

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“…It is predicted that men with NOA will have poorer outcomes. It has been found that men with NOA often have aneuploidy, mosaicism and Y microdeletions that contribute to decreased fertilisation rates (Levron et al ., ; Palermo et al ., ; Martin et al ., ; Silber et al ., ; Sánchez‐Castro et al ., ; Rodrigo et al ., ). In addition, it is predicted that increasing maternal age will have a negative impact on these results.…”

Section: Introductionmentioning

confidence: 97%

ICSI outcomes in men undergoing TESE for azoospermia and impact of maternal age

et al. 2016

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This retrospective study compared clinical outcomes in men with obstructive and nonobstructive azoospermia after ICSI following testicular sperm extraction and the influence of maternal age. Fertilisation rates, embryo quality, pregnancy rates, miscarriage rates and live birth rates were evaluated. Men with obstructive azoospermia (OA) had significantly higher rates of diploid fertilisation and clinical pregnancy than men with nonobstructive azoospermia (NOA), but miscarriage rates and live birth rates were not significantly different. The higher rates of fertilisation, embryo quality and clinical pregnancy in men with OA were statistically significant when their female partners were <35 years but results were similar in both groups when female partners ≥35 years. Although the OA group had better overall quality embryos than the NOA group when maternal age was <35 years, embryologists can select the morphologically better embryos for transfer, eliminating the effect of embryo quality differences present in these two groups. Understanding more about factors that affect TESE/ICSI outcomes will not only help us predict patients' outcomes but it can help us educate and better counsel our patients.

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“…Compromised testicular endocrine environment and incomplete maturation of spermatozoa might in part explain elevated testicular aneuploidy [Rodrigo et al 2011]. Any alterations in spermatogenesis could lead to vulnerability of chromosomes to meiotic errors during cell division and proliferation [Egozcue et al 2003].…”

Section: Discussionmentioning

confidence: 99%

A comparison of ejaculated and testicular spermatozoa aneuploidy rates in patients with high sperm DNA damage

Moskovtsev¹,

Alladin²,

Lo³

et al. 2012

Systems Biology in Reproductive Medicine

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Testicular spermatozoa are utilized to achieve pregnancy in couples with severe male factor infertility. Several studies suggest that aneuploidy rates in spermatozoa are elevated at the testicular level in infertile patients compared to ejaculates of normal controls. However, essential data regarding aneuploidy rates between ejaculated and testicular spermatozoa in the same individuals is lacking. The purpose of our study was to compare aneuploidy rates at the testicular and post-testicular level from the same patients with persistently high sperm DNA damage. Ejaculates and testicular biopsies were obtained from eight patients with persistently high DNA damage (>30%). Both ejaculated and testicular samples were analyzed for sperm DNA damage and sperm aneuploidy for chromosomes 13, 18, 21, X, and Y. In addition, semen samples from ten normozoospermic men presenting for fertility evaluation served as a control group. A strong correlation between the alteration of spermatogenesis and chromatin deterioration was observed in our study. In the same individuals, testicular samples showed a significantly lower DNA damage compared to ejaculated spermatozoa (14.9% ± 5.0 vs. 40.6% ± 14.8, P < 0.05), but significantly higher aneuploidy rates for the five analyzed chromosomes (12.41% ± 3.7 vs. 5.77% ± 1.2, P < 0.05). While testicular spermatozoa appear favourable for ICSI in terms of lower DNA damage, this potential advantage could be offset by the higher aneuploidy rates in testicular spermatozoa.

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Testicular sperm from patients with obstructive and nonobstructive azoospermia: aneuploidy risk and reproductive prognosis using testicular sperm from fertile donors as control samples

Cited by 49 publications

References 76 publications

The High Frequency of Sperm Aneuploidy in Klinefelter Patients and in Nonobstructive Azoospermia Is Due to Meiotic Errors in Euploid Spermatocytes

The High Frequency of Sperm Aneuploidy in Klinefelter Patients and in Nonobstructive Azoospermia Is Due to Meiotic Errors in Euploid Spermatocytes

ICSI outcomes in men undergoing TESE for azoospermia and impact of maternal age

A comparison of ejaculated and testicular spermatozoa aneuploidy rates in patients with high sperm DNA damage

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