Pericentric inversion in chromosome 1 and male
               infertility

Li, Ranwei; Fan, Haitao; Zhang, Qiushuang; Yang, Xiao; Zhan, Peng; Feng, Shuqiang

doi:10.1515/med-2020-0404

Cited by 6 publications

(5 citation statements)

References 43 publications

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“…Although some cases with inversion of chromosome 10 show normal fertility, these carriers have a higher reproductive risk. For structural reorganization carriers, the mechanism of chromosomal abnormality affecting spermatogenesis includes the following: (1) an interchromosomal effect increases the risk of numerical chromosomal abnormalities in the gametes, (2) disturbance of chromosomal pairing, synapsis, and recombination during meiosis, (3) DNA fragmentation in spermatozoa and activation of apoptosis, and (4) interference of specific gene function at the breakpoint [ 4 , 20 ]. However, Young et al [ 7 ] reported that infertile carriers with chromosomal inversions are not susceptible to an interchromosomal effect.…”

Section: Discussionmentioning

confidence: 99%

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Fertility problems in males carrying an inversion of chromosome 10

et al. 2021

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Chromosomal inversion is closely related to male infertility. Inversion carriers may produce abnormal gametes, which may lead to partial duplication/deletion of the embryonic chromosome and result in spontaneous abortion, a fetus with multiple anomalies, or birth of a malformed child. Genetic counselling remains challenging for these carriers in clinical practice. We report two male carriers with inversion of chromosome 10 and review 26 reported cases. In the first case, 46,XX,inv(10)(p13q22) of the fetal chromosome was found in prenatal diagnosis; this was inherited from the paternal side with 46XY,inv(10)(p13q22). Another case was a male carrier with inv(10)(q21.2q22.1). There have been 25 (89.3%) cases of pericentric inversion and three (10.7%) cases of paracentric inversion involving chromosome 10. Of 28 cases, nine were associated with pregestational infertility of the couples, while the other 19 cases were associated with gestational infertility of the couples or normozoospermia. The breakpoints at 10p15, 10p11, 10q11, and 10q21 were associated with pregestational infertility of the couples. The breakpoints at 10p15, 10p14, 10p13, 10p12, 10p11, 10q11, 10q21, 10q22, 10q23, 10q24, 10q25, and 10q26 were related to gestational infertility of the couples or normozoospermia. Although there is a high risk of infertility or recurrent miscarriages, carriers with inversion of chromosome 10 might produce healthy offspring. Natural pregnancy can be used as a choice for inversion carriers with recurrent spontaneous abortion.

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Section: Discussionmentioning

confidence: 99%

“…Chromosomal disorders are considered to be an important genetic factor leading to defects of spermatogenesis. Chromosomal inversion and its breakpoint are closely related to male infertility [ 4 , 5 , 6 ].…”

Section: Introductionmentioning

confidence: 99%

Fertility problems in males carrying an inversion of chromosome 10

et al. 2021

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“…Nineteen individuals had non-mosaic Klinefelter syndrome (47,XXY), nine had AZF microdeletions (seven AZFc microdeletions; two AZF b and c microdeletions), one had translocation (20;22)(q11.2;p11.1) [14], and one had inversion (1)(p22q44) [15].…”

Section: Genetic Spermatogenic Failure (N = 30)mentioning

confidence: 99%

Contribution of serum anti-Müllerian hormone in the management of azoospermia and the prediction of testicular sperm retrieval outcomes: a study of 155 adult men

Benderradji

Prasivoravong

Marcelli

et al. 2021

Basic Clin. Androl.

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Background Testicular sperm extraction (TESE) is the method of choice for recovering spermatozoa in patients with azoospermia. However, the lack of reliable biomarkers makes it impossible to predict sperm retrieval outcomes at TESE. To date, little attention has been given to anti-Müllerian hormone (AMH) serum levels in adult men with altered spermatogenesis. In this study we aimed to investigate whether serum concentrations of AMH and the AMH to total testosterone ratio (AMH/T) might be predictive factors for sperm retrieval outcomes during TESE in a cohort of 155 adult Caucasian men with azoospermia. Results AMH serum levels were significantly lower in nonobstructive azoospermia (NOA) that was unexplained, cryptorchidism-related, cytotoxic and genetic (medians [pmol/l] = 30.1; 21.8; 26.7; 7.3; and p = 0.02; 0.001; 0.04; <0.0001, respectively]) compared with obstructive azoospermia (OA) (median = 44.8 pmol/l). Lowest values were observed in cases of genetic NOA (p < 0.0001, compared with unexplained NOA) and especially in individuals with non-mosaic Klinefelter syndrome (median = 2.3 pmol/l, p <0.0001). Medians of AMH/T values were significantly lower in genetic NOA compared to unexplained, cryptorchidism-related NOA as well as OA. Only serum concentrations of AMH differed significantly between positive and negative groups in men with non-mosaic Klinefelter syndrome. The optimal cut-off of serum AMH was set at 2.5 pmol/l. The sensitivity, specificity, positive predictive value, negative predictive value and accuracy of this cut-off to predict negative outcomes of SR were 100 %, 76.9 %, 66.6 %, 100 and 84.2 %, respectively. Conclusions Serum AMH levels, but not AMH/T values, are a good marker for Sertoli and germ cell population dysfunction in adult Caucasian men with non-mosaic Klinefelter syndrome and could help us to predict negative outcomes of SR at TESE with 100 % sensitivity when serum levels of AMH are below 2.5 pmol/l.

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“…Male infertility is a common clinical problem in urological practice, and is a pathological condition with a genetic background. [ 1 ] Chromosomal aberration is reported to one of the common causes in infertile men, [ 2 ] and is detected in 14% of infertile patients. [ 3 ] Reciprocal balanced translocation is one of the most frequently occurring human chromosomal abnormalities.…”

Section: Introductionmentioning

confidence: 99%

Association between chromosome 22q11.2 translocation and male oligozoospermia

et al. 2022

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Chromosomal aberrations in peripheral blood are a major cause of reproductive disorders for the infertile couples. Reciprocal translocation is closely related to male infertility. The breakpoint of translocation may disrupt or dysregulate important genes related to spermatogenesis. The relationship between some breakpoints of chromosome and male infertility has been paid attention. Chromosome 22q11.2 translocation has not been reported with male infertility. The purpose of this study is to evaluate the relationship between chromosome 22q11.2 translocation and male infertility. All patients were collected from the second hospital of Jilin University. Semen parameters were detected using the computer-aided semen analysis system. Cytogenetic analysis was performed using standard operating procedure. Related genes on chromosomal breakpoints were searched using online mendelian inheritance in man (OMIM). The association between this breakpoint and spermatogenesis is also discussed. We report 6 cases of translocation in chromosome 22. Of 7 breakpoints involved in these translocations, the common feature is that they all included chromosome 22q11.2 translocation and presented with oligozoospermia. The analysis of breakpoint related genes showed testis-specific serine/threonine kinase 2 ( TSSK2 ) gene is associated with human spermatogenesis impairment. Overall, these results suggest that the breakpoint involved in translocation deserves attention from physicians in genetic counseling. The breakpoint rearrangement has the possibility of disrupting spermatogenesis. The relationship between 22q11.2 breakpoint and male infertility deserves further study.

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Pericentric inversion in chromosome 1 and male infertility

Cited by 6 publications

References 43 publications

Fertility problems in males carrying an inversion of chromosome 10

Fertility problems in males carrying an inversion of chromosome 10

Contribution of serum anti-Müllerian hormone in the management of azoospermia and the prediction of testicular sperm retrieval outcomes: a study of 155 adult men

Association between chromosome 22q11.2 translocation and male oligozoospermia

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