Total globozoospermia associated with increased frequency of immature spermatozoa with chromatin defects and aneuploidy: a case report

Vozdová, Miluše; Rybar, R.; Kloudová, Soňa; Prinosilova, P.; Texl, P; Rubeš, Jiřı́

doi:10.1111/and.12156

Cited by 23 publications

(33 citation statements)

References 40 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…We found a statistically significant difference in total aneuploidy rate between globozoospermic men and controls. This result is consistent with previous studies (Perrin et al, ; Vozdova et al, ) showing an increased aneuploidy frequency like Perrin et al () who found a high rate of aneuploidy in 46% of the patients compared to controls. Controversial results were obtained, and some studies have found no relationship between globozoospermia and sperm chromosomal abnormalities (Viville et al, ).…”

Section: Discussionsupporting

confidence: 93%

Comparison of sperm morphology and nuclear sperm quality in SPATA16‐ and DPY19L2‐ mutated globozoospermic patients

et al. 2019

View full text Add to dashboard Cite

The aim of this study was to compare the sperm morphology and nuclear sperm quality (sperm aneuploidy and DNA fragmentation) in two groups of globozoospermic patients: DPY19L2‐mutated patients (n = 6) and SPATA16‐mutated patients (n = 2). Results for these two groups were also compared to a group of fertile men (n = 25). Fluorescence in situ hybridisation was performed for chromosomes X, Y and 18. Sperm DNA fragmentation was evaluated by TUNEL assay. Sanger sequencing was performed for mutations screening of DPY19L2 and SPATA16 genes. Sperm analysis revealed a classic phenotype of total globozoospermia in DPY19L2‐mutated group and a particular phenotype characterised by a predominance of double/multiple round‐headed (39.00 ± 4.2%) and multi‐tailed spermatozoa (26.00 ± 16.97%) in SPATA16‐mutated group. FISH analysis showed a significantly higher aneuploidy rate in globozoospermic patients compared to controls (p < 0.05), and a higher rate was observed in SPATA16‐mutated group compared to DPY19L2‐mutated group (p < 0.05). DNA fragmentation index was significantly higher in globozoospermic men compared to controls (p < 0.001), and there is no statistically significant difference between the two globozoospermic groups. We showed that SPATA16 defects could be associated with an abnormal meiosis leading to a particular morphological sperm defect of double/multiple round‐headed and multi‐flagella and a higher sperm aneuploidy rate than in case of DPY19L2‐defects in classic globozoospermia.

show abstract

Section: Discussionsupporting

confidence: 93%

Comparison of sperm morphology and nuclear sperm quality in SPATA16‐ and DPY19L2‐ mutated globozoospermic patients

et al. 2019

View full text Add to dashboard Cite

show abstract

“…In this regard, different groups have assessed chromatin condensation, chromosomal aneuploidy and DNA damage in globozoospermia (Brahem, Mehdi et al., ; Brahem, Elghezal et al.,; Carrell et al.,; De Braekeleer et al., ; Deemeh et al.,; Perrin et al., ; Vozdova et al., ; Yassine et al., ). In contrary to some studies (Brahem, Elghezal et al., ; De Braekeleer et al., ), other studies have showed high level of protamine deficiency, DNA damage and aneuploidy in these cases (Brahem, Mehdi et al., ; Carrell et al.,; Deemeh et al.,; Perrin et al., ; Vozdova et al., ; Yassine et al., ). This difference may account for low fertilisation and poor embryo development in cases in which AOA was applied following ICSI (Check et al., ; Rybouchkin et al., ).…”

Section: Discussionmentioning

confidence: 99%

“…Nevertheless, several studies have investigate that failure in pregnancy rate following assisted reproduction technique (ART) and suggest it may be related to sperm DNA fragmentation related to apoptosis, abnormal sperm chromatin remodelling and oxidative stress, (Osman, Alsomait, Seshadri, El‐Toukhy, & Khalaf, ; Tandara et al., ; Zhao, Zhang, Wang, & Li, ). In this regard, previous studies have demonstrated that percentage of fragmented DNA and also aneuploidies in spermatozoa of men affected by globozoospermia were significantly higher than normal spermatozoa in a few cases (Brahem, Mehdi, Elghezal, & Saad, ; Perrin et al., , ; Vicari et al., ; Vozdova et al., ). In addition, abnormal chromatin condensation, low levels of protamines (P1 and P2) and high level of nuclear histones were reported in these individuals as well (Carrell, Emery, & Liu,; Deemeh, Tavalee, Razavi, & Nasr‐ Esfahani,; Vozdova et al., ; Yassine et al., ).…”

Section: Introductionmentioning

confidence: 88%

“…In this regard, previous studies have demonstrated that percentage of fragmented DNA and also aneuploidies in spermatozoa of men affected by globozoospermia were significantly higher than normal spermatozoa in a few cases (Brahem, Mehdi, Elghezal, & Saad, ; Perrin et al., , ; Vicari et al., ; Vozdova et al., ). In addition, abnormal chromatin condensation, low levels of protamines (P1 and P2) and high level of nuclear histones were reported in these individuals as well (Carrell, Emery, & Liu,; Deemeh, Tavalee, Razavi, & Nasr‐ Esfahani,; Vozdova et al., ; Yassine et al., ). Other studies have not observed such anomalies (sperm chromatin condensation and/or aneuploidy) in sperm of globozoospermic men (Brahem, Elghezal et al., ; De Braekeleer, Nguyen, Morel, & Perrin, ).…”

Section: Introductionmentioning

confidence: 88%

See 1 more Smart Citation

Association between total globozoospermia and sperm chromatin defects

Eskandari

Tavalaee

Zohrabi³

et al. 2017

Andrologia

View full text Add to dashboard Cite

Globozoospermia is a severe sperm morphological anomaly leading to primary infertility and low fertilisation following intracytoplasmic sperm injection (ICSI). This phenotype is observed in less than 0.1% of infertile men and is determined by small, round-headed spermatozoa with absence of an acrosomal cap, acrosome protease and also cytoskeletal proteins. Failure of oocyte activation is considered as the main cause of fertilisation failure in these individuals post-ICSI. Therefore, artificial oocyte activation (AOA) along with ICSI is commonly implemented. However, based on previous report, fertilisation rate remains low despite implementation of ICSI-AOA. Therefore, other mechanisms like sperm chromatin packaging and DNA fragmentation may account for low fertilisation and development post-ICSI-AOA. Therefore, this study aims to assess and compare the degree of sperm protamine deficiency and DNA fragmentation in large population of infertile men with total globozoospermia (30 globozoospermic men presenting with 100% round-headed spermatozoa) with 22 fertile individuals using chromomycin A3 and TUNEL assay respectively. Results clearly show that mean of sperm concentration and percentage of sperm motility were significantly lower, while percentage of sperm abnormal morphology, protamine-deficient and DNA-fragmented spermatozoa were significantly higher in infertile men with globozoospermia compared to fertile men. Therefore, increased sperm DNA damage in globozoospermia is likely related to defective DNA compaction and antioxidant therapy before ICSI-AOA could be recommended as an appropriate option before ICSI-AOA.

show abstract

“…It is exposed that globozoospermia as well as other irregular morphologic shapes of human spermatozoa is coupled with DNA strand breaks and abnormal chromatin configures. Though several studies have exposed no momentous amplification in DNA denaturation or sperm DNA disintegration in globozoospermic cases compared productive men [11][12][13]. Sutovsky et al, in 2001 with the preface of SUTI (sperm-ubiquitin tag immunoassay) practice demonstrated that globozoospermic are extremely ubiquitinated that pointed their injured DNA [14].…”

Section: Casementioning

confidence: 99%

How important is the Morphology of the Semen Analysis?

Shkembi¹

2016

Ann Cytol Pathol

View full text Add to dashboard Cite

044made from the paraffin samples, immobilized on slides, dewaxed and subsequently stained, usually with hemotoxylin and eosin, and sealed with a cover slip (Figure 2). Staining procedure• Stain rehydrated sections in Hematoxylin solution for 20-40 minutes.• Wash in tap water for 1-5 minutes, until sections turn blue ("bluing").• Differentiate sections in 70% ethanol-containing 1% HClfor 5 seconds. This removes excess dye, allowing nuclear details to emerge. IntroductionThe eminent characters like the quantity of spermatozoa with a regular figure, generally calculated by a plain semen examination, can settle only some of the trigger issues. The connection between sperms deficiency and following pathologies can be further determined with processes to measure methodically the cytomorphological performing of a man's semen -• acute prostatitis containing coiled sperm;• tapered sperm cells characterized varicocele,• Instability of epididymal function typified by asthenozoospermia.The historical WHO methodologies for morphological assessment of men's semen, based on population studies that took the average morphology of groups of men who were able to get their partner pregnant within the last are basically: AbstractIntroduction: Male infertility is evaluated throughout the quantitative and qualitative analysis of male's semen and the sperm contained therein. One of the most essential part of this process is the evaluation of the cytomorphology of man's semen. We could reach a correct measurement of the morphology using stained smears that allow the differentiation of other cells like white blood cells and immature sperm cells that could indicate an infection or inflammation.

show abstract

Total globozoospermia associated with increased frequency of immature spermatozoa with chromatin defects and aneuploidy: a case report

Cited by 23 publications

References 40 publications

Comparison of sperm morphology and nuclear sperm quality in SPATA16‐ and DPY19L2‐ mutated globozoospermic patients

Comparison of sperm morphology and nuclear sperm quality in SPATA16‐ and DPY19L2‐ mutated globozoospermic patients

Association between total globozoospermia and sperm chromatin defects

How important is the Morphology of the Semen Analysis?

Contact Info

Product

Resources

About