Cytogenetic and Molecular Aspects of Absolute Teratozoospermia: Comparison Between Polymorphic and Monomorphic Forms

Brahem, Sonia; Elghezal, Hatem; Ghédir, Houda; Landolsi, Hanène; Amara, Abdelbasset; Ibala, Samira; Gribaa, Moez; Saâd, Ali; Mehdi, Meriem

doi:10.1016/j.urology.2011.08.064

Cited by 29 publications

(23 citation statements)

References 26 publications

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“…Triple color FISH analysis showed a mean t o t a l s p e r m a n e u p l o i d y r a t e o f 9 8 . 3 3 % i n t h e macrozoospermia group, including a mean rate of 22.7, 25.3 and 18.3 % of sperm nuclei with diploidy, triploidy and tetraploidy, respectively [12]. Altogether, the meiotic segregation analysis shows that more than 90 % of the sperm heads have an aneuploid composition (Fig.…”

Section: Meiotic Segregation Studiesmentioning

confidence: 81%

“…The majority of the studies, although in a limited number, found that globozoospermic males had a sperm DNA fragmentation index statistically significantly higher than in fertile men. compared the rate of sperm DNA fragmentation between patients with polymorphic teratozoospermia, globozoospermia and healthy fertile men [12]. They found a statistically significant increase in the rate of sperm DNA fragmentation between the globozoospermia and the fertile groups (40.00 % ± 3.55 % versus 8.90 %± 1.3 %) (P<0.01).…”

Section: Meiotic Segregation Studies Several Workers Have Investigatementioning

confidence: 97%

“…Brahem et al (2011) compared the sperm aneuploid rate between patients with polymorphic teratozoospermia, globozoospermia, macrozoospermia and healthy fertile men [12]. They found a statistically significant increase in the rate of aneuploidy between all three teratozoospermic groups compared to the fertile group (P<0.001).…”

Section: Meiotic Segregation Studies Several Workers Have Investigatementioning

confidence: 99%

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Genetic aspects of monomorphic teratozoospermia: a review

Braekeleer

Nguyen

Morel

et al. 2015

J Assist Reprod Genet

113

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Teratozoospermia is characterized by the presence of spermatozoa with abnormal morphology over 85 % in sperm. When all the spermatozoa display a unique abnormality, teratozoospermia is said to be monomorphic. Two forms of monomorphic teratozoospermia, representing less than 1 % of male infertility, are recognized: macrozoospermia (also called macrocephalic sperm head syndrome) and globozoospermia (also called round-headed sperm syndrome). Macrozoospermia is defined as the presence of a very high percentage of spermatozoa with enlarged head and multiple flagella. Meiotic segregation studies in 30 males revealed that over 90 % of spermatozoa were aneuploid, mainly diploid. Sperm DNA fragmentation studies performed in a few patients showed an increase in DNA fragmentation index compared to fertile men. Four mutations in the AURKC gene, a key player in meiosis and more particularly in spermatogenesis, have been found to be responsible for macrozoospermia. Globozoospermia is characterized by round-headed spermatozoa with an absent acrosome, an aberrant nuclear membrane and midpiece defects. The rate of aneuploidy of various chromosomes in spermatozoa from 26 globozoospermic men was slightly increased compared to fertile men. However, this increase was of the same order as that commonly found in infertile men with altered sperm parameters. The majority of the studies found that globozoospermic males had a sperm DNA fragmentation index higher than in fertile men. Mutations or deletions in three genes, SPATA16, PICK1 and DPY19L2, have been shown to be responsible for globozoospermia. Identification of the genetic causes of macrozoospermia and globozoospermia should help refine diagnosis and treatment of these patients, avoiding long and painful treatments. Elucidating the molecular causes of these defects is of utmost importance as intracytoplasmic sperm injection (ICSI) is very disappointing in these two pathologies.

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Section: Meiotic Segregation Studiesmentioning

confidence: 81%

Section: Meiotic Segregation Studies Several Workers Have Investigatementioning

confidence: 97%

Section: Meiotic Segregation Studies Several Workers Have Investigatementioning

confidence: 99%

See 1 more Smart Citation

Genetic aspects of monomorphic teratozoospermia: a review

Braekeleer

Nguyen

Morel

et al. 2015

J Assist Reprod Genet

113

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show abstract

“…Association between morphological sperm deformities and sperm chromosomal abnormalities has been investigated extensively but the results were controversial. Most of the studies showed that teratozoospermia, like other forms of abnormal semen profiles (asthenozoospermia, oligozoospermia), is a marker of elevated sperm aneuploidy [21][22][23][24][25][26][27][28]. Indeed, sperm of isolated teratozoospermic men have shown higher rates of chromosomal abnormalities than that of fertile controls [24,26,28].…”

Section: Discussionmentioning

confidence: 99%

Meiotic segregation and sperm DNA fragmentation in Tunisian men with dysplasia of the fibrous sheath (DFS) associated with head abnormalities

Ghédir

Mehri

Mogharrabi

et al. 2014

J Assist Reprod Genet

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Purpose Dysplasia of the Fibrous Sheath (DFS) is a primitive flagellar pathology for which a broad spectrum of ultrastructural flagellar abnormalities has been described responsible for a severe to total asthenozoospermia. To this phenotype other morphological abnormalities including cephalic and abnormalities in nuclear structure can be associated that could compromise embryonic development in case of use of Assisted Reproductive Technology (ART). The aim of this study was to evaluate the level of DNA fragmentation and aneuploidy rate in ejaculated spermatozoa of Tunisian men presented with DFS sperm defect associated to high percentage of head abnormalities and to compare the results with those from fertile men. Methods Sperm DNA fragmentation was evaluated by the terminal desoxynucleotidyl transferase mediated deoxyuridine triphosphate biotin nick-end labelling (TUNEL) assay. The study of meiotic segregation was performed by Fluorescence in situ hybridization (FISH) for chromosomes X, Y and 18. Results The mean DNA fragmentation index was significantly higher in patients compared to the control group. FISH revealed a significantly higher incidence of sperm aneuploidies compared with controls. All patients showed elevated frequencies of sex chromosomes disomy, disomy 18 and diploidy. Conclusions In some cases of syndromic teratozoospermia due to sperm tail structural abnormalities, such as DFS, other morphological cephalic abnormalities may be associated. In these cases we have demonstrated impaired sperm nuclear quality which will affect the results in ICSI. Hence the interest of a thorough study of the sperm nucleus in these forms of infertility in order to predict the chances of success in ART.

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“…Influence of chromosomal disorders on sperm motility and morphology has not been clearly clarified in most of the previous studies (Matsuda et al, 1991;Yoshida et al, 1997). In 2011 a study by Brahem et al (2011) reported that, for all teratozoospermic patients a normal karyotype and an absence of Y chromosome microdeletion was overt (Brahem et al, 2011).…”

Section: %) Sperm Count ---------------------------------------------mentioning

confidence: 96%

Male Infertility and Cytogenetic Disorders: A Cross-Sectional Study

Belmokhtar¹,

Belmokhtar²,

Kerfouf³

2015

J. of Medical Sciences

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Infertility is a very common health problem. In this study, the relationship between cytogenetic disorders, semen parameters and reproductive hormone levels of infertile men from Western region of Algeria, Tlemcen, was evaluated. A total of 27 infertile males were studied for the cytogenetic evaluation. Also, 12 fertile males as a control group were studied. Karyotyping was performed on peripheral blood lymphocytes according to the standard methods. Semen analysis and endocrine evaluation were carried out. The prevalence of abnormal chromosomal karyotype in the patients with abnormal sperm parameters was 11.11%. The most frequent cause was Klinefelter's syndrome (03/27). The levels of testosterone (T) in patient group were significantly lower than those of fertile group (p<0.0001). In addition, the levels of FollicleStimulating Hormone (FSH) (p<0.0001), and Luteinizing Hormone (LH) (p<0.0001) were significantly higher in patients than those in the fertile group. The same results of hormone levels were found when compared the patients with normal and abnormal karyotype. Cytogenetic disorders have severe adverse of sperm concentration and reproductive hormone levels. These findings suggest the need for routine genetic testing and counseling prior to the employment of assisted reproduction techniques.

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Cytogenetic and Molecular Aspects of Absolute Teratozoospermia: Comparison Between Polymorphic and Monomorphic Forms

Cited by 29 publications

References 26 publications

Genetic aspects of monomorphic teratozoospermia: a review

Genetic aspects of monomorphic teratozoospermia: a review

Meiotic segregation and sperm DNA fragmentation in Tunisian men with dysplasia of the fibrous sheath (DFS) associated with head abnormalities

Male Infertility and Cytogenetic Disorders: A Cross-Sectional Study

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