Molecular Characterization of Some Genetic Factors Controlling Spermatogenesis in Egyptian Patients with Male Infertility

Fayez, Alaaeldin; El-Sayed, Amr Saad; El-Desouky, Mohamed A.; Zarouk, Waheba A.; Kamel, Alaa K.; Fahmi, Ibrahim Mohamed; El-Ruby, Mona

doi:10.5005/jp-journals-10016-1045

Cited by 4 publications

(10 citation statements)

References 24 publications

(22 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…In our patients, we found that the Klinefelter syndrome 47; XXY was the most common in azoospermic men (9.25 %) than in oligospermic severe men (1.55 %). In consistence with other studies [ 21 , 22 ], the mosaic forms of Klinefelter syndrome was found only in two azoospermic patients. Most men with KS are azoospermic and their ability to conceive remained too low [ 23 ].…”

Section: Discussionsupporting

confidence: 89%

“…Men with this syndrome can have phenotype similar to those with Klinefelter’s syndrome with normal male external genitalia, but they are sterile [ 29 ]. Studies have shown that the frequency of XX males among azoospermic varies between 0.6 % [ 30 ] and 3.7 % [ 21 , 22 ]. In our study, the frequency of this chromosomal abnormality was 1.36 %.…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Chromosomal abnormalities and Y chromosome microdeletions in infertile men from Morocco

et al. 2015

View full text Add to dashboard Cite

Background: Male infertility is responsible for 50 % of infertile couples. Thirty percent of male infertility is due to cytogenetic and genetic abnormalities. In Arab and North African populations, several studies have shown the association of these chromosomal abnormalities with male infertility. Our objective is to evaluate the frequency of chromosomal abnormalities and Y chromosome microdeletions in infertile men from Morocco. Methods: A total of 573 Moroccan infertile men (444 azoospermic and 129 oligozoospermic men) referred for cytogenetic analysis to the Department of Cytogenetics of the Pasteur Institute of Morocco, were screened for the presence of chromosomal abnormalities and Y chromosome microdeletions. Results: Chromosomal abnormalities accounted for approximately 10.5 % (60/573). Fifty six cases among them have sex chromosome abnormalities (93.34 %), including Klinefelter's syndrome in 41 patients (68.34 %). Autosomal chromosome abnormalities (6.66 %) were observed in 4 patients. Chromosomal abnormalities were more prevalent in azoospermic men (13.06 %) than in oligospermic men (1.55 %). Y microdeletions were detected in 16 of 85 patients (AZFc: 14.12 %, AZFbc: 4.70 %), most of them where azoospermic men with no chromosomal abnormality. Conclusions: These results highlighted the need for efficient molecular genetic testing in male infertility diagnosis. In addition, a genetic screening should be performed in infertile men before starting assisted reproductive treatments.

show abstract

Section: Discussionsupporting

confidence: 89%

Section: Discussionmentioning

confidence: 99%

Chromosomal abnormalities and Y chromosome microdeletions in infertile men from Morocco

et al. 2015

View full text Add to dashboard Cite

show abstract

“…In this study, the AZFc deletion frequency was represents 68.8% (31 /45) followed by the AZFbc region 15.5% (7/ 45), AZFb 8.8% (4/ 45) and AZFa 6.6% (3/ 45) illustrated in (Table 4,). These results which were similar to other studies [8,9,30,55] . On the other hand, Mohamed et al [20] found that the AZFbc combination regions was the most frequently deleted regions (5, 71.4%) followed by AZFc (2, 26.8%) with no separate microdeletions in either AZFb and/or AZFa in their Kuwaiti infertile males from Kuwait.…”

Section: Discussionsupporting

confidence: 93%

“…It represents 66% (2640/) of AZF deletions in NOA and 100% (55/) in SOZ. This result is comparable to the previously reported range (46.687.1%-) for AZFc deletion in several studies from different populations [9,24,25,51,53,55,57,65] . In contrast to these studiesHowever, Mafra et al [28] reported no AZFc deletions in their Brazilian NOA men.…”

Section: Discussionsupporting

confidence: 92%

See 1 more Smart Citation

The Frequency of Chromosomal Abnormalities and Y Chromosome Microdeletions in Infertile Non-Obstructive Azoospermic and Severe Oligozoospermic Males

et al. 2017

View full text Add to dashboard Cite

Purpose: To estimate the frequency and types of both chromosomal abnormalities and Azoospermia Factor (AZF) microdeletions among patients with non-obstructive azoospermia (NOA) and severe oligozoospermia (SOZ) with sperm count less than 5 million/ml. Methods: Karyotyping was performed for all 1127 patients, whereas AZF microdeletions assay was done for 811 patients including 653 NOA and 158 SOZ by multiplex polymerase chain reaction (PCR). All patients were subjected to clinical examination, scrotal duplex ultrasound and hormonal evaluations. Results: The frequency of chromosomal abnormalities was 14.4%, higher in NOA than SOZ men (22.6% versus 3.7%). Numerical chromosomal abnormalities were higher than structural type (11.8% versus 2.4%). Klinefelter syndrome (KS) represented 11.2% of the total chromosomal and 94.1% of sex chromosomal abnormalities. AZF microdeletions were higher in NOA than SOZ (6.1% versus 3.16%). AZFc microdeletions represented the most frequent finding: 31/45 (68.9%), followed by AZFbc: 7/45(15.6%), AZFb: 4/45 (8.8%) and AZFa: 3/45 (6.7%). All patients with AZFa (3), AZFb (4) and AZFbc (7) deletions were NOA, while 26/31(83.87%) with isolated AZFc deletion were NOA and 5/31(16.13%) were SOZ. Conclusion: In according to the results shown, we emphasize the importance of karyotyping and AZF microdeletions analysis in such groups. Counseling for such patients before ARTs is warranted to decrease the risk of transmitting genetic abnormalities to off spring.

show abstract

Detection of AZF microdeletions and reproductive hormonal profile analysis of infertile sudanese men pursuing assisted reproductive approaches

et al. 2021

View full text Add to dashboard Cite

Background Male factor is the major contributor in roughly half of infertility cases. Genetic factors account for 10–15% of male infertility. Microdeletions of azoospermia factors (AZF) on the Yq region are the second most frequent spermatogenesis disorder among infertile men after Klinefelter syndrome. We detected in our previous study a frequency of 37.5% AZF microdeletions which investigated mainly the AZFb and AZFc. We attempted in this study for the first time to evaluate the frequencies of all AZF sub-regions microdeletions and to analyze reproductive hormonal profiles in idiopathic cases of azoospermic and oligozoospermic men from Sudan. Methods A group of 51 medically fit infertile men were subjected to semen analysis. Four couples have participated in this study as a control group. Semen analysis was performed according to WHO criteria by professionals at Elsir Abu-Elhassan Fertility Centre where samples have been collected. We detected 12 STSs markers of Y chromosome AZF microdeletions using a multiplex polymerase chain reaction. Analysis of reproductive hormone levels including Follicle Stimulating, Luteinizing, and Prolactin hormones was performed using ELISA. Comparisons between outcome groups were performed using Student’s t-test Chi-square test or Fisher’s exact test. Results AZF microdeletion was identified in 16 out of 25 Azoospermic and 14 out of 26 of the Oligozoospermic. Microdeletion in the AZFa region was the most frequent among the 30 patients (N = 11) followed by AZFc, AZFd (N = 4 for each) and AZFb (N = 3). Among the Oligozoospermic participants, the most frequent deletions detected were in the AZFa region (N = 10 out of 14) and was significantly associated with Oligozoospermic phenotype, Fisher's Exact Test (2-sided) p = 0.009. Among the Azoospermic patients, the deletion of the AZFc region was the most frequent (N = 9 out of 16) and was significantly associated with Azoospermia phenotype Fisher's Exact Test p = 0.026. There was a significant difference in Y chromosome microdeletion frequency between the two groups. The hormonal analysis showed that the mean levels of PRL, LH, and FSH in Azoospermic patients were slightly higher than those in oligozoospermic. A weak negative correlation between prolactin higher level and Azoospermic patients was detected. (AZFa r = 0.665 and 0.602, p = 0.000 and 0.0004, AZFb r = 0.636 and 0.409, p = 0.000 and 0.025, and AZFd r = 0.398 and 0.442, p = 0.029 and 0.015). The correlation was positive for AZFa and negative for AZFb and AZFd. Conclusions We concluded in this study that the incidences of microdeletions of the Y chromosome confined to AZF a, b, c and d regions is 58.8% in infertile subjects with 31.4% were Azoospermic and 27.5% were Oligozoospermic. This might provide a piece of evidence that these specified regions of the Y chromosome are essential for controlling spermatogenesis. These findings will be useful for genetic counseling within infertility clinics in Sudan and to adopt appropriate methods for assisted reproduction.

show abstract

Molecular Characterization of Some Genetic Factors Controlling Spermatogenesis in Egyptian Patients with Male Infertility

Cited by 4 publications

References 24 publications

Chromosomal abnormalities and Y chromosome microdeletions in infertile men from Morocco

Chromosomal abnormalities and Y chromosome microdeletions in infertile men from Morocco

The Frequency of Chromosomal Abnormalities and Y Chromosome Microdeletions in Infertile Non-Obstructive Azoospermic and Severe Oligozoospermic Males

Detection of AZF microdeletions and reproductive hormonal profile analysis of infertile sudanese men pursuing assisted reproductive approaches

Contact Info

Product

Resources

About