Chromosomal abnormalities and Y chromosome microdeletions in infertile men from Morocco

Naasse, Yassine; Charoute, Hicham; Houate, Brahim El; Chadli, Elbekkay; Razoki, Lunda; Malki, Abderrahim; Barakat, Abdelhamid; Rafiey, Hassan

doi:10.1186/s12894-015-0089-3

Cited by 26 publications

(26 citation statements)

References 45 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Chromosomal abnormality is the most common genetic cause of infertility (Zhang et al, 2015b). Male carriers of chromosomal abnormalities have often been found to be azoospermic or oligozoospermic (Naasse et al, 2015;Zhang et al, 2015b). Although balanced chromosomal forms exert no phenotypic effect on the carriers, they show variable influence on sperm counts, which can range from normal counts to oligozoospermia or even result in a total absence of sperm in the ejaculate (Zhang et al, 2015c).…”

Section: Introductionmentioning

confidence: 99%

Reproductive outcome of male carriers of chromosomal abnormalities: multidisciplinary approach for genetic counseling and its implications

Guo

Wang

et al. 2016

Genet. Mol. Res.

View full text Add to dashboard Cite

Chromosomal abnormality is the most common genetic cause of infertility. Infertility, as a psychological problem, has received an increasing amount of attention. Psychological interventions have been shown to have beneficial effects on infertile patients with chromosomal abnormalities. The present study explored reproductive outcome of male carriers of chromosomal abnormalities, who accepted genetic counseling and psychological support. Cytogenetic analysis was performed using cultured peripheral blood lymphocytes and G-banding. The detection rate of chromosomal abnormalities was 10.3% in pre-pregnancy counseled males, with polymorphisms being most common, followed by 47,XXY and balanced translocation. Follow-up of 170 carriers with normozoospermia, after 3 years, showed that 94.7% of the cases resulted in live births. In the carriers of polymorphisms, balanced translocation, inv(9), Robertsonian translocation, inversion, and 47,XYY, live birth rates were 96.8, 85.7, 100, 83.3, 75, and 100%, respectively. Follow-up of 54 carriers with oligozoospermia or azoospermia, after 3 years, showed that 14.8% of the cases resulted in live births. In the carriers of 47,XXY with severe oligozoospermia or azoospermia, 80 or 5.9% of the cases resulted in live births, respectively. Therefore, timely psychological support would be beneficial and multidisciplinary approach should be preferentially considered for the management of individuals with chromosomal abnormalities.

show abstract

Section: Introductionmentioning

confidence: 99%

Reproductive outcome of male carriers of chromosomal abnormalities: multidisciplinary approach for genetic counseling and its implications

Guo

Wang

et al. 2016

Genet. Mol. Res.

View full text Add to dashboard Cite

show abstract

“…The majority of studies assert that AZFc micro-deletions are the most frequent, followed by micro-deletions in the AZFb and AZFa sub-regions . The frequency of the occurrence of micro-deletions can be very fluctuating due to the differences in many factors like Y chromosome background, the ethnicity of the selected patients, clinical criteria for patient selection, and methodological approachs (Naasse et al, 2015). The aim of the present study is to identify the types of microdeletions within the AZF region in azoospermic and oligospermic patients in Duhok province.…”

Section: Introductionmentioning

confidence: 99%

AZF micro-deletion in azoospermia and severe oligospermia: Molecular & histopathological study in Duhok Province

Hanoon

Raziq

Nerwey

2017

SJUOZ

View full text Add to dashboard Cite

ABSTRACT:Y chromosome micro-deletion (YCM) is a set of genetic diseases caused by missing gene (s) in specific regions of the Y chromosome. Many individuals with YCM show no manifestations and lead normal life. On the other hand, YCM is known to exist in a significant number of infertile males. Forty adult patients suffering from severe oligospermia and azoospermia were involved in the present study. Seminal fluid analyses were performed, and a blood sample was obtained for hormonal analysis and DNA extraction. Follicle stimulating hormone (FSH) and luteinizing hormone (LH) profiles were measured and those who are azoospermic with normal FSH levels were subjected to testicular biopsy. The results revealed that 23 patients were azoospermic while 17 patients were severe oligospermic. It is also shown that ten azoospermic patients had normal serum gonadotrophin levels thus they were directed for testicular biopsy. Histopathological examination of testicular biopsy showed that four patients had obstructive azoospermia while the remaining six suffered from maturation arrest. DNA was extracted according to the standard proteinase K/phenol-chloroform method in the medical biotechnology laboratory/Scientific Research Center/University of Duhok. Multiplex PCR was performed for genes located in the azoospermia factor (AZF) regions (AZFa, AZFb, and AZFc) to detect any possible micro-deletions. Y chromosome micro-deletions were determined in 26 patients out of a total of forty patients. Microdeletions in the AZFc sub-region appeared in 16 out of 26 patients (61.5 %), and 10 (38.5 %) samples showed AZFb, however, AZFa micro-deletion was not detected in any of the patients. In conclusion, it has been found that Y chromosome micro-deletions in the AZF region can be a determining factor for male infertility and the consequential manifestations.

show abstract

“…Results from the studies above collectively demonstrated that the prevalence rate of AZF microdeletions in infertile men with azoospermia ranged from 3% to 55% (Ambulkar et al., ). We found that the total prevalence rate of AZF microdeletions in NOA patients who underwent testicular biopsy was 15.6%, which is higher than in other regions of China and other countries (3.9%–13.1%) (Akin et al., ; Ambulkar et al., ; Ferlin et al., ; Li et al., ) and lower than in some other countries (18.8%–20%) (Naasse et al., ; Sheikhha et al., ). The probable reason why the results were different was that our cohort was from NOA patients who underwent testicular biopsy.…”

Section: Discussionmentioning

confidence: 76%

Correlation of genetic results with testicular histology, hormones and sperm retrieval in nonobstructive azoospermia patients with testis biopsy

Liu

Gao

et al. 2016

Andrologia

View full text Add to dashboard Cite

To investigate the frequency and types of genetic results in different testicular histology of patients with nonobstructive azoospermia (NOA), and correlated with hormones and sperm retrieval (SR), a retrospective study was conducted in 286 Chinese NOA patients who underwent testis biopsy and 100 age-matched fertile men as the control group. Chromosome karyotype analyses were performed by the peripheral blood chromosome G-band detection method. Screening of Y chromosome microdeletions of azoospermia factor (AZF) region was performed by polymerase chain reaction (PCR) amplification of 11 sequence-tagged sites (STS). The serum levels of follicle-stimulating hormone, luteinising hormone and testosterone (T) and the appearance of scrotal ultrasound were also obtained. In 286 cases of NOA, 14.3% were found to have chromosomal alterations. The incidence of chromosomal abnormality was 2.8%. Sex chromosomal abnormalities were seen in six cases (four cases of Klinefelter's syndrome (47, XXY) and two cases of mosaics). The incidence of polymorphic chromosomal variants was 3% in the normal group and 11.5% in the NOA group. In total, 15.7% of NOA patients were found to have AZF microdeletions and AZF (c + d) was the most frequent one. The results of hormone and SR were found to be significantly different among all testicular histological types, whereas no significant differences were found when it comes to genetic alterations. It is concluded that the rate of cytogenetic alterations was high in NOA patients. So screening for chromosomal alterations and AZF microdeletions would add useful information for genetic counselling in NOA patients with testis biopsy and avoid vertical transmission of genetic defects by assisted reproductive technology.

show abstract

Chromosomal abnormalities and Y chromosome microdeletions in infertile men from Morocco

Cited by 26 publications

References 45 publications

Reproductive outcome of male carriers of chromosomal abnormalities: multidisciplinary approach for genetic counseling and its implications

Reproductive outcome of male carriers of chromosomal abnormalities: multidisciplinary approach for genetic counseling and its implications

AZF micro-deletion in azoospermia and severe oligospermia: Molecular & histopathological study in Duhok Province

Correlation of genetic results with testicular histology, hormones and sperm retrieval in nonobstructive azoospermia patients with testis biopsy

Contact Info

Product

Resources

About