Scrreening for microdeletions in human Y chromosome‐AZF candidate genes and male infertility

Raicu, Florina; Popa, Luis Ovidiu; Apostol, Pompilia; Cimponeriu, Danut; Dan, Letitia; Ilinca, Elena; Dracea, Laura Luana; Marinescu, Bogdan; Gavrilă, Lucian

doi:10.1111/j.1582-4934.2003.tb00201.x

Cited by 38 publications

(16 citation statements)

References 46 publications

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“…The lowest deletion frequency (1.8%) was reported in German and Danish idiopathic severely oligozoospermic men, 1,4 whereas the highest was reported in an ethnically admixed population from France (13.7%) 5 and in Romanians (10%). 6 Data on the prevalence of classical AZF deletions in men attending an infertility clinic in Spain derive from two independent surveys, with an overall frequency of 5.4% and 7%, respectively. 7,8 Because of its complex structure, rich in massive near-identical amplicons, the AZFc region is particularly susceptible to homologybased intrachromosomal recombination events and hence to structural variations as copy number variations (CNVs).…”

Section: Introductionmentioning

confidence: 99%

Clinical relevance of Y-linked CNV screening in male infertility: new insights based on the 8-year experience of a diagnostic genetic laboratory

et al. 2013

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AZF microdeletion screening is routinely performed in the diagnostic work-up for male infertility; however, some issues remain debated. In this study, we provide insights into the sperm concentration cutoff value for routine testing, the predictive value of AZFc deletion for testicular sperm retrieval and the Y-background contribution to the interpopulation variability of deletion frequencies. In the Spanish population, partial AZFc rearrangements have been poorly explored and no data exist on partial duplications. In our study, 27/806 (3.3%) patients carried complete AZF deletions. All were azoo/cryptozoospermic, except for one whose sperm concentration was 2 Â 10 6 /ml. In AZFc-deleted men, we observed a lower sperm recovery rate upon conventional TESE (9.1%) compared with the literature (60-80% with microTESE). Haplogroup E was the most represented among non-Spanish and hgr P among Spanish AZF deletion carriers. The analysis of AZFc partial rearrangements included 330 idiopathic infertile patients and 385 controls of Spanish origin. Gr/gr deletion, but not AZFc partial duplications, was significantly associated with spermatogenic impairment. Our data integrated with the literature suggest that: (1) routine AZF microdeletion testing could eventually include only men with r2 Â 10 6 /ml; (2) classical TESE is associated with low sperm recovery rate in azoospermic AZFc-deleted men, and therefore microTESE should be preferred; (3) Y background could partially explain the differences in deletion frequencies among populations. Finally, our data on gr/gr deletion further support the inclusion of this genetic test in the work-up of infertile men, whereas partial AZFc duplications do not represent a risk for spermatogenic failure in the Spanish population.

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Section: Introductionmentioning

confidence: 99%

Clinical relevance of Y-linked CNV screening in male infertility: new insights based on the 8-year experience of a diagnostic genetic laboratory

et al. 2013

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“…Approximately 38 % and 23% of men with infertility are diagnosed as azoospermia and severe oligozoospermia, respectively. Moreover, about 10% to 15% of idiopathic cases of azoospermia and severe oligozoospermia have microdeletions in AZF regions as the etiologic factor [12][13][14]. The frequency of Y chromosome microdeletions varies between 1% [15] and 55% [16] in the worldwide whereas the few studies performed in Asian male populations showed frequencies of 7.6% to 16.5% in Japan [17][18][19][20][21][22], 11.0% to 19.4% in China [23,24], 10.6% to 11.7% in Taiwan [25,26], 6.4% in Hong Kong [27] and 2.0% to 12.0% in India [12,28,29].…”

Section: Abstract Y Chromosome Microdeletion Chromosomal Abnormalitmentioning

confidence: 99%

Molecular and cytogenetic studies of 101 infertile men with microdeletions of Y chromosome in 1,306 infertile Korean men

Kim

Choi

Park

et al. 2012

J Assist Reprod Genet

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Objectives To determine the prevalence of Y chromosome microdeletions in infertile Korean men with abnormal sperm counts and to assess the clinical features and frequency of chromosomal abnormalities in Korean patients with microdeletions. Methods A total of 1,306 infertile men were screened for Y chromosome microdeletions, and 101 of them had microdeletions. These 101 men were then retrospectively studied for cytogenetic evaluation, testicular biopsy and outcomes of IVF and ICSI. ResultsThe overall prevalence of Y chromosome microdeletions in infertile men was 7.7 % (101/1,306). Most microdeletions were in the AZFc region (87.1%), including deletions of AZFbc (24.7 %) and AZFabc (8.9 %). All patients with AZFa, AZFbc and AZFabc deletions had azoospermia, whereas patients with an AZFc deletion usually had low levels of sperm in the ejaculate or in the testis tissues. Chromosomal studies were performed in 99 men with microdeletions, 36 (36.4%) of whom had chromosomal abnormalities. Among the infertile men with Y chromosome microdeletions in this study, the incidence of chromosomal abnormality was 48.6% in the azoospermic group and 3.7% in the oligozoospermic group. Among the 69 patients with microdeletions and available histological results, 100.0% of the azoospermic group and 85.7% of the oligozoospermic group had histological abnormalities. The frequency of both chromosomal abnormalities and histological abnormalities was higher in the azoospermic group compared to the oligozoospermic group. Thirtyfour ICSI cycles with either testicular (n014) or ejaculated spermatozoa (n020) were performed in 23 couples with men with AZFc microdeletion. Thirteen clinical pregnancies (39.4%) were obtained, leading to the birth of 13 babies. Conclusions The study results revealed a close relationship between microdeletions and spermatogenesis, although IVF outcome was not significantly affected by the presence of the AZFc microdeletion. Nevertheless, Y chromosome microdeletions have the potential risk of being transmitted from infertile fathers to their offspring by ICSI. Therefore, before using ICSI in infertile patients with severe spermatogenic defects, careful evaluations of chromosomal abnormalities and Y chromosome microdeletions screening should be performed and genetic counseling should be provided before IVF-ET.Capsule A close relationship exists between microdeletions and spermatogenesis, although IVF outcome was not significantly affected by the presence of an AZFc microdeletion.

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“…In the male, sex determination is governed by an area located on the short arm of the Y chromosome known as sex-determining region (SRY) which is located on the short arm of the Y chromosome (Yp11), but the set genes involved in spermatogenesis are found on the nearby region of Y chromosome long arm (Yq11). This location of Y chromosome is known as the azoospermia factor (AZF) region and it consists of three sub-regions namely AZFa, AZFb and AZFc (Raicu et al, 2003). Deletions in each particular region occur with different frequency and can result in defective spermatogenesis with clinical outcomes ranging from complete absence of sperm in azoospermia or decreased sperm population in severe oligozoospermia Micro-deletion in the AZFc sub-region is almost associated with oligospermia while those occurring in the AZFa and AZFb sub-regions have been correlated with azoospermia.…”

Section: Introductionmentioning

confidence: 99%

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

Hanoon

Raziq

Nerwey

2017

SJUOZ

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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.

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Scrreening for microdeletions in human Y chromosome‐AZF candidate genes and male infertility

Cited by 38 publications

References 46 publications

Clinical relevance of Y-linked CNV screening in male infertility: new insights based on the 8-year experience of a diagnostic genetic laboratory

Clinical relevance of Y-linked CNV screening in male infertility: new insights based on the 8-year experience of a diagnostic genetic laboratory

Molecular and cytogenetic studies of 101 infertile men with microdeletions of Y chromosome in 1,306 infertile Korean men

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

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