Male infertility in Northeast China: a cytogenetic study of 135 patients with non-obstructive azoospermia and severe oligozoospermia

Zhang, Zhibo; Jiang, Yuting; Xing, Yun; Yang, Xiao; Dai, Rulin

doi:10.1007/s10815-011-9670-1

Cited by 18 publications

(17 citation statements)

References 19 publications

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“…Oates et al [27] have reported that the mean FSH in the severely oligospermic men was significantly less than the mean of the azoospermic men, and the mean LH and T values did not differ significantly between the groups. Zhang et al [28] observed significant differences in the level of FSH between the two groups studied (nonobstructive azoospermic and severe oligozoospermic). Studies by Wang et al [26] and by Balkan et al [1] also show higher FSH and LH levels in men with severe spermatogenic failure, and this suggests that some of these men may have mild forms of the testicular dysgenesis syndrome.…”

Section: Discussionmentioning

confidence: 99%

First Study of Microdeletions in the Y Chromosome of Algerian Infertile Men with Idiopathic Oligo- or Azoospermia

et al. 2013

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The human Y chromosome is essential for human sex determination and spermatogenesis. The long arm contains the azoospermia factor (AZF) region. Microdeletions in this region are responsible for male infertility. The objective of this study was to determine the frequency of Y microdeletions in Algerian infertile males with azoospermia and oligoasthenoteratozoospermia syndrome (OATS) and to compare the prevalence of these abnormalities with other countries and regions worldwide. A sample of 80 Algerian infertile males with a low sperm count (1-20 × 10⁶ sperms/ml) as well as 20 fertile male controls was screened for Y chromosome microdeletions. 49 men were azoospermic and 31 men had OATS. Genomic DNA was isolated from blood and polymerase chain reaction was carried out with a set of 6 AZFa, AZFb and AZFc STS markers to detect the microdeletions as recommended by the European Academy of Andrology. Among the 80 infertile men screened for microdeletion, 1 subject was found to have microdeletions in the AZFc (sY254 and sY255) region. The deletion was found in azoospermic subjects (1/49, 2%). The overall AZF deletion frequency was low (1/80, 1.3%). AZF microdeletions were observed neither in the OATS group nor in the control group. The frequency of AZF microdeletions in infertile men from Algeria was comparable to those reported in the literature. We suggest analyzing 6 STS in the first step to detect Y microdeletions in our population.

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Section: Discussionmentioning

confidence: 99%

First Study of Microdeletions in the Y Chromosome of Algerian Infertile Men with Idiopathic Oligo- or Azoospermia

et al. 2013

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“…At least 20 metaphases were analyzed per patient. Chromosomal abnormalities were described according to the International System for Human Cytogenetic Nomenclature (Mitelman et al, 1995;Zhang et al, 2012).…”

Section: Chromosome Analysismentioning

confidence: 99%

“…Klinefelter's syndrome (KFS) is the most frequent chromosomal anomaly observed among infertile men (Mitra et al, 2006;Choe et al, 2007;Wang et al, 2010;Behulova et al, 2011;Zhang et al, 2012). Although most men with KFS have the 47,XXY karyotype, some show the mosaic karyotype (KFM) in their somatic and germ cells (Mitra et al, 2006;Choe et al, 2007).…”

Section: Introductionmentioning

confidence: 99%

Male infertility in Northeast China: molecular detection of Y chromosome microdeletions in azoospermic patients with Klinefelter's syndrome

Zhang¹,

Zhang²,

Wang³

et al. 2013

Genet. Mol. Res.

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ABSTRACT. The prevalence of microdeletions of azoospermia factor (AZF) among azoospermic Klinefelter's syndrome (KFS) patients shows conflicting data. We aimed to detect this frequency in a Northeast Chinese population, and to investigate the possible association between AZF microdeletions and KFS by comparison with previous conflicting reports. Eighty men affected with KFS and a random healthy control group comprising 60 fertile men and women were recruited. AZF microdeletions were detected by multiplex polymerase chain reaction using 9 specific sequence-tagged sites. Karyotype analyses were performed on peripheral blood lymphocytes using standard G-banding. Finally, azoospermia was confirmed in 77 men affected with KFS and no AZF microdeletions were found. Karyotype analysis revealed 1 patient with karyotype 47,XXY,inv (9) (p11, q13), and 2 with mosaic karyotypes (46,XX/47,XXY and 46,XY/47,XXY). All other patients had karyotype 47,XXY. Review of the literature showed that these results 4973©FUNPEC-RP www.funpecrp.com.br Genetics and Molecular Research 12 (4): 4972-4980 (2013) AZF microdeletions in azoospermic KFS patients were similar to those of other regions of Northeast Asia, but differed from those obtained from Caucasian populations. Our results supported the proposal that AZF microdeletions and KFS result from separate genetic defects. The prevalence of AZF in azoospermic KFS patients varies among populations, and it might result from genetic drift or selective pressure. These results suggest that routine screening for classical AZF microdeletions among infertile azoospermic men with a 47,XXY karyotype might not be necessary in Northeast Chinese individuals. However, it remains imperative for patients considering assisted reproductive treatments, particularly for those with mosaic karyotypes.

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“…Among these infertile couples, approximately 50% could be attributed to male factors (Elfateh et al., ). Male infertility could be caused by a variety of factors, such as endocrine disorders, spermatic duct obstruction, antisperm antibodies, cryptorchidism, testicular trauma and so on (Zhang et al., ). Nonobstructive azoospermia (NOA), an infrequent cause of male infertility, remains unexplained and is often considered to be idiopathic male infertility (Suganya et al., ).…”

Section: Introductionmentioning

confidence: 99%

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

Liu

Gao

et al. 2016

Andrologia

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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.

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Male infertility in Northeast China: a cytogenetic study of 135 patients with non-obstructive azoospermia and severe oligozoospermia

Abstract: For infertile men in Northeast China, chromosome analysis is a necessary part of routine genetic testing, and the contributing effects of high smoking and alcohol consumption rates of this population should be discussed during genetic counseling.

Cited by 18 publications

References 19 publications

First Study of Microdeletions in the Y Chromosome of Algerian Infertile Men with Idiopathic Oligo- or Azoospermia

First Study of Microdeletions in the Y Chromosome of Algerian Infertile Men with Idiopathic Oligo- or Azoospermia

Male infertility in Northeast China: molecular detection of Y chromosome microdeletions in azoospermic patients with Klinefelter's syndrome

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

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