Azoospermia

Varicocele and male infertility in Northeast China: Y chromosome microdeletion as an underlying cause

R. L. Dai, Hou, Y., Li, F. B., Yue, J. M., Xi, Q., and Liu, R. Z., Varicocele and male infertility in Northeast China: Y chromosome microdeletion as an underlying cause, vol. 14, pp. 6583-6590, 2015.

The prevalence of Y chromosome microdeletions among azoospermic, severe oligozoospermic, moderate oligozoospermic, and mild oligozoospermic patients with varicocele-related and idiopathic infertility shows conflicting data in Asian countries. We aimed to detect this frequency in Northeast China, and investigated spermatogenic defects whether associated with varicocele or Y chromosome microdeletions. All samples underwent a thorough physical examination, semen analysis, and PCR analyses for Y chromosome microdeletions.

Correlation of Y-chromosome multiple segmental deletions and chromosomal anomalies in non-obstructive azoospermic males from northeastern China

R. - L. Dai, Wang, R. - X., Jin, J. - L., Niu, G. - N., Lee, J. - Y., Li, S. - B., and Liu, R. - Z., Correlation of Y-chromosome multiple segmental deletions and chromosomal anomalies in non-obstructive azoospermic males from northeastern China, vol. 11, pp. 2422-2431, 2012.

We investigated the frequency and types of Y-chromosome microdeletions and chromosomal anomalies in non-obstructive azoospermic and severely oligozoospermic infertile males in northeastern China. The sample consisted of 519 infertile males (456 azoospermic, 63 severely oligozoospermic). PCR assays for Y-chromosome microdeletions and chromosome analysis were performed on all patients and controls. Array-comparative genomic hybridization was performed for three patients with chromosomal anomalies. Fifty-nine of 519 patients (11.37%) had Y-chromosome microdeletions.

Cytogenetic and molecular analysis of infertile Chinese men: karyotypic abnormalities, Y-chromosome microdeletions, and CAG and GGN repeat polymorphisms in the androgen receptor gene

T. T. Han, Ran, J., Ding, X. P., Li, L. J., Zhang, L. Y., Zhang, Y. P., Nie, S. S., and Chen, L., Cytogenetic and molecular analysis of infertile Chinese men: karyotypic abnormalities, Y-chromosome microdeletions, and CAG and GGN repeat polymorphisms in the androgen receptor gene, vol. 12, pp. 2215-2226, 2013.

Chromosome abnormalities, Y-chromosome microde­letions, and androgen receptor gene CAG and GGN repeat polymor­phisms in infertile Chinese men featuring severe oligospermia and azoospermia were analyzed. Ninety-six fertile men and 189 non-ob­structive infertile men, including 125 patients with azoospermia and 64 with severe oligozoospermia, were studied. Seventeen infertile men (9.0%) carried a chromosome abnormality. Twenty (10.6%) carried a Y-chromosome microdeletion. In the remainder of the patients and con­trols, GGN and CAG repeats were sequenced.

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

H. - G. Zhang, Zhang, Z. - B., Wang, R. - X., Yu, Y., Yu, X. - W., Fadlalla, E., and Liu, R. - Z., Male infertility in Northeast China: molecular detection of Y chromosome microdeletions in azoospermic patients with Klinefelter's syndrome, vol. 12, pp. 4972-4980, 2013.

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.

Genetic anomalies in patients with severe oligozoospermia and azoospermia in eastern Turkey: a prospective study

G. G. Ceylan, Ceylan, C., and Elyas, H., Genetic anomalies in patients with severe oligozoospermia and azoospermia in eastern Turkey: a prospective study, vol. 8, pp. 915-922, 2009.

Infertility is defined as the inability to conceive a child after one year of regular unprotected intercourse; it is a major health problem affecting about 10-15% of all couples. Infertility is due to a male factor in approximately 50% of cases. The human Y chromosome contains genes necessary for gonadal differentiation into a testis and genes for complete spermatogenesis. We examined the frequency and type of both chromosomal abnormalities and Y chromosome microdeletions in 90 patients with severe male factor infertility and 75 fertile control men.

Molecular cytogenetic analysis of a ring-Y infertile male patient

F. M. Carvalho, Wolfgramm, E. V., Degasperi, I., Verbeno, B. M., Vianna, B. A., Chagas, F. F., Paula, F., Louro, I. D., and Perroni, A. M. S., Molecular cytogenetic analysis of a ring-Y infertile male patient, vol. 6. pp. 59-66, 2007.

In the present study, we report on the case of a 43-year-old male patient seeking for fertility assistance, who showed a seminal analysis and testicular biopsy of complete azoospermia. Peripheral blood culture for chromosome studies revealed a karyotype of 46 chromosomes with a ring-Y-chromosome that lost the long arm heterochromatin. Molecular analysis of genomic DNA from the patient detected the presence of the sex-determining region of the Y-chromosome (SRY) but the complete absence of regions involved in spermatogenesis (AZFa, AZFb, AZFc).

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