Copy Number Variants in Patients with Severe Oligozoospermia and Sertoli-Cell-Only Syndrome

Tüttelmann, Frank; Simoni, Manuela; Kliesch, Sabine; Ledig, Susanne; Dworniczak, Bernd; Wieacker, Peter; Röpke, Albrecht

doi:10.1371/journal.pone.0019426

Cited by 135 publications

(116 citation statements)

References 40 publications

(31 reference statements)

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“…Recently, CNVs have also been applied to the analysis of male infertility by CGH (Lee et al, 2007;Tuttelmann et al, 2011). However, to the best of our knowledge, little information is available regarding CNVs in males with chromosomal abnormalities and unexplained azoospermia using high throughout genome-wide sequencing.…”

Section: Introductionmentioning

confidence: 99%

Copy number variations in spermatogenic failure patients with chromosomal abnormalities and unexplained azoospermia

Dong¹,

Pan²,

Wang³

et al. 2015

Genet. Mol. Res.

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ABSTRACT. Male infertility is mostly caused by spermatogenic failure. Currently, routine genetic analyses of unexplained azoospermia or oligozoospermia are limited to the investigation of Y chromosomal microdeletions and chromosome karyotype analyses. The aim of this study was to find spermatogenic failure genes in patients with chromosomal abnormalities and unexplained azoospermia caused by copy number variations in order to provide a theoretical basis for further research. Spermatogenic failure patients consisting of 13 males with chromosomal abnormalities and 20 with unexplained azoospermia were enrolled. The subjects underwent high-throughput genome-wide sequencing to find copy number variants (CNVs), and the results were analyzed using the Database of Genomic Variants, Online Mendelian Inheritance in Man database, and PubMed. The results showed that 16 CNVs were detected in 11 patients with chromosome abnormalities, and 26 CNVs were found in 16 males with azoospermia. Our data showed CNV-involved loci including: three times on 11p11.12 and 14q11.2 and twice on 6p21.32, 13q11, 15q11.11, 16p12.2, 16042 Y. Dong et al.

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Section: Introductionmentioning

confidence: 99%

Copy number variations in spermatogenic failure patients with chromosomal abnormalities and unexplained azoospermia

Dong¹,

Pan²,

Wang³

et al. 2015

Genet. Mol. Res.

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“…In case of infertile male clear deletions in Xq21.3, Xq25, Xq26 regions of chromosome X were observed in a mosaic form. It was a constitutional anomaly that could be a cause of infertility [3][4][5][6]. Xq deletion along with other structural and numerical aberrations was the probable cause of male infertility.…”

Section: Discussionmentioning

confidence: 99%

Case Report on Xq Deletion - As a Cause for Primary Infertility in Male

Sharma

Sambyal²,

Kamboj

2016

Int J of Biomed & Adv Res

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Male infertility is often described in terms of role played by Y chromosome and Yq microdeletions. But studies have shown that X chromosome, being enriched for testis specific genes plays a significant role in formation of mature spermatozoa. The couple under study had undergone treatments for infertility including 7 Intrauterine inseminations (IUI) and 6 Invitro Fertilization (IVF) cycles but without any success. On cytogenetic analysis chromosomal aberrations were observed in both male and female partners. But male had more aberrations with major clonal aberrations in the form of Xq deletions. The genes CPXCR1, ARPT1, GLUD-2, SAGE-1 and USP26 are located on Xq21, Xq25 and Xq26 regions. These genes show testis specific expression pattern and play an important role in spermatogenesis. Therefore Xq deletions could be a cause for primary infertility in male.

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“…Several genes on the X-chromosome are known to specifically act on the testis and play an important role in meiosis [22]. Recent studies have frequently detected altered copy number variants (CNVs) of X-chromosome genes in patients with failure of spermatogenesis, although further investigation is needed for clinical application of this finding [23,24].…”

Section: Additional Investigations For Noa Patientsmentioning

confidence: 99%

Management of non‐obstructive azoospermia

Chiba

Enatsu

Fujisawa

2016

Reprod Medicine & Biology

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Non-obstructive azoospermia (NOA) is defined as no sperm in the ejaculate due to failure of spermatogenesis and is the most severe form of male infertility. The etiology of NOA is either intrinsic testicular impairment or inadequate gonadotropin production. Chromosomal or genetic abnormalities should be evaluated because there is a relatively high incidence compared with the normal population. Although rare, NOA due to inadequate gonadotropin production is a condition in which fertility can be improved by medical treatment. In contrast, there is no treatment that can restore spermatogenesis in the majority of NOA patients. Consequently, testicular extraction of sperm under an operating microscope (micro-TESE) has been the firstline treatment for these patients. Other treatment options include varicocelectomy for NOA patients with a palpable varicocele and orchidopexy if undescended testes are diagnosed after adulthood, although management of these patients remains controversial. Advances in retrieving spermatozoa more efficiently by micro-TESE have been made during the past decade. In addition, recent advances in biotechnology have raised the possibility of using germ cells produced from stem cells in the future. This review presents current knowledge about the etiology, diagnosis, and treatment of NOA.

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Copy Number Variants in Patients with Severe Oligozoospermia and Sertoli-Cell-Only Syndrome

Cited by 135 publications

References 40 publications

Copy number variations in spermatogenic failure patients with chromosomal abnormalities and unexplained azoospermia

Copy number variations in spermatogenic failure patients with chromosomal abnormalities and unexplained azoospermia

Case Report on Xq Deletion - As a Cause for Primary Infertility in Male

Management of non‐obstructive azoospermia

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