Genetics of Male Infertility

Neto, Filipe Tenório Lira; Bach, Phil; Najari, Bobby B.; Li, Philip Shihua; Goldstein, Marc

doi:10.1007/s11934-016-0627-x

Cited by 78 publications

(65 citation statements)

References 149 publications

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“…Genetic male infertility disorders include chromosomal alterations, Y chromosome microdeletions, gene mutations, and epigenetic disorders [2]. 45,X/46,XY mosaicism is one of the rare chromosomal alterations and individuals with 45,X/46,XY mosaicism are detected in 1.7/10,000 newborns [3].…”

Section: Introductionmentioning

confidence: 99%

A Rare Cause of Male Infertility: 45,X/46,XY Mosaicism

et al. 2017

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Objective: To present the clinical, chromosomal, and endocrinological features of 8 infertile male cases with the 45,X/46,XY karyotype who were admitted to our infertility clinic. Materials and Methods: The records of cases who were admitted to our infertility clinic between 1999 and 2015 were investigated. Eight cases with 45,X/46,XY were detected. The clinical, endocrinological, and chromosomal assessments were analyzed. Each patient’s height, weight, body mass index, testicular volume, endocrine hormone levels, follow-up period semen analysis, testicular biopsy reports, and karyotype analysis were evaluated retrospectively. Results: Some cases had a short stature, but often their phenotypes were normal. Seven of the cases had normal testosterone levels and all cases, except one, had elevated gonadotropin levels. All cases were azoospermic and testicular biopsy showed Sertoli cell-only syndrome. Peripheral blood karyotype revealed 45,X/46,XY mosaicism in all cases. Metaphase counts and percentages were different. Conclusions: Individuals with 45,X/46,XY mosaicism that have a normal male phenotype form make up a rare subgroup of the 45,X/46,XY karyotype. These individuals usually present with infertility and were diagnosed based on the results of the karyotype analysis during azoo or severe oligospermia evaluation.

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Section: Introductionmentioning

confidence: 99%

A Rare Cause of Male Infertility: 45,X/46,XY Mosaicism

et al. 2017

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“…There may be mutations in specific genes, like azoospermia factor ( AZF ) or cystic fibrosis transmembrane conductance regulator ( CFTR ) [Manvelyan et al, 2008;Wosnitzer et al, 2014;Röpke and Tüttelmann, 2017;Colaco and Modi, 2018;Vander Borght and Wyns, 2018]. Still, fertility may be impaired as well by (a) numerical chromosomal alterations, like (mosaic) trisomy or monosomy of (one of) the gonosomes [Mau-Holzmann, 2005;Manvelyan et al, 2007;Wosnitzer et al, 2014;Neto et al, 2016], (b) structural chromosomal abnormalities, like balanced rearrangements (translocations, insertions, inversions or even complex chromosomal rearrangements) [Liehr and Weise, 2007], or (c) a combination of numerical and structural chromosomal alterations, i.e., the presence of a small supernumerary marker chromosome (sSMC) [Manvelyan et al, 2008;Liehr, 2014;Armanet et al, 2015].…”

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confidence: 99%

Impaired Spermatogenesis due to Small Supernumerary Marker Chromosomes: The Reason for Infertility Is Only Reliably Ascertainable by Cytogenetics

Liehr¹,

Al-Rikabi²

2018

Sex Dev

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Infertile male with small supernumerary marker chromosomes (sSMCs) were studied. Overall, 37 own patients and 166 cases from the literature were included. sSMCs of our own cases were characterized by multicolor-FISH probe sets. Available clinical data of the infertile males were also evaluated, and meta-analysis on suitability of molecular karyotyping for sSMC characterization was done. As a result, sSMCs can be optimally characterized by single-cell directed (molecular) cytogenetics. In infertile males, sSMCs derive predominantly from one of the acrocentric chromosomes, mainly chromosomes 15, 14, and 22. Interestingly, altered spermiograms were found in 62% of the males with an sSMC, while the remainder cases had infertility in connection with recurrent spontaneous abortions. Meta-analysis for detectability of sSMCs by aCGH revealed that 81-87% of the cases would have not been picked up by exclusive use of that approach. Thus, as impaired spermatogenesis is known to be indicative for gross chromosomal anomalies in infertile male patients, it can be concluded from this study that the presence of sSMCs also needs to be considered. However, sSMCs can only be reliably detected by standard karyotyping and not by modern high throughput approaches like aCGH and next-generation sequencing.

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“…About 50% of the etiology of infertility can be attributed to male factors, of which 15-30% contribute to genetic abnormalities like chromosomal defects, Y chromosome microdeletion, single gene mutations, and epigenetic disorders [Neto et al, 2016]. The frequency of chromosomal abnormalities is higher in patients with abnormal spermatozoa, with the number of sex chromosome abnormalities being greater in azoospermia patients and autosomal chromosome abnormalities being greater in patients with oligozoospermia [Vijayalakshmi et al, 2011].…”

confidence: 99%

Localization of the <b><i>SRY</i></b> Gene on Chromosome 3 in a Patient with Azoospermia and a Complex Karyotype 45,X/46,X,i(Y)(q10)/46,XX/ 47,XX,i(Y)(q10)

Barnabas¹,

Sumathy²,

Indumathi

et al. 2018

Cytogenet Genome Res

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This study aimed to identify the cause of azoospermia in a 38-year-old infertile man who was referred for genetic testing. Cytogenetic evaluation was performed by G-banding, C-banding, and FISH using centromeric probes for chromosomes X and Y and showed the presence of a monocentric isochromosome Y with a complex, mosaic karyotype 45,X/46,X,i(Y)(q10)/46,XX/47,XX,i(Y)(q10). Multiplex PCR for the commonly deleted genes in the AZFa, AZFb, and AZFc regions of the Y chromosome was performed and indicated the presence of all 3 regions. Further, PCR amplification followed by DNA sequencing of the SRY gene was done, which ruled out mutations in that gene. To identify the position of the SRY gene, FISH using a locus-specific probe was used and showed that the gene had been translocated to chromosome 3. Subtelomere FISH for 3q and Yp evidenced that the subtelomeric region of the Y chromosome was found on the terminal region of 3q. The clinical symptoms of the patient can be attributed to this abnormal genotype. The importance of genetic testing in infertile patients and the need for genetic counselling to prevent the transmission of the defect are emphasized.

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Genetics of Male Infertility

Cited by 78 publications

References 149 publications

A Rare Cause of Male Infertility: 45,X/46,XY Mosaicism

A Rare Cause of Male Infertility: 45,X/46,XY Mosaicism

Impaired Spermatogenesis due to Small Supernumerary Marker Chromosomes: The Reason for Infertility Is Only Reliably Ascertainable by Cytogenetics

Localization of the <b><i>SRY</i></b> Gene on Chromosome 3 in a Patient with Azoospermia and a Complex Karyotype 45,X/46,X,i(Y)(q10)/46,XX/ 47,XX,i(Y)(q10)

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