An infertile 45,X male with a SRY-bearing chromosome 13: a clinical case report and literature review

Peng, Di; Zhang, Yongsheng; Zhang, Xinyue; Hu, Cong; Liu, Mei-Han

doi:10.1007/s10815-014-0376-z

Cited by 5 publications

(3 citation statements)

References 8 publications

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“…Translocation of the SRY gene can also be tested by FISH in individuals with 46,XX testicular or ovotesticular DSD [Laino et al, 2014;Baetens et al, 2017]. However, rare locations of the translocated gene can also be uncovered [Peng et al, 2015]. Deletions and amplifications >50 kb can be identified for known chromosomal regions only since FISH probes are designed to be complementary to a known target DNA sequence which is subsequently indicated by the presence or absence of a fluorescent signal.…”

Section: Diagnostic Technologies In Geneticsmentioning

confidence: 99%

The Use of Genetics for Reaching a Diagnosis in XY DSD

Ahmed

Alimussina

Batista

et al. 2022

Sex Dev

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Reaching a firm diagnosis is vital for the long-term management of a patient with a difference or disorder of sex development (DSD). This is especially the case in XY DSD where the diagnostic yield is particularly low. Molecular genetic technology is playing an increasingly important role in the diagnostic process, and it is highly likely that it will be used more often at an earlier stage in the diagnostic process. In many cases of DSD, the clinical utility of molecular genetics is unequivocally clear, but in many other cases there is a need for careful exploration of the benefit of genetic diagnosis through long-term monitoring of these cases. Furthermore, the incorporation of molecular genetics into the diagnostic process requires a careful appreciation of the strengths and weaknesses of the evolving technology, and the interpretation of the results requires a clear understanding of the wide range of conditions that are associated with DSD.

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Section: Diagnostic Technologies In Geneticsmentioning

confidence: 99%

The Use of Genetics for Reaching a Diagnosis in XY DSD

Ahmed

Alimussina

Batista

et al. 2022

Sex Dev

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“…Men with 45,X karyotype normally display a female phenotype. They are infertile and display azoospermia [65]. The underlying mechanism for this abnormality is related to the absence of the genes on the long arm of the Y chromosome which are responsible for spermatogenesis.…”

Section: X Male Syndromementioning

confidence: 99%

“…Since the distal part of the euchromatic long Y arm (Yq11) is lost, these patients have an unbalanced karyotype [52]. Multiple studies showed normal secondary sexual characteristics and normal reproductive hormone levels, but small testes, azoospermia, and germinal aplasia in patients with a 45x Karyotype [65].…”

Section: X Male Syndromementioning

confidence: 99%

Chromosomal aneuploidies and associated rare genetic syndromes involved in male infertility

Marzouni¹,

Harchegani²,

Layali³

2021

JOMH

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Background and objectives: Recent investigations have reported more than 70 genetic syndromes involved in male infertility; however, the majority of these syndromes are extremely rare. We aimed to report the most common chromosomal abnormalities and associated rare genetic syndromes in the context of human male infertility. Materials and Methods: We performed a review of published articles considering the most common chromosomal aneuploidies and rare genetic syndromes associated with male infertility on PubMed, Web of Science, and Scopus. Results: Chromosomal abnormalities are frequently found in infertile men, with an incidence rate of 2-15%. The chromosomal aberrations include the sex and autosomal chromosome abnormalities, as well as numerical and structural defects in chromosomes. There are various rare genetic syndromes involved in male infertility that are caused by structural and numerical abnormalities in chromosomes. Klinefelter syndrome is the most common type of sex chromosome aneuploidy in infertile males. Besides, Y chromosome microdeletions, particularly in azoospermia factor regions, serve as the second most common genetic cause of impaired spermatogenetic in infertile men. These molecular genetic abnormalities not only can be inherited, but also they may transmit to the next generation through assisted reproductive techniques and result in the birth of boys with higher risk of congenital abnormalities and infertility. Despite the normal secondary male sexual characteristics, some patients are azoospermic or severe oligozoospermic men. Therefore, identiﬁcation of these molecular genetic factors and rare genetic disorders is essential in men with unexplained infertility. Discussion and conclusion: Since most of molecular genetic abnormalities can be transmitted to the next generation, identiﬁcation of these rare genetic disorders is crucial for men with unexplained infertility. It is also essential for clinicians and physicians of reproductive medicine and andrologists to initiate genetic evaluation, aneuploidy screening and counseling prior to any therapeutic procedures.

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Karyotype analysis in large sample cases from Shenyang Women's and Children's hospital: a study of 16,294 male infertility patients

et al. 2016

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To explore that it is necessary to routinely detect chromosomes in infertile patients, we investigated peripheral blood lymphocyte karyotype in 16,294 male infertile patients in the north-east of China and analysed the incidence and type of chromosomal anomaly and polymorphism. G-banding karyotype analysis of peripheral blood lymphocytes was performed in 16,294 cases. Semen analysis was performed three times in all the men. PCR and FISH confirmed the presence of the SRY gene. The rate of chromosomal anomaly in the 16,294 male infertile patients was 4.15% (677/16,294). The rates of chromosomal anomaly were 0.24% in normal semen group, 12.6% in light oligoasthenospermia group, 4.7% in moderate-to-severe oligoasthenospermia group and 9.59% in azoospermia group. There are two male infertile patients with 45,X chromosome karyotype. One X male patient had confirmed the presence of the SRY gene and FISH analysis demonstrated its location on the p arm of chromosome 13. The other X male patient had not found SRY gene in its whole-genome DNA. Meanwhile, sperm motility is slightly oligo-asthenozoospermic at the age of 35-39 and nearly azoospermic at the age of 40-45. As the rates of chromosomal anomaly are 0.24% and 12.6% even in normal semen group and light oligoasthenospermia group, the rates of chromosomal polymorphism are 5.36% and 25.51% in normal semen group and light oligoasthenospermia group, respectively; it is necessary to explore peripheral blood lymphocyte karyotype in all infertile couples. We mentioned that Y, 1, 2, 9 and 12 chromosomes were quite important about male infertility. These findings demonstrate that autosomal retention of SRY can be submicroscopic and emphasise the importance of PCR and FISH in the genetic workup of the monosomic X male. At the same time, it suggested that male infertility might be related to meiotic disturbances with spermatogenetic arrest in Y-autosome translocations, which could result in infertility by reduction of sperm production. Last but not least, ageing is one of the factors that could reduce sperm motility and quality.

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An infertile 45,X male with a SRY-bearing chromosome 13: a clinical case report and literature review

Cited by 5 publications

References 8 publications

The Use of Genetics for Reaching a Diagnosis in XY DSD

The Use of Genetics for Reaching a Diagnosis in XY DSD

Chromosomal aneuploidies and associated rare genetic syndromes involved in male infertility

Karyotype analysis in large sample cases from Shenyang Women's and Children's hospital: a study of 16,294 male infertility patients

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