ArticleJournal of assisted reproduction and genetics2013
Non-chimerism and chimerism pseudo dicentric Y chromosome: two case reports about azoospermia and cytogenetic/molecular genetic analysis in the Chinese population.
Article in Journal of assisted reproduction and genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed, 5 citations in OpenAlex.
- A novel TEX11 mutation induces azoospermia: a case report of infertile brothers and literature review.BMC medical genetics · 2018Review
- Mosaic isodicentric Y chromosome harboring intact AZF region in a cryptozoospermic male with normal hormone levels.Asian journal of andrologyArticle
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Authors and funding
7 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo report the cytogenetic and molecular genetic analysis of the first two cases of non-chimerism and chimerism karyotype in Chinese male patients who suffer from azoospermia, which may be caused by pseudo dicentric Y chromosomes.
designCase study.
settingAcademic reproductive medicine center. PATIENTS: Two male patients with azoospermia, carrying pseudo dicentric Y chromosome.
interventionsReview the records of inquiry, testicular biopsy, pathological examination, semen routine examination, endocrine evaluation, cytogenetic chromosomal analysis, and FISH detection of peripheral blood to evaluate Y chromosome deletion.
main outcome measuresTo investigate the possible association among pseudo dicentric Y, chimeric status and azoospermia.
resultsTwo patients were both diagnosed with azoospermia by a variety of andrology inspections. Further chromosomal analysis and FISH indicated their pseudo dicentric Y chromosome and different chimerism status. PCR confirmed simultaneous deletions of AZFb and AZFc regions in the Y chromosome of both patients.
conclusionsPseudodicentric Y chromosome affecting the long arm may lead to a male phenotype by duplicating the sex-determining region of Y chromosome (SRY) fragment and chimeric status may further impact patient's hormone levels, which obstruct spermatogenesis. However, the deletion of the azoospermia factor (AZF) is likely the key factor that causes azoospermia.
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