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Title
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Nonmosaic isodicentric Y chromosome : a rare cause of Azoospermia: from genetics to clinical practice
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Author
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Abstract
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| Azoospermia is diagnosed when no spermatozoa can be detected after centrifugation of seminal fluid on at least two separate occasions. A number of genetic disorders can be related to nonobstructive azoospermia, and in up to 15% of azoospermic males, a genetic disorder is diagnosed. A 36-year-old male with nonobstructive azoospermia was referred to our department of diabetes and endocrinology due to an aberrant testicular biopsy. The biopsy showed a disrupted spermatogenesis with a maturation arrest at the spermatocyte level in most tubuli seminiferi while others showed a Sertoli cell-only syndrome. Screening for Y chromosome microdeletions on peripheral blood using molecular analysis detected a terminal deletion of AZFbc. The result of karyotyping and fluorescence in situ hybridization (FISH) described an isodicentric Y chromosome with karyotype 46,X,idic(Y)(q11.22). Based on this case and the current available literature, we conclude that performing a testicular biopsy in patients with a nonmosaic idic(Y)(q) is not meaningful and that the prognosis on infertility is poor. Biological fatherhood is extremely unlikely in these patients, and proper counselling should be provided. |
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Language
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English
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Source (journal)
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Case reports in endocrinology. - New York, NY, 2011, currens
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Publication
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New York, NY
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Hindawi Pub. Corp
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2020
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ISSN
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2090-6501
2090-651X
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DOI
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10.1155/2020/8828740
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Volume/pages
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2020
(2020)
, p. 1-5
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Article Reference
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8828740
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ISI
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000561285700001
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Pubmed ID
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32774944
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Medium
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E-only publicatie
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Full text (Publisher's DOI)
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Full text (open access)
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