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- W2023562625 abstract "Objectives: Y chromosome microdeletions are frequently associated with male infertility. The incidence of Y deletions varies in a wide range between 1–55% in different studies. Study design and type of markers used for screening appear to be the main reason for these differences. We report a large double blind survey of microdeletions in DNA samples from infertile and healthy men with detailed semen analysis parameters of Danish origin. Design: We analyzed 124 consecutive ICSI patients (48 affected by idiopathic azoo/oligozoospermia), 100 fertile men and 107 young men from the general Danish population. Materials and Methods: The study population was screened for 15 anonymous STS markers on the Yq, including the AZFa, AZFb and AZFc regions and for the genes DBY, eIF-1AY, XKRY, CDY, BPY2 and DAZ Results: Deletions were identified 6 infertile patients affected by azoospermia and cryptozoospermia (<1 × 106/ml) (4 and 2 patients respectively). The deletions removed the whole AZFc region, including the genes BPY2 and DAZ. In two cases testicular histology were available showing spermatid arrest and SCOS. FSH levels were above the normal range with very low or undetectable levels of inhibin B in the 6 patients. In the infertile group we found a deletion frequency of 4.8%. Subdivision of the study population revealed a deletion incidence of 17.8% in idiopathic and 2.9% in non-idiopathic azoo/cryptozoospermic patients. No isolated gene-specific deletions were found. Conclusions: The lack of deletions among 207 normal controls gives further evidence that Y deletions are specific for reduced testicular function and suggests that Y chromosome microdeletions are not involved in the high incidence of reproductive abnormalities and relatively low sperm counts of Danish population in comparison with e.g. Finland." @default.
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- W2023562625 date "2000-09-01" @default.
- W2023562625 modified "2023-10-17" @default.
- W2023562625 title "Y Chromosome Microdeletion Analysis in Infertile and Fertile Danish Men Indicate That Microdeletions Are Specific for Spermatogenic Failure and Do Not Explain Reduced Sperm Counts in the General Danish Population" @default.
- W2023562625 doi "https://doi.org/10.1016/s0015-0282(00)01080-3" @default.
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