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Y-chromosome microdeletions: a controversial indication for preimplantation sex selection in pairs with andrological factor of infertility

Kosarova M., Siruckova K., Maskova S., Hlinka D., Weber V., Gregor V., Sobotka V.

Status neindexováno Jazyk angličtina Země Česko

Typ dokumentu abstrakty

Perzistentní odkaz   https://www.medvik.cz/link/bmc07518282

A genetic etiology has been proposed for some severe forms of idiopathic male infertility and a region of the Y chromosome long arm (Yq) defined AZF is thought to be critical for the regulation of spermatogenesis. To date, several genes have been identified in AZF, but the actual relationship between genotype and phenotype related to AZF deletions is not well characterized. ICSI performed using spermatozoa of this deleted patiens will invariably pass this defect onto their male offspring. PGD for sex selection of preimplantation embryos is indicated in these patients. Material and methods: 762 azoospermic and severe oligozoospermic patiens from our IVF centrum were observed. Multiplex PCR strategy, 12 STSs in AZF region was used. Results: Microdeletions in AZF region were found in 15 men. Two pairs decided for PGD sex selection. Case report is presented in the oral presentation. Conclusions: Ethical and practical aspects of PGD indication for sex selection in Y-deleted men are discussed.

3. český a mezinárodní andrologický kongres, Štiřín, 13.-15.6.2008

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$a A genetic etiology has been proposed for some severe forms of idiopathic male infertility and a region of the Y chromosome long arm (Yq) defined AZF is thought to be critical for the regulation of spermatogenesis. To date, several genes have been identified in AZF, but the actual relationship between genotype and phenotype related to AZF deletions is not well characterized. ICSI performed using spermatozoa of this deleted patiens will invariably pass this defect onto their male offspring. PGD for sex selection of preimplantation embryos is indicated in these patients. Material and methods: 762 azoospermic and severe oligozoospermic patiens from our IVF centrum were observed. Multiplex PCR strategy, 12 STSs in AZF region was used. Results: Microdeletions in AZF region were found in 15 men. Two pairs decided for PGD sex selection. Case report is presented in the oral presentation. Conclusions: Ethical and practical aspects of PGD indication for sex selection in Y-deleted men are discussed.
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