Abstract
Both balanced and unbalanced structural chromosomal alterations can lead to fertility disorders. In oligozoospermia, especially balanced autosomal translocations play a role, and in azoospermia aberrations of the sex chromosomes may be causative. Structural chromosomal aberrations lead to significantly increased risks of miscarriage/stillbirth or birth of a mentally/physically handicapped child. Therefore, chromosome analyses are indicated in men with oligo- or azoospermia, but also generally in cases of infertility. The Y-chromosomal AZF deletions are of particular importance in cases of severe oligo- and azoospermia, since, on the one hand, they represent a cause and, on the other hand, they allow a prognosis about the chances of sperm retrieval in a testicular biopsy.
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References
DGGG (2019) Diagnosis and therapy before assisted reproductive treatments. Guideline of the DGGG, OEGGG and SGGG (S2k Level, AWMF Register Number 015–085, February 2019) Geburtshilfe Frauenheilkd 2019; 79(12): 1278–1292. https://doi.org/10.1055/a-1017-3389
Dul EC, Van Ravenswaaij-Arts CMA, Groen H, Van Echten-Arends J, Land JA (2010) Who should be screened for chromosomal abnormalities before ICSI treatment? Hum Reprod 25:2673–2677
Krausz C, Hoefsloot L, Simoni M, Tüttelmann F (2014) EAA/EMQN best practice guidelines for molecular diagnosis of Y-chromosomal microdeletions: state-of-the-art 2013. Andrology 2:5–19
Noordam MJ, Repping S (2006) The human Y chromosome: a masculine chromosome. Curr Opin Genet Dev 16:225–232
Rolf C, Gromoll J, Sinoni M, Nieschlag E (2002) Natural transmission of partial AZFb deletion of the Y chromosome over three generations: case report. Hum Reprod 17:2267–2271
Simoni M, Tüttelmann F, Gromoll J, Nieschlag E (2008) Clinical consequences of microdeletions of the Y chromosome: the extended Münster experience. Reprod Biomed Online 16:289–303
Tüttelmann F, Rajpert-De Meyts E, Nieschlag E, Simoni M, Meyts ER, Nieschlag E, Simoni M (2007) Gene polymorphisms and male infertility - a meta-analysis and literature review. Reprod Biomed Online 15:643–658
Vogt PH, Edelmann A, Kirsch S, Henegariu O, Hirschmann P, Kiesewetter F, Köhn FM, Schill WB, Farah S, Ramos C, Hartmann M, Hartschuh W, Meschede D, Behre HM, Castel A, Nieschlag E, Weidner W, Gröne HJ, Jung A, Engel W, Haidl G (1996) Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11. Hum Mol Genet 5:933–943
Zhu XB, Liu YL, Zhang W, Ping P, Cao XR, Liu Y, Huang YR, Li Z (2010) Vertical transmission of the Yq AZFc microdeletion from father to son over two or three generations in infertile Han Chinese families. Asian J Androl 12:240–246
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Tüttelmann, F., Röpke, A. (2023). Structural Chromosomal Changes. In: Nieschlag, E., Behre, H.M., Kliesch, S., Nieschlag, S. (eds) Andrology. Springer, Cham. https://doi.org/10.1007/978-3-031-31574-9_23
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DOI: https://doi.org/10.1007/978-3-031-31574-9_23
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