Abstract
Male infertility is often caused by congenital or acquired disorders of spermatogenesis and spermiogenesis; with impaired semen quality ranging from oligo- or oligoasthenoteratozoospermia (OAT) to non-obstructive azoospermia (NOA). While the etiology of OAT remains unclear in many cases, correlation of histopathological findings with cyto- or molecular genetic alterations allows an increasingly accurate differential diagnosis of NOA. Next-generation sequencing techniques have already identified more than 200 genes associated with disorders of spermatogenesis such as spermatogenic arrest or Sertoli cell-only phenotype. Monogenic causes can also be identified for specific structural sperm defects, which reflect disorders of spermiogenesis and can usually be identified by light microscopy. Causal therapeutic options do not exist for genetic disorders of spermatogenesis or spermiogenesis.
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Schuppe, HC., Wyrwoll, M.J., Fietz, D., Tüttelmann, F. (2023). Disorders of Spermatogenesis and Spermiogenesis. In: Nieschlag, E., Behre, H.M., Kliesch, S., Nieschlag, S. (eds) Andrology. Springer, Cham. https://doi.org/10.1007/978-3-031-31574-9_20
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