BACKGROUND: Partial deletions of the AZFc region of the Y chromosome were reported to be a significant risk factor for oligo-/azoospermia. In this study, we assessed the occurrence and frequency of partial AZFc microdeletions in patients with spermatogenic failure and in controls with normal spermatogenesis. METHODS: In a retrospective study design, gr/gr, b1/b3 and b2/b3 deletions were analysed by multiplex PCR in 170 men with normal spermatogenesis and 348 men with non-obstructive oligo-/azoospermia. RESULTS: gr/gr deletions were found in 14 men with oligozoospermia or azoospermia (4.0%) and in three normozoospermic men (1.8%) (NS). b1/b3 deletions were found both in controls (n=1) and in patients (n=1). b2/b3 deletions were significantly more frequent in the normozoospermic (five out of 170) than in the oligo-/azoospermic men (two out of 348). Three novel partial AZFc deletion patterns were found in four oligo-/azoospermic men. No correlation with semen or other clinical parameters was found. CONCLUSIONS: The frequency of gr/gr deletions is not significantly increased in men with oligo-/azoospermia, indicating that they are not sufficient per se to cause spermatogenetic impairment and infertility. b1/b3 and b2/b3 deletions are probably irrelevant for spermatogenesis. Novel deletion patterns found exclusively in infertile men suggest that other, still unexplored partial deletions might contribute to spermatogenic failure.
|Data di pubblicazione:||2005|
|Titolo:||Partial deletions in the AZFc region of the Y chromosome occur in men with impaired as well as normal spermatogenesis.|
|Autore/i:||HUCKLENBROICH K; GROMOLL J; HEINRICH M; HOHOFF C; NIESCHLAG E; M. SIMONI|
|Codice identificativo ISI:||WOS:000226199000028|
|Codice identificativo Scopus:||2-s2.0-12444336969|
|Citazione:||Partial deletions in the AZFc region of the Y chromosome occur in men with impaired as well as normal spermatogenesis / HUCKLENBROICH K; GROMOLL J; HEINRICH M; HOHOFF C; NIESCHLAG E; M. SIMONI. - In: HUMAN REPRODUCTION. - ISSN 0268-1161. - ELETTRONICO. - 20(2005), pp. 191-197.|
|Tipologia||Articolo su rivista|
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