Are AZFb deletions always incompatible with sperm production?

Abstract:

:Deletions on the long arm of the Y chromosome are a well-known cause of male infertility and it is generally accepted that deletions involving the AZFb region are not compatible with sperm production. Here, we report on two patients for whom basic diagnostic tests showed a deletion of the AZFb region. Unexpectedly, both patients had some residual sperm production. Subsequently, extension and additional analyses of the AZFb region disclosed an aberrant deletion pattern. Therefore, these results emphasize the need for a detailed and powerful analysis of cases where first-line Yq deletion tests reveal an AZFb deletion. Moreover, our study clearly demonstrated that only a very careful selection of test markers will avoid the pitfall of a 'no further treatment possible' wrongful conclusion.

journal_name

Andrology

journal_title

Andrology

authors

Stouffs K,Vloeberghs V,Gheldof A,Tournaye H,Seneca S

doi

10.1111/andr.12350

subject

Has Abstract

pub_date

2017-07-01 00:00:00

pages

691-694

issue

4

eissn

2047-2919

issn

2047-2927

journal_volume

5

pub_type

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