Azoospermia factor, AZF - DAZ

Klinische Symptomatik

Approximately 20% of all men with infertility exhibit a non-obstructive azoospermia or a variable form of an oligo-astheno-teratozoospermia (OAT syndrome). In 5 to 20% of cases a microdeletion on chromosome Y (AZF region) can be detected. Microdeletions can affect different AZF loci (AZF-a, AZF-b, AZF-c), and mostly affect the region AZF-c which contains the DAZ gene (Deleted in Azoospermia). The clinical features in rare familial cases can vary with regard to the degree of subfertility or infertility. Men with infertility or subfertility should be offered both an analysis of the AZF loci and a chromosomal analysis; men with obstructive azoospermia should be offered a mutational screening of the CFTR gene.

Genetik

Microdeletions of the AZF region on the Y chromosome (Yq11) mostly occur de novo, but may be transferred to male progeny in the case of some preserved fertility (rarely spontaneous or by ICSI).

Häufigkeit

Prevalence in the general population not determined
Prevalence among men with non-obstructive subfertility or infertility about 1 : 5 to 1 : 7.5

 

Diagnostik