دانلود Genetics of Male Infertility

Abstract

·         Much of idiopathic male infertility is likely to have a genetic cause.

·         Men who have nonobstructive azoospermia or severe oligospermia with total motile count less than5 million should have a karyotype and Y chromosome microdeletion.

·         Klinefelter syndrome (47,XXY) is the most common chromosomal abnormality with a frequency of 1:600 males and has a wide spectrum of clinical presentation.

·         Men with an AZFa, AZFb, AZFb/c microdeletion uniformly have complete absence of spermatogenesis.

·         If a male has congenital bilateral absence of the vas deferens, it is critical to offer him and his partner genetic testing for cystic fibrosis mutations as well as genetic counseling