Male Infertility
CFTR Mutations and Male Infertility
CFTR mutations cause congenital bilateral absence of the vas deferens (CBAVD), resulting in obstructive azoospermia despite normal spermatogenesis.
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Overview
Overview
CFTR mutations cause congenital bilateral absence of the vas deferens (CBAVD), resulting in obstructive azoospermia despite normal spermatogenesis.
Symptoms
Azoospermia
Absent or atrophic vasa deferentia
Low semen volume
Acidic semen pH
Causes
1
Homozygous or compound heterozygous CFTR mutationsHow It's Diagnosed
Semen analysis
Semen pH and volume
Scrotal ultrasound
CFTR gene mutation panel
Carrier testing of female partner
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