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Iswarya Fertility Centre & Women's Hospital
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.

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 mutations

How It's Diagnosed

Semen analysis
Semen pH and volume
Scrotal ultrasound
CFTR gene mutation panel
Carrier testing of female partner

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