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Obstructive Azoospermia Revealing CFTR-Related Disorder in an Adult With Recurrent Pancreatitis
Hector R Gonzalez-Carranza1, Gonzalo Montero-Sanchez2, Lisandro C Vazquez-Niño3
1Department of Urology, Hospital Angeles Metropolitano, Mexico City, MEX.
Congenital bilateral absence of the vas deferens, a cause of obstructive azoospermia, can be linked to Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene variants. This case highlights a specific CFTR variant
Area of Science:
- Urology
- Genetics
- Reproductive Medicine
Background:
- Obstructive azoospermia is a key factor in male infertility.
- Congenital bilateral absence of the vas deferens (CBAVD) is a known cause of obstructive azoospermia.
- CBAVD is frequently associated with variants in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene.
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