Prevalence of CBAVD in azoospermic men carrying pathogenic CFTR mutations ‐ Evaluated in a cohort of 639 non‐vasectomized azoospermic men

Background Men with obstructive azoospermia (OA) due to impaired development of the genital tract often carry at least one Cystic Fibrosis Transmembrane Conductance Regulator CFTR mutation. Objective To determine the frequency of Congenital Bilateral Absence of Vas deferens (CBAVD) in men with azoos...

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Bibliographic Details
Published in:Andrology (Oxford) 2021-03, Vol.9 (2), p.588-598
Main Authors: Fedder, Jens, Jørgensen, Mette W., Engvad, Birte
Format: Article
Language:English
Subjects:
azoospermia
Biopsy
CBAVD
CFTR mutations
CUAVD
Male reproductive system
Mens health
Mutation
Original
Ovarian cancer
testis
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Summary:Background Men with obstructive azoospermia (OA) due to impaired development of the genital tract often carry at least one Cystic Fibrosis Transmembrane Conductance Regulator CFTR mutation. Objective To determine the frequency of Congenital Bilateral Absence of Vas deferens (CBAVD) in men with azoospermia carrying CFTR gene mutations. Materials and methods Non‐vasectomized men with azoospermia referred to our andrological center were consecutively included. All men underwent palpation of the scrotal parts of the Vasa deferentia, ultrasonography of the testicles and hormone profile, and genetic analyses. Testicular biopsy was usually performed. A panel of 32 of the most important CFTR mutations was examined from genomic DNA isolated from blood lymphocytes. Either multiplex PCR analysis or a next‐generation sequencing technique was performed. Results Among the 639 men with azoospermia, 69 (10.8%) had at least one CFTR mutation. Of the 43 patients with at least one of the two CFTR mutations, ΔF508 and R117H, 19 (44.2%) showed CBAVD, 2 (4.7%) Congenital Unilateral Absence of Vas deferens (CUAVD), and 22 (51.2%) presence of the scrotal parts of the Vasa deferentia. In contrast, only 1/21 men (4.8%) with an isolated IVS8‐5T variant showed CBAVD. Among the further 20 men with an isolated IVS8‐5T variant, 11 had a history of cryptorchidism. Among the 570 men without CFTR mutations, CBAVD was found in only two men and CUAVD in one. FSH level was higher and testicular volume lower in men with present Vasa deferentia compared to those without (P 
ISSN:2047-2919
2047-2927
DOI:10.1111/andr.12925