Genital Abnormalities in Male Patients with Cystic Fibrosis

Holsclaw, Douglas S.; Perlmutter, Alan D.; Jockin, Hubert; Shwachman, Harry

doi:10.1016/s0022-5347(17)61343-0

Cited by 156 publications

(59 citation statements)

References 16 publications

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“…Congenital bilateral absence of vas deferens is the most common cause of male sterility in otherwise healthy males with an incidence of about 1:1000 males (Holsclaw et al 1971;Mak and Jarvi 1996). Many reports from different countries have identified that the disorder is associated with mutations in the CFTR gene, and the development of new technologies allowing the scanning and the rapid sequencing of the coding sequence of the gene shows that CBAVD patients are carrying in about 80% of cases two mutated alleles in the CFTR gene (Jarvi et al 1998;Claustres et al 2000).…”

Section: Cftr Mutations Associated With Cbavdmentioning

confidence: 99%

Assessing the Disease-Liability of Mutations in CFTR

Férec

Cutting

2012

Cold Spring Harbor Perspectives in Medicine

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Section: Cftr Mutations Associated With Cbavdmentioning

confidence: 99%

Assessing the Disease-Liability of Mutations in CFTR

Férec

Cutting

2012

Cold Spring Harbor Perspectives in Medicine

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“…CFTR mRNA was detected in rat testicular tissue, where it was expressed in post-meiotic round spermatids (Trezise et al, 1993b). Histological studies of testicular tissue in men with clinical CF and CBAVD showed possible cytological abnormalities that preferentially occur at the spermatid stages (Kaplan et al, 1968;Gottlieb et al, 1991) and a reduction in the number of mature spermatozoa found in testicular biopsy (Holsclaw et al, 1971).…”

Section: Introductionmentioning

confidence: 97%

Screening for cystic fibrosis transmembrane conductance regulator gene mutations in men included in an intracytoplasmic sperm injection programme

Boucher¹,

Creveaux²,

Grizard³

et al. 1999

Molecular Human Reproduction

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The present study was undertaken to evaluate the frequency and nature of mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene in infertile patients undergoing intracytoplasmic sperm injection. A total of 90 patients were screened for a panel of 10 mutations in the CFTR gene frequently involved in congenital absence of the vas deferens (CAVD); the patients included 14 with azoospermia and CAVD, 39 patients with azoospermia without CAVD (n ⍧ 39) and 37 patients with severe oligozoospermia. The length of the polymorphic polypyrimidine tract (allele 5T, 7T and 9T) in the intron 8/exon 9 splice-acceptor site was also determined. In 10 out of 14 patients with CAVD, CFTR mutations were found; nine patients had one ∆ ∆F508 mutation and one patient had two CFTR mutations (N1303K/R117H). Allele 5T was present in eight of these patients. In six patients, 5T was the non-∆ ∆F508 allele and in two patients there was no known CFTR mutation. None of the CFTR mutations were observed in patients with azoospermia without CAVD or with severe oligozoospermia and the frequency of allele 5T was 3.6% (three out of 78 alleles) and 1.35% (one out of 74 alleles) respectively. Our observation suggests that the CFTR gene is not involved in either spermatogenesis or in the pathology of the genital tract, except for CAVD.

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“…Congenital bilateral absence of vas deferens (CBAVD; OMIM 277180) was shown to occur in almost all male patients affected with cystic fibrosis (CF; OMIM 219700) (Holsclaw et al, 1971;de la Taille et al, 1998). CBAVD occurs in , 1-2% of infertile but otherwise healthy men (Holsclaw et al, 1971).…”

Section: Introductionmentioning

confidence: 99%

“…CBAVD occurs in , 1-2% of infertile but otherwise healthy men (Holsclaw et al, 1971). It also accounts for as much as 25% of infertile males with obstructive azoospermia (Chillon et al, 1995;Patrizio and Salameh, 1998).…”

Section: Introductionmentioning

confidence: 99%