MUTATION FREQUENCY OF CYSTIC-FIBROSIS TRANSMEMBRANE REGULATOR IS NOT INCREASED IN OLIGOZOOSPERMIC MALE CANDIDATES FOR INTRACYTOPLASMIC SPERM INJECTION

Objective: To examine the frequency of anomalies of the vas deferens a nd the frequency of mutations of the cystic fibrosis transmembrane reg ulator (CFTR) gene in male candidates for intracytoplasmic sperm injec tion (ICSI) who had severe oligoasthenoteratozoospermia. Design: The c linical data for male candidates for ICSI were studied. The three most frequent cystic fibrosis (CF)-causing CFTR mutations in the Dutch pop ulation (Delta F508, A455E, and G542X) and the three most frequent CFT R mutations potentially causing congenital bilateral absence of the va s deferens (CBAVD) in the Dutch population (Delta F508, R117H, and IVS 8-5T) were analyzed. Delta I507 is also detected by the Delta F508 tes t. Samples of DNA from patients identified as CFTR mutation carriers w ere subjected to denaturing gradient gel electrophoresis analysis with use of a two-dimensional electrophoretic technique. Setting: Universi ty-based center for reproductive medicine and clinical genetics. Patie nt(s): Male candidates for ICSI who had oligoasthenoteratozoospermia a nd no history of operative sterilization and refertilization. Males wi th a chromosomal aberration or a Y-chromosome microdeletion were exclu ded. Intervention(s): Semen and blood samples were collected from the patients at their first visit to the clinic. Main Outcome Measure(s): Frequency of anomalies of the vas deferens and frequency of mutations of the CFTR gene in male candidates for ICSI who had oligoasthenoterat ozoospermia. Result(s): None of the patients had abnormalities of the vas deferens at physical examination. In 4 of the 150 chromosomes (75 patients), a CFTR mutation was found, yielding a CFTR mutation frequen cy of 2.7% (95% confidence interval, 1.0-6.7%). None of the patients h ad two CFTR mutations. Conclusion(s): The frequency of congenital abno rmalities of the vas deferens in patients with oligoasthenoteratozoosp ermia is low. The frequencies of the CFTR mutations identified in this cohort did not differ significantly from the frequencies found in the normal Dutch population. (C) 1998 by American Society for Reproductiv e Medicine.