Birth after intracytoplasmic injection of epididymal sperm from a man with congenital bilateral absence of the vas deferens who had a robertsonian translocation.

OBJECTIVE

To present the first case of an infertile male with azoospermia related to a congenital bilateral absence of the vas deferens (CBAVD), in which mutations within the cystic fibrosis transmembrane conductance regulator (CFTR) gene coexist with a robertsonian translocation.

DESIGN

Case report.

SETTINGS: A university hospital.

PATIENT(S): A 34-year-old male with a 2-year history of primary infertility.

INTERVENTION(S): Lymphocytic karyotype, polymerase chain reaction (PCR) and allele oligonucleotide-specific hybridization (ASO), microsurgical epididymal sperm aspiration (MESA), and intracytoplasmic sperm injection (ICSI).

MAIN OUTCOME MEASURE(S): Physical examination and semen analysis.

RESULT(S): Semen analyses revealed azoospermia and a well-recognized obstructive phenotype. Analysis of the CFTR gene revealed a compound heterozygosity for a 2184 del A + 2183 A --> G mutation on one allele and the 5T variant within the polypyrimidine tract of intron 8 on the other allele. Cytogenetic analyses revealed a t(13;14)(q10;q10) robertsonian translocation in the same patient. Microsurgical epididymal sperm aspiration allowed retrieval of a million mature motile spermatozoa, excluding any spermatogenic impairment secondary to the genetic abnormalities found in this patient. Epididymal sperm was used for an intracytoplasmic sperm injection program, and a normal child was born at term.

CONCLUSION(S): This case illustrates that two distinct genetic defects may coexist, with a variable effect on male fertility but with important implications for genetic counseling of the future pregnancy.