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.


METHODS
Case report.


METHODS
A university hospital.


METHODS
A 34-year-old male with a 2-year history of primary infertility.


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


METHODS
Physical examination and semen analysis.


RESULTS
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.


CONCLUSIONS
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.
Drouineaud
Véronique
V
Laboratoire de Biologie de la Reproduction, Maternité du Bocage, CHU de Dijon, Dijon, France. v.drouineaud@laposte.net
Sagot
Paul
P
Faivre
Laurence
L
Michel
Frédéric
F
Jimenez
Clément
C
D000328:Adult; D002882:Chromosomes, Human, Pair 13; D002883:Chromosomes, Human, Pair 14; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D020554:Sperm Injections, Intracytoplasmic; D014178:Translocation, Genetic; D014649:Vas Deferens / Q000002:abnormalities*
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator