title: Birth after intracytoplasmic injection of epididymal sperm from a man with congenital bilateral absence of the vas deferens who had a robertsonian translocation.
abstract: 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.
authors.affiliation: Laboratoire de Biologie de la Reproduction, Maternité du Bocage, CHU de Dijon, Dijon, France. v.drouineaud@laposte.net
authors.forename: Véronique
authors.initials: V
authors.lastname: Drouineaud
authors.forename: Paul
authors.initials: P
authors.lastname: Sagot
authors.forename: Laurence
authors.initials: L
authors.lastname: Faivre
authors.forename: Frédéric
authors.initials: F
authors.lastname: Michel
authors.forename: Clément
authors.initials: C
authors.lastname: Jimenez
mesh_terms: 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*
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator