title: Normal live birth after testicular sperm extraction and intracytoplasmic sperm injection in variant primary ciliary dyskinesia with completely immotile sperm and structurally abnormal sperm tails.
abstract: OBJECTIVE
  To report on the investigation and fertility management of variant primary ciliary dyskinesia (PCD).
  
  
  METHODS
  Case report.
  
  
  METHODS
  University-affiliated assisted reproductive technologies practice.
  
  
  METHODS
  A 40 year-old man presenting with 12 months' primary infertility, complete sperm immotility, severe morphologic defects, and moderate sinopulmonary disease.
  
  
  METHODS
  Electron microscopy (EM) of sperm, nasal cilial function studies, open testis biopsy, and sperm extraction for intracytoplasmic sperm injection (ICSI).
  
  
  METHODS
  Outcome of ICSI treatment using immotile testicular sperm.
  
  
  RESULTS
  EM revealed abnormal connecting pieces, shortened midpieces with attenuated mitochondrial sheaths, poorly developed annulus, abnormal outer dense fibers, and axonemes missing the two central mircotubules. Nasal ciliary beat frequency was subnormal and dyssynchronous. Immotile testicular sperm were selected for ICSI based on physical characteristics and fertilized 12 of 18 eggs. A single day-5 blastocyst achieved a normal pregnancy and delivery of a healthy 3,840-g girl at 38 weeks' gestation.
  
  
  CONCLUSIONS
  Nonclassic PCD may present with structurally abnormal completely immotile sperm, with seemingly little prospect of fertility, and moderate respiratory dysfunction supporting the presence of an underlying ciliopathy. Despite testicular sperm also being immotile and showing profound structural defects that would seem to preclude fertilization, more morphologically normal sperm are capable of establishing a normal pregnancy.
authors.affiliation: Monash IVF, Hawthorn, Australia. rob.mclachlan@princehenrys.org
authors.forename: Robert I
authors.initials: RI
authors.lastname: McLachlan
authors.forename: Tomomoto
authors.initials: T
authors.lastname: Ishikawa
authors.forename: Tiki
authors.initials: T
authors.lastname: Osianlis
authors.forename: Phil
authors.initials: P
authors.lastname: Robinson
authors.forename: Donna Jo
authors.initials: DJ
authors.lastname: Merriner
authors.forename: David
authors.initials: D
authors.lastname: Healy
authors.forename: David
authors.initials: D
authors.lastname: de Kretser
authors.forename: Moira K
authors.initials: MK
authors.lastname: O'Bryan
mesh_terms: D000328:Adult; D053627:Asthenozoospermia / Q000235:genetics / Q000473:pathology / Q000628:therapy*; D001706:Biopsy; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007619:Kartagener Syndrome / Q000150:complications* / Q000235:genetics / Q000473:pathology; D050498:Live Birth; D008297:Male; D046529:Microscopy, Electron, Transmission; D011247:Pregnancy; D020554:Sperm Injections, Intracytoplasmic; D013081:Sperm Motility; D053625:Sperm Retrieval; D013082:Sperm Tail / Q000648:ultrastructure; D013094:Spermatozoa / Q000002:abnormalities* / Q000648:ultrastructure; D016896:Treatment Outcome