title: Studying nonobstructive azoospermia in cystinosis: histologic examination of testes and epididymis and sperm analysis in a Ctns⁻/⁻ mouse model.
abstract: OBJECTIVE
  To study the pathogenesis of male infertility in cystinosis due to nonobstructive azoospermia, using a Ctns(-/-) mouse model.
  
  
  METHODS
  Observational case-control study.
  
  
  METHODS
  Academic research laboratory.
  
  
  METHODS
  Male C57BL/6 Ctns(-/-) mice were compared with C57BL/6 wild-type (wt) mice.
  
  
  METHODS
  None.
  
  
  METHODS
  Fertility was studied using litter size (n = 3 vs. n = 2). After animals were sacrificed, testes, epididymis, and vas deferens were removed for testicular cystine measurements (n = 5 vs. n = 6), histologic studies (n = 3 vs. n = 3), and sperm analysis (n = 3 vs. n = 3).
  
  
  RESULTS
  Mean testicular cystine content was significantly higher in Ctns(-/-) mice compared with wt mice (26.6 ± 1.22 vs. 0.1 ± 0.01 nmol cystine/mg protein). Testes of Ctns(-/-) mice had lower weight compared with wt mice (0.096 ± 0.009 g vs. 0.112 ± 0.004 g), but mice fertility was similar (litter size 6.6 ± 1.4 vs. 6.3 ± 2.6 pups). Neither histologic nor sperm abnormalities were found.
  
  
  CONCLUSIONS
  The Ctns(-/-) mouse model generated on C57BL/6 background is not suitable for clarifying the pathogenesis of male infertility in cystinosis. The etiology of nonobstructive azoospermia in these patients remains unclear.
authors.affiliation: Department of Pediatric Nephrology, University Hospitals Leuven, Leuven, Belgium. martine.besouw@uzleuven.be
authors.forename: Martine T P
authors.initials: MT
authors.lastname: Besouw
authors.forename: Ans M M
authors.initials: AM
authors.lastname: van Pelt
authors.forename: Héloïse P
authors.initials: HP
authors.lastname: Gaide Chevronnay
authors.forename: Pierre J
authors.initials: PJ
authors.lastname: Courtoy
authors.forename: Anna
authors.initials: A
authors.lastname: Pastore
authors.forename: Ellen
authors.initials: E
authors.lastname: Goossens
authors.forename: Olivier
authors.initials: O
authors.lastname: Devuyst
authors.forename: Corinne
authors.initials: C
authors.lastname: Antignac
authors.forename: Elena N
authors.initials: EN
authors.lastname: Levtchenko
mesh_terms: D026921:Amino Acid Transport Systems, Neutral / Q000235:genetics*; D000818:Animals; D053713:Azoospermia / Q000150:complications / Q000235:genetics / Q000473:pathology*; D003554:Cystinosis / Q000150:complications / Q000235:genetics / Q000473:pathology*; D004195:Disease Models, Animal; D004822:Epididymis / Q000473:pathology*; D005260:Female; D007248:Infertility, Male / Q000209:etiology / Q000235:genetics / Q000473:pathology; D008098:Litter Size / Q000235:genetics; D008297:Male; D051379:Mice; D008810:Mice, Inbred C57BL; D018345:Mice, Knockout; D011247:Pregnancy; D055101:Semen Analysis; D013737:Testis / Q000473:pathology*
chemical_list: D026921:Amino Acid Transport Systems, Neutral; C534463:cystinosin protein, mouse