Y chromosome microdeletion screening in infertile men in France: A survey of French practice based on 88 IVF centres

Human Reproduction

Volumn 19, Issue 4, 2004, Pages 788-793

  Aknin Seifer, Isabelle Esther ^a,b   Lejeune, Hervé ^c   Touraine, Renaud Laurian ^b   Levy, Rachel ^a  

^a HÔPITAL NORD   (France)

^b UNIVERSITÉ JEAN MONNET   (France)

^c EDOUARD HERRIOT HOSPITAL   (France)

Author keywords

France; Male infertility; Microdeletions; Survey; Y chromosome

Indexed keywords

ARTICLE; AZOOSPERMIA; CHROMOSOME DELETION Y; CLINICAL PRACTICE; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; DIAGNOSTIC VALUE; DISEASE SEVERITY; FERTILIZATION IN VITRO; FRANCE; GENETIC SCREENING; HEALTH CARE COST; HEALTH CARE FINANCING; HEALTH INSURANCE; HEALTH SURVEY; HUMAN; LABORATORY DIAGNOSIS; MALE; MALE INFERTILITY; MEDICAL INFORMATION; OLIGOSPERMIA; PATHOGENESIS; QUESTIONNAIRE; SPERMATOGENESIS; STANDARDIZATION; TREATMENT INDICATION;

EID: 1842428031     PISSN: 02681161     EISSN: None     Source Type: Journal    
DOI: 10.1093/humrep/deh157     Document Type: Article

References (45)

1. Aknin-Seifer IE, Touraine RL, Lejeune H, Laurent JL, Lauras B and Levy R (2003) A simple, low cost and non-invasive method for screening Y-chromosome microdeletions in infertile men. Hum Reprod 18,257-261.
2. Bor P, Hindkjaer J, Ingerslev HJ and Kolvraa S (2001) Multiplex PCR for screening of microdeletions on the Y chromosome. J Assist Reprod Genet 18,291-298.
3. Brandell RA, Mielnik A, Liotta D, Ye Z, Veeck LL, Palermo GD and Schlegel PN (1998) AZFb deletions predict the absence of spermatozoa with testicular sperm extraction: Preliminary report of a prognostic genetic test. Hum Reprod 13,2812-2815.
4. Cayan S, Lee D, Black LD, Reijo Pera RA and Turek PJ (2001) Response to varicocelectomy in oligospermic men with and without defined genetic infertility. Urology 57,530-535.
5. Chang PL, Sauer MV and Brown S (1999) Y chromosome microdeletion in a father and his four infertile sons. Hum Reprod 14,2689-2694.
6. Cram DS, Ma K, Bhasin S, Ariasc J, Pandjaitanc M, Chu B, Audrins MS, Saunders D, Quinn F, deKretser D et al. (2000) Y chromosome analysis of infertile men and their sons conceived through intracytoplasmic sperm injection: Vertical transmission of deletions and rarity of de novo deletions. Fertil Steril 74,909-915.
7. Dada R, Gupta N and Kucheria K (2003) Semen cryoconservation in men with AZFc microdeletion. Clin Genet 64,74-75.
8. Ferlin A, Moro E, Rossi A, Dallapiccola B and Foresta C (2003) The human Y chromosome's azoospermia factor b (AZFb) region: sequence, structure, and deletion analysis in infertile men. J Med Genet 40,18-24.
9. Foote S, Vollrath D, Hilton A and Page DC (1992) The human Y chromosome: Overlapping DNA clones spanning the euchromatic region. Science 258,60-66.
10. Girardi SK, Mielnik A and Schlegel PN (1997) Submicroscopic deletions in the Y chromosome of infertile men. Hum Reprod 12,1635-1641.
11. Henegariu O, Heerema NA, Dlouhy SR, Vance GH and Vogt PH (1997) Multiplex PCR: Critical parameters and step-by-step protocol. Biotechniques 23,504-511.
12. Hopps CV, Mielnik A, Goldstein M, Palermo GD, Rosenwaks Z and Schlegel PN (2003) Detection of sperm in men with Y chromosome microdeletions of the AZFa, AZFb and AZFc regions. Hum Reprod 18,1660-1665.
13. Jaruzelska J, Korcz A, Wojda A, Jedrzejczak P, Bierla J, Surmacz T, Pawelczyk L, Page DC and Kotecki M (2001) Mosaicism for 45,X cell line may accentuate the severity of spermatogenic defects in men with AZFc deletion. J Med Genet 38,798-802.
14. Jiang MC, Lien YR, Chen SU, Ko TM, Ho HN, Yang YS (1999) Transmission of de novo mutations of the deleted in azoospermia genes from a severely oligozoospermic male to a son via intracytoplasmic sperm injection. Fertil Steril 71,1029-1032.
15. Kamischke A, Gromoll J, Simoni M, Behre HM and Nieschlag E (1999) Transmission of a Y chromosomal deletion involving the deleted in azoospermia (DAZ) and chromodomain (CDY1) genes from father to son through intracytoplasmic sperm injection: Case report. Hum Reprod 14,2320-2322.
16. Kent-First MG, Kol S, Muallem A, Ofir R, Manor D, Blazer S, First N and Itskovitz-Eldor J (1996) The incidence and possible relevance of Y-linked microdeletions in babies born after intracytoplasmic sperm injection and their infertile fathers. Mol Hum Reprod 2,943-950.
17. Kleiman SE, Yogev L, Gamzu R, Hauser R, Botchan A, Paz G, Lessing JB, Yaron Y and Yavetz H (1999) Three-generation evaluation of Y-chromosome microdeletion. J Androl 20,394-398.
18. Kostiner DR, Turek PJ and Reijo RA (1998) Male infertility: analysis of the markers and genes on the human Y chromosome. Hum Reprod 13,3032-3038.
19. Krausz C and McElreavey K (1999) Y chromosome and male infertility. Front Biosci 4,E1-E8.
20. Krausz C, Quintana-Murci L and McElreavey K (2000) Prognostic value of Y deletion analysis: What is the clinical prognostic value of Y chromosome microdeletion analysis? Hum Reprod 15,1431-1434.
21. Krausz C, Forti G and McElreavey K (2003) The Y chromosome and male fertility and infertility. Int J Androl 26,70-75.
22. Kuroda-Kawaguchi T, Skaletsky H, Brown LG, Minx PJ, Cordum HS, Waterston RH, Wilson RK, Silber S, Oates R, Rozen S et al. (2001) The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in infertile men. Nat Genet 29,279-286.
23. Martinez MC, Bernabe MJ, Gomez E, Ballesteros A, Landeras J, Glover G, Gil-Salom M, Remohi J and Pellicer A (2000) Screening for AZF deletion in a large series of severely impaired spermatogenesis patients. J Androl 21,651-655.
24. Mulhall JP, Reijo R, Alagappan R, Brown L, Page D, Carson R and Oates RD (1997) Azoospermic men with deletion of the DAZ gene cluster are capable of completing spermatogenesis: Fertilization, normal embryonic development and pregnancy occur when retrieved testicular spermatozoa are used for intracytoplasmic sperm injection. Hum Reprod 12,503-508.
25. Oates RD, Silber S, Brown LG and Page DC (2002) Clinical characterization of 42 oligospermic or azoospermic men with microdeletion of the AZFc region of the Y chromosome, and of 18 children conceived via ICSI. Hum Reprod 17,2813-2824.
26. Patrat C, Bienvenu T and Jouannet P (2001) Microdélétions du chromosome Y et infertilité masculine. Ref Gynecol Obstet 8,13-20.
27. Patsalis PC, Sismani C, Quintana-Murci L, Taleb-Bekkouche F, Krausz C and McElreavey K (2002) Effects of transmission of Y chromosome AZFc deletions. Lancet 360,1222-1224.
28. Peterlin B, Kunej T, Sinkovec J, Gligorievska N and Zorn B (2002) Screening for Y chromosome microdeletions in 226 Slovenian subfertile men. Hum Reprod 17,17-24.
29. Reijo R, Lee TY, Salo P, Alagappan R, Brown LG, Rosenberg M, Rozen S, Jaffe T, Straus D, Hovatta O et al. (1995) Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene. Nat Genet 10,383-393.
30. Repping S, Skaletsky H, Lange J, Silber S, Van Der Veen F, Oates RD, Page DC and Rozen S (2002) Recombination between palindromes P5 and P1 on the human Y chromosome causes massive deletions and spermatogenic failure. Am J Hum Genet 71,906-922.
31. Saut N, Terriou P, Navarro A, Levy N and Mitchell MJ (2000) The human Y chromosome genes BPY2, CDY1 and DAZ are not essential for sustained fertility. Mol Hum Reprod 6,789-793.
32. Saxena R, de Vries JW, Repping S, Alagappan RK, Skaletsky H, Brown LG, Ma P, Chen E, Hoovers JM and Page DC (2000) Four DAZ genes in two clusters found in the AZFc region of the human Y chromosome. Genomics 67,256-267.
33. Siffroi JP, Le Bourhis C, Krausz C, Barbaux S, Quintana-Murci L, Kanafani S, Rouba H, Bujan L, Bourrouillou G, Seifer I et al. (2000) Sex chromosome mosaicism in males carrying Y chromosome long arm deletions. Hum Reprod 15,2559-2562.
34. Silber SJ, Alagappan R, Brown LG and Page DC (1998) Y chromosome deletions in azoospermic and severely oligozoospermic men undergoing intracytoplasmic sperm injection after testicular sperm extraction. Hum Reprod 13,3332-3337.
35. Simoni M, Gromoll J, Dworniczak B, Rolf C, Abshagen K, Kamischke A, Carani C, Meschede D, Behre HM, Horst J et al. (1997) Screening for deletions of the Y chromosome involving the DAZ (Deleted in AZoospermia) gene in azoospermia and severe oligozoospermia. Fertil Steril 67,542-547.
36. Simoni M, Kamischke A and Nieschlag E (1998) Current status of the molecular diagnosis of Y-chromosomal microdeletions in the work-up of male infertility. Initiative for international quality control. Hum Reprod 13,1764-1768.
37. Simoni M, Bakker E, Eurlings MC, Matthijs G, Moro E, Muller CR and Vogt PH (1999) Laboratory guidelines for molecular diagnosis of Y-chromosomal microdeletions. Int J Androl 22,292-299.
38. Skaletsky H, Kuroda-Kawaguchi T, Minx PJ, Cordum HS, Hillier L, Brown LG, Repping S, Pyntikova T, Ali J, Bieri T et al. (2003) The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes. Nature 423,825-837.
39. Thornhill AR, Guenther AJ, Barbarotto GM, Session DR, Damario MA, Dumesic DA and Snow K (2002) False-positive Y-microdeletion result for a fertile male caused by an alteration under a PCR primer. Int J Androl 25,352-357.
40. Tiepolo L and Zuffardi O (1976) Localization of factors controlling spermatogenesis in the nonfluorescent portion of the human Y chromosome long arm. Hum Genet 34,119-124.
41. Tilford CA, Kuroda-Kawaguchi T, Skaletsky H, Rozen S, Brown LG, Rosenberg M, McPherson JD, Wylie K, Sekhon M, Kucaba TA et al. (2001) A physical map of the human Y chromosome. Nature 409,943-945.
42. Toth A, Tardy EP, Gombos S, Hajdu K, Batorfi J and Krausz C (2001) AZFc deletion detected in a newborn with prenatally diagnosed Yq deletion. Prenat Diagn 21,253-255.
43. vanGolde RJ, Wetzels AM, de Graaf R, Tuerlings JH, Braat DD and Kremer JA (2001) Decreased fertilization rate and embryo quality after ICSI in oligozoospermic men with microdeletions in the azoospermia factor c region of the Y chromosome. Hum Reprod 16,289-292.
44. Vogt PH, Edelmann A, Kirsch S, Henegariu O, Hirschmann P, Kiesewetter F, Kohn FM, Schill WB, Farah S, Ramos C et al. (1996) Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11. Hum Mol Genet 5,933-943.
45. Vollrath D, Foote S, Hilton A, Brown LG, Beer-Romero P, Bogan JS and Page DC (1992) The human Y chromosome: A 43-interval map based on naturally occurring deletions. Science 258,52-59.