Men with infertility caused by AZFc deletion can produce sons by intracytoplasmic sperm injection, but are likely to transmit the deletion and infertility

Human Reproduction

Volumn 14, Issue 7, 1999, Pages 1722-1726

  C page, David ^a   Silber, Sherman ^b   G brown, Laura ^a  

^a HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^b ST LUKE S HOSPITAL   (United States)

Author keywords

AZFc; Chromosome deletions; ICSI; PCR

Indexed keywords

ADULT; ARTICLE; AZOOSPERMIA; CASE REPORT; CHROMOSOME DELETION Y; HUMAN; INTRACYTOPLASMIC SPERM INJECTION; MALE; MALE INFERTILITY; NEWBORN; OLIGOSPERMIA; POLYMERASE CHAIN REACTION; PROGENY;

EID: 0032784089     PISSN: 02681161     EISSN: None     Source Type: Journal    
DOI: 10.1093/humrep/14.7.1722     Document Type: Article

References (37)

1. Agulnik, A.I., Mitchell, M J., Lerner, J.L. et al. (1994) A mouse Y chromosome gene encoded by a region essential for spermatogenesis and expression of male-specific minor histocompatibility antigens. Hum. Mol. Genet., 3, 873-878.
2. Bhasin, S., de Kretser, D.M. and Baker, H.W.G. (1994) Pathophysiology and natural history of male infertility. J. Clin. Endocrinol. Metab., 79, 1525-1529.
3. Bonduelle, M., Aytoz, A., Van Assche, E. et al. (1998) Prospective follow-up study of 1,987 chilidren born after intracytoplasmic sperm injection (ICSI). Treatment of infertility: The new frontiers. Communications Media for Education., pp. 445-461.
4. de Kretser, D.M. (1997) Male infertility. Lancet, 3-49, 787-790.
5. Edwards, R.B. and Bishop, C.E. (1997) On the origin and frequency of Y chromosome deletions responsible for severe male infertility. Mol. Hum. Reprod., 3, 549-554.
6. Engel, W., Murphy, D. and Schmid, M. (1996) Are there genetic risks associated with microassisted reproduction? Hum. Reprod., 11, 2359-2370.
7. Foote, S., Vollrath, D., Hilton, A. and Page, D.C. (1992) The human Y chromosome: Overlapping DNA clones spanning the euchromatic region. Science, 258, 60-66.
8. Foresta, C, Ferlin, A., Garolla, A. et al. (1997) Y-chromosome deletions in idiopathic severe testiculopathies. J. Clin. Endocrinol. Metab., 82, 1075-1080.
9. Girardi, S.K., Mielnik, A. and Schlegel, P.N. (1997) Submicroscopic deletions in the Y chromosome of infertile men. Hum. Reprod., 12, 1635-1641.
10. Goldmuntz, E. and Emanuel, B.S. (1997) Genetic disorders of cardiac morphogenesis: The DiGeorge and velocardiofacial syndromes. Circ. Res., 80, 437-443.
11. Huffman, J.I.E. (1995) Incidence of congenital heart disease: I. Postnatal incidence. Pediatr. Cardiol., 16, 103-113.
12. Kent-First, M.G., Kol, S., Muallem, A. et al. (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.
13. Kremer, J.A., Tuerlings, J.H., Meuleman, E.J. el al. (1997) Microdeletions of the Y chromosome and intracytoplasmic sperm injection: From gene to clinic. Hum. Reprod., 12, 687-691.
14. Kremer, J.A.M., Tuerlings, J.H.A.M., Borm, G. et al. (1998) Does intracytoplasmic sperm injection lead to a rise in the frequency of microdeletions in the AZFc region of the Y chromosome in future generations? Hum. Reprod., 13, 2808-2811.
15. Kupker, W., Tarlatzis, B. and Diedrich, K. (1997) Pregnancy outcome after assisted fertilization-a short survey. Int. J. Androl., 20 (Suppl. 3), 65-68.
16. Lahn, B.T. and Page, D.C. (1997) Functional coherence of the human Y chromosome. Science, 278, 675-680.
17. Ma, K., Inglis, J.D., Sharkey, A., et al. (1993) A Y chromosome gene family with RNA-binding protein homology: Candidates for the azoospermia factor AZF controlling human spermatogenesis. Cell, 75, 1287-1295.
18. Morris, R.S. and Gleicher, N. (I996) Genetic abnormalities, male infertility, and ICSI. Lancet, 347, 1277.
19. Mulhall, J.P., Reijo, R., Alagappan, R. et al. (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.
20. Najmabadi, H., Huang, V., Yen, P. et al. (1996) Substantial prevalence of microdeletions of the Y-chromosome in infertile men with idiopathic azoospermia and oligozoospermia detected using a sequence-tagged sitebased mapping strategy. J. Clin. Endocrinol. Metab., 81, 1347-1352.
21. Nakahori, Y, Kuroki, Y, Komaki, R. et al. (1996) The Y chromosome region essential for spermatogenesis. Harm. Res., 46 (Suppl. 1), 20-23.
22. Palermo, G., Joris, H., Devroey, P. and Van Steirteghem, A.C. (1992) Pregnancies after intracytoplasmic injection of single spermatozoon into an oocyte. Lancet, 340, 17-18.
23. Pryor, J.L., Kent-First, M., Muallem, A. et al. (1997) Microdeletions in the Y chromosome of infertile men. N. Engl. J. Med., 336, 534-539.
24. Qureshi, S.J., Ross, A.R., Ma, K. et al. (1996) Polymerase chain reaction screening for Y chromosome microdeletions: A first step towards the diagnosis of genetically-determined spermatogenic failure in men. Mol. Hum. Reprod., 2, 775-779.
25. Reijo, R., Alagappan, R.K., Patrizio, P. and Page, D.C. (1996) Severe oligozoospermia resulting from deletions of azoospermia factor gene on Y chromosome. Lancet, 347, 1290-1293.
26. Reijo, R., Lee, T.Y., Salo, P. et al. (1995) Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene. Nature Genet., 10, 383-393.
27. Schiebel, K., Winkelmann, M., Mertz, A. et al. (1997) Abnormal XY interchange between a novel isolated protein kinase gene, PRKY, and its homologue, PRKX, accounts for one third of all (Y+)XX males and (Y-)XY females. Hum. Mol. Genet., 6, 1985-1989.
28. Silber, S.J., Alagappan, R., Brown, L.G. and Page, D.C. (1998) Y chromosome deletions in azoospermic and severely oligozoospermic men undergoing intracytoplasmic sperm injection after testicular sperm extraction. Hum. Reprod., 13, 3332-3337.
29. Silber, S.J., Nagy, Z., Liu, J., et al. (1995) The use of epididymal and testicular spermatozoa for intracytoplasmic sperm injection: The genetic implications for male infertility. Hum. Reprod., 10, 2031-2043.
30. Simoni, M., Gromoll, J., Dworniczak, B. 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.
31. Sinclair, A.H., Berta, P., Palmer, M.S. et al. (1990) A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif. Nature, 346, 240-244.
32. Tarlatzis, B.C. and Bili, H. (1998) Survey on intracytoplasmic sperm injection: Report from the ESHRE ICSI Task Force. Hum. Reprod., 13 (Suppl. 1), 165-177.
33. van der Yen, K., Montag, M., Peschka, B. et al. (1997) Combined cytogenetic and Y chromosome microdeletion screening in males undergoing intracytoplasmic sperm injection. Mol. Hum. Reprod., 3, 699-704.
34. Vereb, M., Agulnik, A.I., Houston, J.T. et al. (1997) Absence of DAZ gene mutations in cases of non-obstructed azoospermia. Mol. Hum. Reprod., 3, 55-59.
35. Vogt, PH., Affara, N., Davey, P. et al. (1997) Report of the Third International Workshop on Y Chromosome Mapping 1997. Cytogenet. Cell, Genet., 79, 1-20.
36. Vogt, PH., Edelmann, A., Kirsch, S. et al. (1996) Human Y chromosome azoospermia factors (AZF) mapped to different subrogions in Yqll. Hum. Mol. Genet., 5, 933-943.
37. Vollrath, D., Foote, S., Hilton, A. et al. (1992) The human Y chromosome: A 43-interval map based on naturally occurring deletions. Science, 258, 52-59.