Genetic causes of male infertility

Andrologia

Volumn 29, Issue 2, 1997, Pages 63-69

  Wieacker, P ^a   Jakubiczka, S ^a  

^a UNIVERSITY HOSPITAL MAGDEBURG   (Germany)

Author keywords

genetic disorders; male infertility

Indexed keywords

GENETIC DISORDER; HUMAN; MALE; MALE INFERTILITY; REVIEW;

EID: 0030896249     PISSN: 03034569     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1439-0272.1997.tb00465.x     Document Type: Review

References (52)

1. Abbas N, Toublanc J, Boucekkine C, Toublanc M, Affara NA, Job JC, Fellous M (1990) A possible common origin of 'Y negative' human XX males and XX true hermaphrodites. Hum Genet 84:356-360.
2. Adham IM, Klemm U, Maier WM, Engel W (1990) Molecular cloning of human preproacrosin cDNA. Hum Genet 84:125-128.
3. Adham IM, Nayernia K, Engel W (1996) Mice homozygous for disrupted sperm acrosin gene do not exhibit defects in fertility or sperm penetration. Medizinische Genetik 1, abstract S3 10.
4. Afzelius BA (1976) A human syndrome caused by immobile cilia. Science 193:317-319.
5. Aiman J, Griffin JE (1982) The frequency of androgen receptor deficiency in infertile men. J Clin Endocrinol Metab 54:725-732.
6. Akin JW, Bchzadian A, Tho SPT, McDonough PG (1991) Evidence for a partial deletion in the androgen receptor gene in a phenotypic male with azoospermia. Am J Obstet Gynecol 165:1891-1894.
7. Augarten A, Yahav Y, Kerem BS, Halle D, Laufer J, Szeinberg A, Dor J, Mashiach S, Gazit E, Madgar I (1994) Congenital bilateral absence of vas deferens in the absence of cystic fibrosis. Lancet 344:1473-1474.
8. Baba T, Azuma S, Kashiwabara S, Toyoda Y (1994) Sperm from mice carrying a targeted mutation of the acrosin gene can penetrate the oocyte zona pellucida and effect fertilization. J Biol Chem 269:31845-31849.
9. Blendy IA, Kaestner KH, Weinbauer GF, Nieschlag E, Schütz G (1996) Severe impairment of spermatogenesis in mice lacking the CREM gene. Nature 380:162-165.
10. Chandley AC (1979) The chromosomal basis of human infertility. Br Med Bull 35:181-186.
11. Chandley AC (1990) Infertility and recurrent abortion. In: Principles and Practice of Medical Genetics. Emery AE, Rimoin DL (eds) Churchill Livingstone. pp 313-319.
12. Chandley AC, Cooke HJ (1994) Human male fertility - Y-linked genes and spermatogenesis. Hum Mol Genet 3:1449-1552.
13. Chang C, Kokontis J, Liao S (1988) Structural analysis of complementary DNA and amino acid sequences of human and rat androgen receptors. Proc Nat Acad Sci USA 85:7211-7215.
14. Chillon M, Casals T, Mercier B et al. (1995) Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens. New Engl J Med 332:1475-1480.
15. Cooke HJ, Lee M, Kerr S, Ruggiu M (1990) A murine homologue of the human DAZ gene is autosomal and expressed only in male and female gonads. Hum Mol Genet 5:513-516.
16. Dubin L, Amelar RD (1971) Etiologic factors in 1294 consecutive cases of male infertility. Fertil Steril 22:409-474.
17. Edwards JA, Bannerman RM (1971) Familial gynecomastia. Birth Defects 7:193-195.
18. Flörke-Gerloff S, Töpfer-Petersen S, Muller-Esterl W, Schill WB, Engel W (1983) Acrosin and the acrosome in human spermatogenesis. Hum Genet 65:61-67.
19. Flörke-Gerloff S, Töpfer-Petersen E, Muller-Esterl W, Mansouri A, Schatz R, Schirren C, Schill W, Engel W (1984) Biochemical and genetic investigation of round-headed spermatozoa in infertile men including two brothers and their father. Andrologia 16:187-202.
20. Franco B, Guioli S, Pragliola A, Incerti B, Bardoni B, Tonlorenzi R, Carrozo R, Maestrini E, Pieretti M, Taillon-Miller P, Brown CJ, Willard HF, Lawrence C, Pcrsico MG, Camerino G, Ballabio A (1991) A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules. Nature 353:529.
21. Friedman K, Teichtal H, Robinson J (1993) Screening Young's syndrome patients for CFTR mutations. Pediat Pulmonol 15 (Suppl. 9):abstract 125.
22. Goitlieb B, Trifiro M, Lumbroso R, Vasiliou DM, Pinsky L (1996) The androgen receptor gene mutations database, Nucleic Acids Res 24:151-154.
23. Handelin B, Witt D, Skoletzky J, Shuber A (1992) Unexpected prevalence of R117H and G551D CF mutations in a randomly screened population. Am J Hum Genet 51 (Suppl. 4):abstract 858.
24. Hardelin JP, Levilliers J, Blanchard S, Carel JC, Leutenegger M, Pinard-Bertelletto JP, Bouloux P, Petit C (1993) Heterogeneity in the mutations responsible for X chromosome-linked Kallmann syndrome. Hum Mol Genet 2:373.
25. Heaton ND, Pryor JP (1990) Vasa aplasia in cystic fibrosis. Br J Urol 66:538-540.
26. Hirsh A, Williams C, Williamson R (1993) Young's syndrome and cystic fibrosis mutation deltaF508. Lancet 342:118.
27. Jakubiczka S, Schürmeyer TH, Nedel, S, Wieacker P. (1994) Screening for mutations in the androgen receptor gene in infertile males. Medizinische Genetik 1, abstract p 5-16.
28. Jakubiczka S, Nedel S, Werder EA, Schleiermacher E, Theile U, Wolff G, Wieacker P (1997) Mutations of the androgen receptor gene in patients with complete androgen insensitivity. Hum Mutat 9: 57-61.
29. Jamieson CR, van der Burgt I, Brady AF, van Reen M, Elsawi MM, Hol F, Jeffery S, Patton MA, Mariman E (1994) Mapping a gene for Noonan syndrome to the long arm of chromosome 12. Nature Genet 8:357-360.
30. Johannisson R, Löhrs U, Wolff HH, Schwinger E (1987) Two different XY-quadrivalent associations and impairment of infertility in men. Cytogenet Cell Genet 45:222-230.
31. La Spada AR, Wilson EM, Lubahn DB, Harding AE, Fischbeck KH (1991) Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature 352:77-79.
32. Legouis R, Hardelin JP, Levilliers J, Claverie JM, Compain S, Wunderle V, Millasseau P, Le Paslier D, Cohen D, Caterina D, Bougueleret L, Delemarre-Van de Waal H, Lutfalla G, Weissenbach J, Petit C (1991) The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules. Cell 67:423.
33. Lubahn DB, Brown TR, Simental JA, Higgs HN, Migeon CJ, Wilson EM, French FS (1989) Sequence of the intron/exon junctions of the coding region of the human androgen receptor gene and identification of a point mutation in a family with complete androgen insensitivity. Proc Nat Acad Sci USA 86:9534-9538.
34. Ma K, Inglis JD, Sharkey A, Bickmore WA, Hill RE, Prosser EJ, Speed RM, Thomson EJ, Jobling M, Taylor K, Wolfe J, Cooke HJ, Hargreave TB, Chandley AC (1993) A Y chromosome gene family with RNA-binding protein homology: candidates for the azoospermia factor AZF controlling human spermatogenesis. Cell 75:1287-1295.
35. Mickle J, Oates R, Colin A, Maher TA, Milunsky A, Amos JA (1993) Increased frequency of cystic fibrosis mutations in males with unilateral absence of the vas deferens (UAVD). Am J Hum Genet 53 (Suppl. 3):abstract 1204.
36. Mosher WD, Pratl WF (1990) Fecundity and infertility in the United States, 1965 1988. Advanced data from Vital and Health Statistics. Hyattsville: National Center for Health Statistics.
37. Müller U (1993) The human Y chromosome. In: Molecular genetics of sex determination. Wachtel SS (ed) Academic Press, pp 205-224.
38. Nantel F, Monaco L, Foulkes NS, Masquillier D, LeMeur M, Henriksen K, Dierich A, Parvineu M, Sassone-Corsi P (1996) Spermiogenesis deficiency and germ cell apoptosis in CREM-mutant mice. Nature 380:159-162.
39. Reijo R, Lee TY, Alagappan R, Brown LG, Rosenberg M, Rozen S, Jaffe T, Straus D, Hovatta O, De la Chapelle A, Silber S, Page DC (1995) Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene. Nature Genet 10:383-392.
40. Schoysman R, Gerris J (1983) Twelve-year follow-up: study of pregnancy rates in 1921 couples with idiopathically impaired male fertility. Acta Europ Fertil 14:51-55.
41. Silber SJ (1989) The relationship of abnormal semen parameters to male fertility. Hum Reprod 4:947-953.
42. Skakkebaek N, Giwercman A, de Kretser D (1994) Pathogenesis and management of male infertility. Lancet 343:1473-1479.
43. Templeton A, Fraser C, Thompson B (1990) The epidemiology of infertility in Aberdeen. Br Med J 301:148-152.
44. Tiepolo L, Zuffardi O (1976) Localization of factors controlling spermatogenesis in the non fluorescent portion of the human Y chromosome long arm. Hum Genet 34:119-124.
45. Tiepolo L, Zuffardi O, Fraccaro M, Giarola A (1981) Chromosome abnormalities and male infertility. In: Oligospermia: Recent Progress in Andrology. Frajese G, Hafez ESE, Conti C, Fabbrini A (eds) Raven Press, New York, pp. 233-245.
46. Tilley WD, Marcelli M, Wilson JD, McPhaul MJ (1989) Characterization and expression of a cDNA encoding the human androgen receptor. Proc Nat Acad Sci USA 86:327-331.
47. Trapman J, Klaassen P, Kuiper GGJM, Van der Korpurt JAGM, Faber PW, Van Rooij HCJ, Van Kessel AG, Voorhorst MM, Mulder E, Brinkmann AO (1988) Cloning, structure and expression of a cDNA encoding the human androgen receptor. Biochem Biophys Res Commun 153:241-248.
48. Van der Ven K, Rahman A, Van der Ven H, Heilman S, Jeyendran RS, Ober C (1993) CFTR mutations in men with impaired sperm function (ISF) and azoospermia without congenital absence of the vas deferens (CBAVD). Am J Hum Genet 51 (Suppl. 31):abstract 1246.
49. Vegni-Talluri M, Menchini-Fabris F, Renieri T (1977) A possible haploid effect in acrosome malformations of human spermatozoa. Andrologia 9:315-322.
50. Vogt P, Chandley AC, Hargreave TB, Keil R, Ma K, Sharkey A (1992) Microdeletions in interval 6 of the Y chromosome of males with idiopathic sterility point to disruption of AZF, a spermatogenesis gene. Hum Genet 89:491-496.
51. Wieacker P, Griffin JE, Wienker T, Lopez JM, Wilson JD, Breckwoldt M (1987) Linkage analysis with RFLPs in families with androgen resistance syndromes: evidence for close linkage between the androgen receptor locus and the DXS1 segment. Hum Genet 76:248-252.
52. Yong EL, Ng SC, Roy AC, Yun G, Ratman SS (1994) Pregnancy after hormonal correction of severe spermatogenic defect due to mutation in androgen receptor gene. Lancet 344:826-827.