Androgen insensitivity and male infertility

International Journal of Andrology

Volumn 26, Issue 1, 2003, Pages 16-20

  Hiort, Olaf ^a   Holterhus, P M ^b  

^a UNIVERSITY HOSPITAL SCHLESWIG HOLSTEIN   (Germany)

^b NONE

Author keywords

Androgen action; Androgen insensitivity; Androgen receptor; Male infertility; Spermatogenesis

Indexed keywords

ANDROGEN; ANDROGEN RECEPTOR;

ANDROGEN INSENSITIVITY SYNDROME; GENETIC TRANSCRIPTION; HUMAN; MALE; MALE INFERTILITY; MUTATION; PRIORITY JOURNAL; REGULATORY MECHANISM; REVIEW; SPERMATOGENESIS; SPERMATOZOON COUNT;

ANDROGEN-INSENSITIVITY SYNDROME; ANDROGENS; HUMANS; INFERTILITY, MALE; MALE; RECEPTORS, ANDROGEN;

EID: 0037242193     PISSN: 01056263     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2605.2003.00369.x     Document Type: Review

References (34)

1. Aiman, J., Griffin, J. E., Gazar, J. M., Wilson, J. D. & MacDonald, P. C. (1979) Androgen insensitivity as a cause of infertility in otherwise normal men. New England Journal of Medicine 300, 223-227.
2. Akin, J. W., Behzadian, A., Tho, S. P. T. & McDonough, P. G. (1991) Evidence for a partial deletion in the androgen receptor gene in a phenotypic male with azoospermia. American Journal of Obstetrics and Gynecology 165, 1891-1894.
3. Blok, L. J., Mackenbach, P., Trapman J., Themmen, A. P. N., Brinkmann, A. O. & Grootegoed, J. A. (1989) Follicle-stimulating hormone regulates androgen receptor mRNA in sertoli cells. Molecular and Cellular Endocrinology 63, 267-271.
4. Boehmer, A. L., Brinkmann, A. O., Nijman, R. M., Verleun-Mooijman, M. C., de Ruiter, P., Niermeijer, M. F. & Drop, S. L. (2001) Phenotypic variation in a family with partial androgen insensitivity syndrome explained by differences in 5alpha dihydrotestosterone availability. Journal of Clinical Endocrinology and Metabolism 86, 1240-1246.
5. Brinkmann, A. O., Faber, P. W., Van Rooij, H. C. J., Kuiper, G. G. J. M., Ris, C., Klaasen, P. et al. (1989) The human androgen receptor: domain structure, genomic organization and regulation of expression. Journal of Steroid Biochemistry 34, 307-310.
6. Chu, J., Zhang, R., Zhao, Z., Zou, W., Han, Y., Qi, Q. et al. (2002) Male fertility is compatible with an Arg840Cys substitution in the AR in a large chinese family affected with devergent phenotypes of AR insensitivity syndrome. Journal of Clinical Endocrinology and Metabolism 87, 347-351.
7. Dazde, S., Wieland, C., Jakubiczka, S., Funke, K., Schroder, E., Royer-Pokora, B., Willers, R. & Wieacker, P. F. (2000) The size of the CAG repeat in exon 1 of the androgen receptor gene shows no significant relationship to impaired spermatogenesis in an infertile caucasoid sample of German origin. Molecular Human Reproduction 6, 207-214.
8. Dowsing, A. T., Yong, E. L., Clark, M., McLachlan, R. I., de Kretser, D. M. & Trounson, A. O. (1999) Linkage between male infertility and trinucleotide repeat expansion in the androgen-receptor gene. Lancet 354, 640-643.
9. Edwards, A., Hammond, H. A., Jin, L., Caskey, C. T. & Chakraborty, R. (1992) Genetic variation at five trimeric and tetrameric tandem repear loci in four human population groups. Genomics 12, 214-252.
10. Giwercman, A., Kledal, T., Schwartz, M., Giwercman, Y. L., Leffers, H., Zazzi, H., Wedell, A. & Skakkebaek, N. E. (2000) Preserved male fertility despite decreased androgen sensitivity caused by a mutation in the ligand-binding domain of the androgen receptor gene. Journal of Clinical Endocrinology and Metabolism 85, 2253-2259.
11. Giwercman, Y. L., Nikoshkov, A., Bystrom, B., Pousette, A., Arver, S. & Wedell, A. (2001) A novel mutation (N233K) in the transactivating domain and the N756S mutation in the ligand binding domain of the androgen receptor gene are associated with male infertility. Clinical Endocrinology (Oxford) 54, 827-834.
12. Giwercman, Y. L., Xu, C., Arver, S., Pousette, A. & Reneland, R. (1998) No association between the androgen receptor gene CAG repeat and impaired sperm production in Swedish men. Clinical Genetics 54, 435-436.
13. Hiort, O., Holterhus, P. M. & Nitsche, E. M. (1998a) Physiology and pathophysiology of androgen action. Baillierès Clinical Endocrinology and Metabolism 12/1, 115-132.
14. Hiort, O., Sinnecker, G. H. G., Holterhus, P. M., Nitsche, E. M. & Kruse, K. (1998b) Inherited and de novo androgen receptor gene mutations: investigation of single-case families. Journal of Pediatrics 131, 939-943.
15. Hiort, O., Horter, T., Schulze, W., Kremke, B. & Sinnecker, G. H. G. (1999) Male infertility and increased risk of diseases in future generations. Lancet 354, 1907-1908.
16. Hiort, O., Holterhus, P. M., Horter, T., Schulze, W., Kremke, B., Bals-Pratsch, M., Sinnecker, G. H. G. & Kruse, K. (2000) Significance of mutations in the androgen receptor gene in males with idiopathic infertility. Journal of Clinical Endocrinology and Metabolism 85, 2810-2815.
17. Holterhus, P. M., Sinnecker, G. H. G. & Hiort, O. (2000) Phenotypic diversity and testosterone-induced normalization of mutant L712F androgen receptor function in a kindred with androgen insensitivity. Journal of Clinical Endocrinology and Metabolism 85, 3245-3250.
18. Holterhus, P. M., Wiebel, J., Sinnecker, G. H. G., Brüggenwirth, H.A. T., Sippell, W. G., Brinkmann, A. O., Kruse, K. & Hiort, O. (1999) Clinical and molecular spectrum of somatic mosaicism in androgen insensitivity syndrome. Pediatric Research 46, 684-690.
19. Ivarsson, S. A. (1996) 5α-reductase deficient men are fertile. European Journal of Pediatrics 155, 425.
20. Jaursch-Hanke, C. & Hiort, O. (2002) Normal virilized male with partial androgen insensitivity (PAIs) - case report. Exp Clin Endocrinol Diabetes 110, 530.
21. Küpker, W., Schwinger, E., Hiort, O., Ludwig, M., Nikolettos, N., Schlegel, P. & Diedrich, K. (1999) Genetics of male subfertility: consequences for the clinical work-up. Human Reproduction 14 (Suppl. 1), 24-37.
22. La Spada, A. R., Wilson, E. M., Lubahn, D. B., Harding, A. E. & Fischbeck, K. H. (1991) Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature 352, 77-79.
23. Marshall, G. R., Wickings, E. J. & Nieschlag, E. (1984) Testosterone can initiate spermatogenesis in an immature nonhuman primate, Macaca fascicularis. Endocrinology 114, 2228-2233.
24. Nordenskjöld, A. & Soderhall, S. (1998) An androgen receptor gene mutation (A645D) in a boy with a normal phenotype. Human Mutation 11, 339.
25. Pinsky, L., Trifiro, M., Kaufman, M., Beitel, L. K., Mhatre, A., Kazemi-Esfarjani, P., Sabbaghian, N., Lumbroso, R., Alvarado, C. & Vasiliou, M. (1992) Androgen resistance due to mutation of the androgen receptor. Clinical Investigation Medicine 15, 456-472.
26. Shkolny, D. L., Beitel, L. K., Ginsberg, J., Pekeles, G., Arbour, L., Pinsky, L. & Trifiro, M. A. (1999) Discordant measures of androgen-binding kinetics in two mutant androgen receptors causing mild or partial androgen insensitivity, respectively. Journal of Clinical Endocrinology and Metabolism 84, 805-810.
27. Suarez-Quian, C. A., Martinez-Garcia, F., Nistal, M. & Regadera, J. (1999) Androgen receptor distribution in adults human. Journal of Clinical Endocrinology and Metabolism 84, 350-358.
28. Sutherland, R. W., Wiener, J. S., Hicks, J. P., Marcelli, M., Gonzales, E. T. Jr, Roth, D. R. & Lamb, D. J. (1996) Androgen receptor gene mutations are rarely associated with isolated penile hypospadias. Journal of Urology 156, 828-831.
29. Tsukada, T., Inoue, M., Tachibana, S., Nakai, Y. & Takebe, H. (1994) An androgen receptor mutation causing androgen resistance in undervirilized male syndrome. Journal of Clinical Endocrinology and Metabolism 79, 1202-1207.
30. Tut, T. G., Ghadessy, F. J., Trifiro, M. A., Pinsky, L. & Yong, E. L. (1997) Long polyglutamine tracts in the androgen receptor are associated with reduced transactivation, impaired sperm production, and male infertility. Journal of Clinical Endocrinology and Metabolism 82, 3777-3782.
31. Von Eckardstein, S., Syska, A., Gromoll, J., Kamischke, A., Simoni, M. & Nieschlag, E. (2001) Inverse correlation between sperm concentration and number of androgen receptor CAG repeats in normal men. Journal of Clinical Endocrinology and Metabolism 85, 2585-2590.
32. Wang, Q., Ghadessy, F. J. & Yong, E. L. (1998) Analysis of the transactivation domain of the androgen receptor in patients with male infertility. Clinical Genetics 54, 185-192.
33. Weinbauer, G. F. & Nieschlag, E. (1990) The role of testosterone in spermatogenesis. In: Testosterone: Action, Deficiency and Substitution (eds E. Nieschlag & H. M. Behre), pp. 23-50. Springer, Berlin, Heidelberg.
34. Yong, E. L., Ng, S. C., Roy, A. C., Yun, G. & Ratman, S. S. (1994) Pregnancy after hormonal correction of severe spermatogenetic defect due to mutation in androgen receptor gene. Lancet 344, 826-827.