Androgen receptor gene mutations are rarely associated with isolated penile hypospadias

Journal of Urology

Volumn 156, Issue 2 SUPPL. 1, 1996, Pages 828-831

  Sutherland, Richard W ^a   Wiener, John S ^a   Hicks, Joseph P ^a   Marcelli, Marco ^a   Gonzales Jr , Edmond T ^a   Roth, David R ^a   Lamb, Dolores J ^a,b  

^a TEXAS CHILDREN S HOSPITAL   (United States)

^b Lab for Male Repro Res and Test   (United States)

Author keywords

Base sequence; Hypospadias; Receptors, androgen

Indexed keywords

ANDROGEN RECEPTOR;

ARTICLE; CHILD; GENETICS; HUMAN; HYPOSPADIAS; MALE; MUTATION; NUCLEOTIDE SEQUENCE;

CHILD; DNA MUTATIONAL ANALYSIS; HUMANS; HYPOSPADIAS; MALE; MUTATION; RECEPTORS, ANDROGEN;

EID: 0030213386     PISSN: 00225347     EISSN: None     Source Type: Journal    
DOI: 10.1016/s0022-5347(01)65830-0     Document Type: Article

References (21)

1. Belman, A. B.: Hypospadias and other urethral abnormalities. In: Clinical Pediatric Urology, 3rd ed. Edited by P. P. Kelalis, L. R. King and A. B. Belman. Philadelphia: W. B. Saunders Co., vol. 1, chapt. 15, pp. 619-663, 1992.
2. Bauer, S. B., Retik, A. B. and Colodny, A. H.: Genetic aspects of hypospadias. Urol. Clin. N. Amer., 8: 559, 1981.
3. Keenan, B. S., McNeel, R. L. and Gonzales, E. T.: Abnormality of intracellular 5-alpha-dihydrotestosterone binding in simple hypospadias: studies on equilibrium steroid binding in sonicates of genital skin fibroblasts. Ped. Res., 18: 216, 1984.
4. Svensson, J. and Snochowski, M.: Androgen receptor levels in preputial skin from boys with hypospadias. J. Clin. Endocr. Metab., 49: 340, 1979.
5. 3H]dihydrotestosterone in cultured genital skin fibroblasts of patients with severe hypospadias. J. Clin. Invest., 83: 662, 1989.
6. Gearhart, J. P., Linhard, H. R., Berkovitz, G. D., Jeffs, R. D. and Brown, T. R.: Androgen receptor levels and 5α-reductase activities in preputial skin and chordee tissue of boys with isolated hypospadias. J. Urol., part 2, 140: 1243, 1988.
7. Terakawa, T., Shima, H., Yabumoto, H., Koyama, K. and Ikoma, F.: Androgen receptor levels in patients with isolated hypospadias. Acta Endocr., 123: 24, 1990.
8. Lubahn, D. B., Joseph, D. R., Sullivan, P. M., Willard, H. F., French, F. S. and Wilson, E. M.: Cloning of human androgen receptor complementary DNA and localization to the X chromosome. Science, 240: 327, 1988.
9. Chang, C. S., Kokontis, J. and Liao, S. T.: Molecular cloning of human and rat complementary DNA encoding androgen receptors. Science, 240: 324, 1988.
10. McPhaul, M. J., Marcelli, M., Zoppi, S., Griffin, J. E. and Wilson, J. D.: Genetic basis of endocrine disease 4: the spectrum of mutations in the androgen receptor gene that causes androgen resistance. J. Clin. Endocr. Metab., 76: 17, 1993.
11. Batch, J. A., Evans, B. A. J., Hughes, I. A. and Patterson, M. N.: Mutations of the androgen receptor gene identified in perineal hypospadias. J. Med. Genet., 30: 198, 1993.
12. Kaspar, F., Cato, A. C. B., Denninger, A., Eberle, J., Radmayr, C., Glatzl, J., Bartsch, G. and Klocker, H.: Characterization of two point mutations in the androgen receptor gene of patients with perineoscrotal hypospadia. J. Steroid Biochem. Molec. Biol., 47: 127, 1993.
13. Hiort, O., Klauber, G., Cendron, M., Sinnecker, G. H. C., Keim, L., Schwinger, E., Wolfe, H. J. and Yandell, D. W.: Molecular characterization of the androgen receptor gene in boys with hypospadias. Eur. J. Ped., 153: 317, 1994.
14. Allera, A., Herbst, M. A., Griffin, J. E., Wilson, J. D., Schweikert, H.-U. and McPhaul, M. J.: Mutations of the androgen receptor coding sequence are infrequent in patients with isolated hypospadias. J. Clin. Endocr. Metab., 80: 2697, 1995.
15. Marcelli, M., Tilley, W. D., Wilson, C. D., Griffin, J. E., Wilson, J. D. and McPhaul, M. J.: Definition of the human androgen receptor gene structure permits the identification of mutations that cause androgen resistance: premature termination of the receptor protein at amino acid residue 588 causes complete androgen resistance. Molec. Endocr., 4: 1105, 1990.
16. Tilley, W. D., Marcelli, M., Wilson, J. D. and McPhaul, M. J.: Characterization and expression of a cDNA encoding the human androgen receptor. Proc. Natl. Acad. Sci., 86: 327, 1989.
17. Quigley, C. A., De Bellis, A., Marschke, K. B., El-Awady, M. K., Wilson, E. M. and French, F. S.: Androgen receptor defects: historical, clinical, and molecular perspectives. Endocrin Rev., 15: 271, 1995.
18. Aiman, J., Griffin, J. E., Gazak, J. M., Wilson, J. D. and MacDonald, P. C.: Androgen insensitivity as a cause of infertility in otherwise normal men. New Engl. J. Med., 300: 223, 1979.
19. Grino, P. B., Griffin, J. E., Cushard, W. G. and Wilson, J. D.: A mutation of the androgen receptor associated with partial androgen resistance, familial gynecomastia, and fertility. J. Clin. Endocr. Metab., 66: 754, 1988.
20. Hatch, J. A., Davies, H. R., Evans, B. A. J., Hughes, I. A. and Patterson, M. N.: Phenotypic variation and detection of carrier status in the partial androgen insensitivity syndrome. Arch. Dis. Ped., 68: 453, 1993.
21. Migeon, B. R., Brown, T. R., Axelman, J. and Migeon, C. J.: Studies of the locus for the androgen receptor: localization on the human X chromosome and evidence for homology with the Tfm locus in the mouse. Proc. Natl. Acad. Sci., 78: 6339, 1981.