Androgen Resistance in Man

  • William J. Kovacs
  • James E. Griffin
  • Jean D. Wilson
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 196)


Androgens act at their target tissues to promote development of the male phenotype during sexual differentiation, to induce sexual maturation at puberty, to initiate and maintain spermatogenesis, and to maintain secondary sexual characteristics during adult life. By feedback on the hypothalamic-pituitary system androgens also function in the regulation of their own secretion by effects on gonadotropin secretion.


Androgen Receptor Androgen Action Wolffian Duct Androgen Receptor Protein Mullerian Duct 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


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  1. 1.
    L. Wilkins, Abnormal sex differentiation: hermaphroditism and gonadal dysgenesis. In: The Diagnosis and Treatment of Endocrine Disorders in Childhood Adolescence, 2nd ed. Charles C. Thomas, Springfield, IL p. 258 (1957).Google Scholar
  2. 2.
    J. E. Griffin, J. D. Wilson, The syndromes of androgen resistance. N. Engl. J. Med. 302: 198 (1980).PubMedCrossRefGoogle Scholar
  3. 3.
    R. Buttyan, C. A. Olsson, B. Sheard, J. Kallos, Steroid receptor-nuclear matrix interactions: The role of DNA. J. Biol. Chem. 258: 14366 (1983).PubMedGoogle Scholar
  4. 4.
    L. Klyzsejko-Stefanowicz, J-F Chiu, Y. H. Tsai, L. Hnilica, Acceptor proteins in rat androgenic tissue chromatin. Proc. Natl. Acad. Sci. USA 73: 1954 (1976).PubMedCrossRefGoogle Scholar
  5. 5.
    E. Barrack, The nuclear matrix of the prostate contains acceptor sites for androgen receptors. Endocrinology 113: 430 (1983).PubMedCrossRefGoogle Scholar
  6. 6.
    J. D. Wilson, J. E. Griffin, M. Leshin, P. C. MacDonald, The androgen resistance syndromes: 5urreductase deficiency, testicular feminization, and related disorders. In: Stanbury JB, Wyngaarden JB, Goldstein JL, Brown MS, Fredrickson DS (eds) Metabolic Basis of Inherited Disease.McGraw-Hill, New York, p. 1001 (1983).Google Scholar
  7. 7.
    W. J. Kovacs, J. E. Griffin, D. D. Weaver, B. R. Carlson, J. D. Wilson, A mutation that causes lability of the androgen receptor under conditions that normally promote transformation to the DNA-binding state. J. Clin. Invest. 73: 1095 (1984).PubMedCrossRefGoogle Scholar
  8. 8.
    J. Aiman, J. E. Griffin, J. M. Gazak, J. D. Wilson, P. C. MacDonald, Androgen insensitivity as a cause of inferility in otherwise normal men. N. Engl. J. Med. 300: 223 (1979).PubMedCrossRefGoogle Scholar
  9. 9.
    B. S. Keenan, W. J. Meyer, III, A. J. Hadjian, H. W. Jones, C. J. Migeon, Syndrome of androgen insensitivity in man: absence of 5 a-dihydrotestosterone binding protein in skin fibroblasts. J. Clin. Endocrinol. Metab. 38: 1143 (1974).PubMedCrossRefGoogle Scholar
  10. 10.
    J. E. Griffin, K. Punyashthiti, J. D. Wilson, Dihydrotestosterone binding by cultured human fibroblasts: Comparison of cells from control subjects and from patients with hereditary male pseudohermaphroditism due to androgen resistance. J. Clin. Invest. 57: 1342 (1976).PubMedCrossRefGoogle Scholar
  11. 11.
    C. Eil, M. E. Lippman, D.L. Loriaux, A dispersed-whole cell method for the determination of androgen receptors in human skin fibroblasts. Steroids 35: 389 (1980).PubMedCrossRefGoogle Scholar
  12. 12.
    J. E. Griffin, Testicular feminization associated with a thermolabile androgen receptor in cultured human fibroblasts. J. Clin. Invest. 64: 1624 (1979).PubMedCrossRefGoogle Scholar
  13. 13.
    J. E. Griffin, J. L. Durrant, Qualitative receptor defects in families with androgen resistance: Failure of stabilization of the fibroblast cytosol androgen receptor. J. Clin. Endocrinol. Metab. 55: 465 (1982).PubMedCrossRefGoogle Scholar
  14. 14.
    T. R. Brown, M. Macs, S. W. Rothwell, C. J. Migeon, Human complete androgen insensitivity with normal dihydrotestosterone-receptor binding capcity in cultured genital skin fibroblasts: Evidence of a qualitative abnormality of the receptor. J. Clin. Endocrinol. Metab. 55: 61 (1982).PubMedCrossRefGoogle Scholar
  15. 15.
    M. Kaufman, L. Pinsky, L. Simard, S. C. Wong, Defective activation of androgen-receptor complexes: A marker of androgen insensitivity. Mol. Cell Endocrinol. 25: 151 (1982).PubMedCrossRefGoogle Scholar
  16. 16.
    W. J. Kovacs, J. E. Griffin, J. D. Wilson, Transformation of human androgen receptors to the deoxyribonucleic acid-binding state. Endocrinology 113: 1574 (1983).PubMedCrossRefGoogle Scholar
  17. 17.
    J. D. Wilson, B. R. Carlson, D. D. Weaver, W. J. Kovacs, J. E. Griffin, Endocrine and genetic characterization of cousins with male pseudohermaphroditism: Evidence that the Lubs phenotype can result from a mutation that alters the structure of the androgen receptor. Clin. Genet. (in press) (1984).Google Scholar
  18. 18.
    M. E. Collier, J. E. Griffin, J. D. Wilson, Intranuclear binding of [3H]dihydrotestosterone by cultured human fibroblasts. Endocrinology 103: 1499 (1978).PubMedCrossRefGoogle Scholar
  19. 19.
    C. Eil, Familial incomplete male pseudohermaphroditism associated with impaired nuclear androgen retention. J. Clin. Invest. 71: 850 (1983).PubMedCrossRefGoogle Scholar
  20. 20.
    S. Gyorki, G. L. Warne, B. A. K. Khalid, J. W. Funder, Defective nuclear accumulation of androgen receptors in disorders of sexual differentiation. J. Clin. Invest. 72: 819 (1983).PubMedCrossRefGoogle Scholar
  21. 21.
    B. R. Migeon, T. R. Brown, J. Axelman, C. J. Migeon, Studies of the locus for androgen receptor: Localization on the human X-chromosome and evidence for homology with the Tfm locus in the mouse. Proc. Natl. Acad. Sci. USA 78: 6339 (1981).PubMedCrossRefGoogle Scholar
  22. 22.
    W. J. Meyer, III, B. R. Migeon, C. J. Migeon, Locus on the human X-chromosome for dihydrotestosterone receptor and androgen insensitivity. Proc. Natl. Acad. Sci. USA 72: 1469 (1975).PubMedCrossRefGoogle Scholar
  23. 23.
    M. K. Elawady, D. R. Allman, J. E. Griffin, J. D. Wilson, Expression of a mutant androgen receptor in cloned fibroblasts from a heterozygous carrier for the syndrome of testicular feminization. Am. J. Hum. Genet. 35: 376 (1983).PubMedGoogle Scholar

Copyright information

© Plenum Press, New York 1986

Authors and Affiliations

  • William J. Kovacs
    • 1
  • James E. Griffin
    • 1
  • Jean D. Wilson
    • 1
  1. 1.Dept. of Internal MedicineThe University of Texas Health Science CenterDallasUSA

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