Andrology pp 223-240 | Cite as

Disorders of Androgen Target Organs

  • D. Meschede
  • H. M. Behre
  • E. Nieschlag

Abstract

In this chapter, as throughout this volume, we classify diseases according to where they originate, i. e. in which organ or physiological system. All disease entities dealt with under Sect. 11.1–11.2 have in common, to variable degrees, impaired action of androgens in their target organs. Gynecomastia represents an exception; this disorder will be discussed here more for reasons of clinical convenience rather than according to strictly nosological criteria.

Keywords

Tamoxifen Prolactin Infertility Cimetidine Hyperthyroidism 

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References

  1. Aiman J, Griffin JE (1982) The frequency of androgen receptor deficiency in infertile men. J Clin Endocrinol Metab 54:725–732PubMedCrossRefGoogle Scholar
  2. Arbizu T, Santamaria J, Gomez JM, Quilez A, Peres Serra J (1983) A family with adult spinal and bulbar muscular atrophy, X-linked inheritance and associated testicular failure. J Neurol Sci 59:371–382PubMedCrossRefGoogle Scholar
  3. Bals-Pratsch M, Schweikert H-U, Nieschlag E (1990) Androgen receptor disorder in three brothers with bifid prepenile scrotum and hypospadias. Acta Endocrinol 123:271–276PubMedGoogle Scholar
  4. Bergfeld WF (1995) Androgenetic alopecia: an autosomal dominant disorder. Am J Med 98:95S-98SPubMedCrossRefGoogle Scholar
  5. Berkovitz GD, Guerami A, Brown TR, MacDonald PC, Migeon CJ (1985) Familial gynecomastia with increased extra-glandular aromatization of plasma carbon19-steroids. J Clin Invest 75:1763–1769PubMedCrossRefGoogle Scholar
  6. Bowers SP, Pearlman NW, Mclntyre RC Jr, Finlayson CA, Huerd S (1998) Cost-effective management of gynecomastia. Am J Surg 176:638–641PubMedCrossRefGoogle Scholar
  7. Braunstein GD (1993) Gynecomastia. N Engl J Med 328:490–495PubMedCrossRefGoogle Scholar
  8. Carani C, Qin K, Simoni M, Faustini-Fustini M, Serpente S, Boyd J, Korach KS, Simpson ER (1997) Effect of testosterone and estradiol in a man with aromatase deficiency. N Engl J Med 337:91–95PubMedCrossRefGoogle Scholar
  9. Csokay B, Udvarhelyi N, Sulyok Z, Besznyak I, Ramus S, Ponder B, Olah E (1999) High frequency of germ-line BRCA2 mutations among Hungarian male breast cancer patients without family history. Cancer Res 59:995–998PubMedGoogle Scholar
  10. Colombo-Benkmann M, Buse B, Stern J, Herfarth C (1998) Surgical therapy of gynecomastia and its results. Langenbecks Arch Chir Suppl Kongressbd 115:1282–1284PubMedGoogle Scholar
  11. Courtiss EH (1987) Gynecomastia: analysis of 159 patients and recommendations for treatment. Plastic Recon Surg 79:740–753CrossRefGoogle Scholar
  12. Crichlow RW, Galt SW (1990) Male breast cancer. Surg Clin North Am 70:1165–1177PubMedGoogle Scholar
  13. Dowsing AT, Yong EL, Clark M, McLachlan RI, de Kretser DM, Trounson AO (1999) Linkage between male infertility and trinucleotide repeat expansion in the androgen-receptor gene. Lancet 354:640–643PubMedCrossRefGoogle Scholar
  14. Faustini-Fustini M, Rochira V, Carani C (1999) Oestrogen deficiency in men: where are we today? Eur J Endocrinol 140:111–129PubMedCrossRefGoogle Scholar
  15. Finkelstein JS, McCully WF, MacLaughlin DT, Godine JE, Crowley WF (1988) The mortician’s mystery: gynecomastia and reversible hypogonadotropic hypogonadism in an embalm-er. N Engl J Med 318:961–965PubMedCrossRefGoogle Scholar
  16. Griffin JE, McPhaul M, Russell DW, Wilson JD (1995) The androgen resistance syndromes: Steroid 5α-reductase 2 deficiency, testicular feminization, and related disorders. In: Scriver CE, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease, vol II, 7th edn. McGraw Hill, New York, pp 2967–2998Google Scholar
  17. Hamilton JB (1942) Male hormone stimulation is prerequisite and an incitant in common baldness. Am J Anat 71:451CrossRefGoogle Scholar
  18. Harding AE, Thomas PK, Baraitser M, Bradbury PG, MorganHughes JA, Ponsford JR (1982) X-linked recessive bulbospinal neuronopathy: a report of ten cases. J Neurol Neurosurg Psychiatry 45:1012–1019PubMedCrossRefGoogle Scholar
  19. Hiort O, Sinnecker GHG, Holterhus P-M, Nitsche EM, Kruse K (1996) The clinical and molecular spectrum of androgen insensitivity syndromes. Am J Med Genet 63:218–222PubMedCrossRefGoogle Scholar
  20. Hiort O, Holterhus P-M, Sinnecker GHG, Kruse K (1999) An-drogenresistenzsyndrome — Klinische und molekulare Grundlagen. Dtsch Ärztebl 96:A686–692Google Scholar
  21. Imperato-McGinley J, Guerrero L, Gautier T, Peterson RE (1974) Steroid 5α-reductase deficiency in man: an inherited form of male pseudohermaphroditism. Science 186:1213–1215PubMedCrossRefGoogle Scholar
  22. Imperato-McGinley J, Peterson RE, Gautier T, Cooper G, Danner R, Arthur A, Morris PL, Sweeney WJ, Shackleton C (1982) Hormonal evaluation of a large kindred with complete androgen insensitivity: evidence for secondary 5α-reductase deficiency. J Clin Endocrinol Metab 54:931–941PubMedCrossRefGoogle Scholar
  23. Kaufman KD, Ohlsen EA, Whiting D et al (1998) Finasteride in the treatment of men with androgenetic alopecia (male pattern hair loss). J Am Acad Dermatol 36:578–589CrossRefGoogle Scholar
  24. Kreß W, Grimm T, Müller CR (1993) Molekulargenetische Diagnostik bei der X-chromosomal rezessiven bulbospinalen Muskelatrophie (Typ Kennedy). Med Genetik 5:269–270Google Scholar
  25. 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 352:77–79PubMedCrossRefGoogle Scholar
  26. Lundberg Giwercman Y, 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. Clin Genet 54:435–436Google Scholar
  27. Mahoney CP (1990) Adolescent gynecomastia. Differential diagnosis and management. Ped Clin North Am 6:1389–1404Google Scholar
  28. Merry DE, Kobayashi Y, Bailey CK, Taye AA, Fischbeck KH (1998) Cleavage, aggregation and toxicity of the expanded androgen receptor in spinal and bulbar muscular atrophy. Hum Mol Genet 7:693–701PubMedCrossRefGoogle Scholar
  29. Morrow AF, Gyorski S, Warne GL, Burger HG, Bangah ML, Outch KH, Mirovics A, Baker HWG (1987) Variable androgen receptor levels in infertile men. J Clin Endocrinol Metab 64:1115–1121PubMedCrossRefGoogle Scholar
  30. Norwood OT (1975) Male pattern baldness: classification and incidence. South Med J 68:1359–1365PubMedCrossRefGoogle Scholar
  31. O’Hanlon DM, Kent P, Kerin MJ, Giren HF (1995) Unilateral breast masses in men over 40: a diagnostic dilemma. Am J Surg 170:24–26PubMedCrossRefGoogle Scholar
  32. Pich A, Margaria E, Chiusa L, Candelaresi G, Dal Canton O (1999) Androgen receptor expression in male breast carcinoma: lack of clinicopathological association. Br J Cancer 79:959–964PubMedCrossRefGoogle Scholar
  33. Price P, Wass JAH, Griffin JE, Leshin M, Savage MO, Large DM, Bu’Lock DE, Anderson DC, Wilson JD, Besser GM (1984) High dose androgen therapy in male pseudohermaphroditism due to 5α-reductase deficiency and disorders of the androgen receptor. J Clin Invest 74:1496–1508PubMedCrossRefGoogle Scholar
  34. Quigley CA, De Bellis A, Marschke KB, El-Awady MK, Wilson EM, French FS (1995) Androgen receptor defects: historical, clinical, and molecular perspectives. Endocr Rev 16:271–321PubMedGoogle Scholar
  35. Randall VA (1998) Androgens and hair. In: Nieschlag E, Behre HM (eds) Testosterone: action, deficiency, substitution, 2nd edn. Springer, Berlin Heidelberg New York, pp 169–186CrossRefGoogle Scholar
  36. Rodien P, Mebarki F, Mowszowicz I, Chaussain J-L, Young J, Morel Y, Schaison G (1996) Different phenotypes in a family with androgen insensitivity caused by the same M780I point mutation in the androgen receptor gene. J Clin Endocrinol Metab 81:2994–2998PubMedCrossRefGoogle Scholar
  37. Sasano H, Kimura M, Shizawa S, Kimura N, Nagura H (1996) Aromatase and steroid receptors in gynecomastia and male breast carcinoma: an immunohistochemical study. J Clin Endocrinol Metab 81:3063–3067PubMedCrossRefGoogle Scholar
  38. Scully RE (1981) Neoplasia associated with anomalous sexual development and abnormal sex chromosomes. Pediat Ado-lesc Endocr 8:203–217Google Scholar
  39. Sinnecker GHG, Hiort O, Dibbelt L, Albers N, Dörr HG, Hauß H, Heinrich U, Hemminghaus M, Hoepffner W, Holder M, Schnabel D, Kruse K (1996) Phenotypic classification of male pseudohermaphroditism due to steroid 5α-reductase 2 deficiency. Am J. Med Genet 63:223–230PubMedCrossRefGoogle Scholar
  40. Sinnecker GHG, Hiort O, Nitsche EM, Holterhus P-M, Kruse K, German Collaborative Intersex Study Group (1997) Functional assessment and clinical classification of androgen sensitivity in patients with mutations of the androgen receptor gene. Eur J Pediatr 156:7–14PubMedCrossRefGoogle Scholar
  41. Smith EP, Boyd J, Frank GR, Takahashi H, Cohen RM, Specker B, Williams TC, Lubahn DB, Korach KS (1994) Estrogen resistance caused by a mutation in the estrogen-receptor gene in a man. N Engl J Med 331:1056–1061PubMedCrossRefGoogle Scholar
  42. Thompson DF, Carter JR (1993) Drug-induced gynecomastia. Pharmacotherapy 13:37–45PubMedGoogle Scholar
  43. Vierhapper H, Nowotny P (1999) Gynaecomastia and raised oestradiol concentrations. Lancet 353:640PubMedCrossRefGoogle Scholar
  44. Wilson JD, Griffin JE, Russell DW (1993) Steroid 5α-reductase 2 deficiency. Endocr Rev 14:577–593PubMedGoogle Scholar
  45. Wooster R, Mangion J, Eeles R, Smith S, Dowsett M, Averill D, Barrett-Lee P, Easton DF, Ponder BAJ, Stratton MR (1992) A germline mutation in the androgen receptor gene in two brothers with breast cancer and Reifenstein syndrome. Nature Genet 2:132–134PubMedCrossRefGoogle Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 2001

Authors and Affiliations

  • D. Meschede
  • H. M. Behre
  • E. Nieschlag

There are no affiliations available

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