Skip to main content
SpringerLink
Log in

Disorders of Androgen Target Organs

  • Chapter
Andrology

  • 2524 Accesses

Abstract

In this chapter, as throughout this volume, we classify diseases according to where they originate, i.e., in which organ or physiological system. (see 4). All disease entities dealt with under Sects. 17.2–17.3 have in common, to variable degrees, impaired action of androgens or estrogens 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.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution
Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 109.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 139.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

References

  • Allera A, Herbst MA, Griffin JE, Wilson JD, Schweikert HU, McPhaul MJ (1995) Mutations of the androgen receptor coding sequence are infrequent in patients with isolated hypospadias. J Clin Endocrinol Metab 80:2697–2699

    Article  CAS  PubMed  Google Scholar 

  • Arzneimittelkommission der Deutschen Ärzteschaft (2008) Eine Gynäkomastie durch Finasterid kann die Diagnose eines Mammakarzinoms beim Mann verzögern. Dtsch Ärztebl 105:C2038

    Google Scholar 

  • Backe J (2002) Brustkrebs beim Mann. Dtsch Ärztebl 99: A1 168–1172

    Google Scholar 

  • Braunstein GD (2007) Gynecomastia. New Engl J Med 357: 1229–1237

    Article  CAS  PubMed  Google Scholar 

  • 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 337:91–95

    Article  CAS  PubMed  Google Scholar 

  • Ellis JA, Scurrah KJ, Cobb JE, Zaloumis SG, Duncan AE, Harrap SB (2007) Baldness and the androgen receptor: The AR polyglycine repeat polymorphism does not confer susceptibility to androgenetic alopecia. Hum Genet 121: 451–457

    Article  PubMed  Google Scholar 

  • Faustini-Fustini M, Rochira V, Carani C (1999) Oestrogen deficiency in men: Where are we today? Eur J Endocrinol 140: 111–129

    Article  CAS  PubMed  Google Scholar 

  • Fentiman IS, Fourquet A, Hortobagyi GN (2006) Male breast cancer. Lancet 367:595–604

    Article  PubMed  Google Scholar 

  • Gottlieb B, Beitel LK, Wu JH, Trifiro M (2004) The androgen receptor gene mutations database (ARDB): 2004 update. Hum Mutat 23:527–533

    Article  CAS  PubMed  Google Scholar 

  • Griffin JE, McPhaul M, Russell DW, Wilson JD (1995) The androgen resistance syndromes: Steroid 5a-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 2967–2998

    Google Scholar 

  • Grumbach MM, Conte FA (1991) Disorders of sex differentiation. In: Wilson JD, Foster DW (eds) Textbook of endocrinology. W.B. Saunders, Philadelphia, PA, pp 853–951

    Google Scholar 

  • Han TS, Goswami D, Trikudanathan S, Creighton SM, Conway GS (2008) Comparison of bone mineral density and body proportions between women with complete androgen insen-sitivity syndrome and women with gonadal dysgenesis. Eur J Endocrinol 159:179–185

    Article  CAS  PubMed  Google Scholar 

  • Henley DV, Lipson N, Korach KS, Bloch C (2007) Prepubertal gynecomastia linked to lavender and tea tree oil. N Engl J Med 356:479–485

    Article  CAS  PubMed  Google Scholar 

  • Hillmer AM, Flaquer A, Hanneken S, Eigelshoven S, Kortüm AK, Brockschmidt FF, GollaA, Metzen C, Thiele H, Kolberg S, Reinartz R, Betz RC, Ruzicka T, Hennies HC, Kruse R, Nöthen MM (2008) Genome-wide scan and fine-mapping linkage study of androgenetic alopecia reveals a locus on chromosome 3q26. Am J Hum Genet 82:737–743

    Article  CAS  PubMed  Google Scholar 

  • Hughes IA, Houk C, Ahmed SF, Lee PA (2006) Consensus statement on management of intersex disorders. J Ped Urol 2:148–162

    Article  CAS  Google Scholar 

  • Hurt WG, Bodurtha JN, McCall JB, Ali MM (1989) Seminoma in pubertal patient with androgen insensitivity syndrome. Am J Obstet Gynecol 161:530–531

    CAS  PubMed  Google Scholar 

  • Imperato-McGinley J, Zhu YS (2002) Androgens and male physiology the syndrome of 5-alpha-reductase-2 deficiency. Mol Cell Endocrinol 198:51–59

    Article  CAS  PubMed  Google Scholar 

  • 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 5a-reductase deficiency. J Clin Endocrinol Metab 54: 931–941

    Article  CAS  PubMed  Google Scholar 

  • Kaufman KD (2004) Clinical use of 5a-reductase inhibitors. In: Nieschlag E, Behre HM (eds) Testosterone: action, deficiency, substitution, 3rd edn. Springer, Heidelberg, pp 571–596

    Chapter  Google Scholar 

  • Krause A, Sinnecker GH, Hiort O, Thamm B, Hoepffner W (2004) Applicability of the SHBG androgen sensitivity test in the differential diagnosis of 46,XY gonadal dysgenesis, true hermaphroditism, and androgen insensitivity syndrome. Exp Clin Endocrinol Diabetes 112:236–240

    Article  CAS  PubMed  Google Scholar 

  • Kumanov P, Deepinder F, Robeva R, Tomova A, Li J, Agarwal A (2007) Relationship of adolescent gynecomastia with varic-ocele and somatometric parameters: a cross-sectional study in 6.200 healthy boys. J Adolesc Health 41:126–131

    Article  PubMed  Google Scholar 

  • LaSpada AR, Roling DB, Harding AE, Warner CL, Spiegel R, Hausmanova-Petrusewicz I, Woon-Chee Y, Fischbeck KH (1992) Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature Genetics 2:301–304

    Article  CAS  Google Scholar 

  • Lanfranco F, Zirilli L, Baldi M, Pignati E, Corneli G, Ghigo E, Aimaretti G, Carani C, Rochira V (2008) A novel mutation in the human aromatase gene: Insights on the relationship among serum estradiol, longitudinal growth and bone mineral density in an adult man under estrogen replacement treatment. Bone 43:628–635

    Article  CAS  PubMed  Google Scholar 

  • Lobaccaro JM, Lumbroso S, Belon C, Galtier-Dereure F, Bringer J, Lesimple T, Namer M, Cutuli BF, Pujol H, Sultan C (1993) Androgen receptor gene mutation in male breast cancer. Hum Mol Genet 2:1799–1802

    Article  CAS  PubMed  Google Scholar 

  • Maffei B, Murata Y, Rochira V, Tubert G, Aranda C, Vazquez M, Clyne CD, Davis S, Simpson ER, Carani C (2004) Dysmetabolic syndrome in a man with a novel mutation of the aromatase gene: Effects of testosterone, alendronate, and estradiol treatment. J Clin Endocrinol Metab 89:61–70

    Article  CAS  PubMed  Google Scholar 

  • Mahoney CP (1990) Adolescent gynecomastia. Differential diagnosis and management. Ped Clin North Am 6: 1389–1404

    Google Scholar 

  • Meikle AW (2004) The interrelationships between thyroid dysfunction and hypogonadism in men and boys. Thyroid 14(Suppl 1):S17–S25

    Article  CAS  PubMed  Google Scholar 

  • Norwood OT (1975) Male pattern baldness: Classification and incidence. South Med J 68:1359–1365

    CAS  PubMed  Google Scholar 

  • Quigley CA (1998) The androgen receptor: Physiology and pathophysiology. In: Nieschlag E, Behre HM (eds) Testosterone: action, deficiency, substitution, 2nd edn. Springer, Heidelberg, pp 33–106

    Google Scholar 

  • Randall VA (2004) Androgens and hair: The biological paradox. In: Nieschlag E, Behre HM (eds) Testosterone: action, deficiency, substitution, 3rd edn. Springer, Heidelberg, pp 207–231

    Chapter  Google Scholar 

  • Rodien P, Mebarki F, Mowszowicz I, Chaussain JL, 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 81:2994–2998

    Article  CAS  PubMed  Google Scholar 

  • Rutgers JL, Scully RE (1991) The androgen insensitivity syndrome (testicular feminization): a clinicopathological study of 43 cases. Int J Gynecol Pathol 10:126–144

    Article  CAS  PubMed  Google Scholar 

  • Shozu M, Sebastian S, Takayama K, Hsu WT, Schultz R, Neely K, Bryant M, Bulun SE (2003) Estrogen excess associated with novel gain-of-function mutations affecting the aro-matase gene. New Engl J Med 348:1855–1865

    Article  CAS  PubMed  Google Scholar 

  • Sinclair R, Greenland KJ, Egmond S, Hoedemaker C, Chapman A, Zajac JD (2007) Men with Kennedy disease have a reduced risk of androgenetic alopecia. Br J Dermatol 157: 290–294

    Article  CAS  PubMed  Google Scholar 

  • 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 5a-reductase 2 deficiency. Am J Med Genet 63:223–230

    Article  CAS  PubMed  Google Scholar 

  • 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. New Engl J Med 331:1056–1061

    Article  CAS  PubMed  Google Scholar 

  • Wieacker P, Knoke I, Jakubiczka S (1998) Clinical and molecular aspects of androgen receptor defects. Exp Clin Endocrinol Diabetes 106:446–452

    Article  CAS  PubMed  Google Scholar 

  • Wilson JD, Griffin JE, Russell DW (1993) Steroid 5a-reductase 2 deficiency. EndocrRev 14:577–593

    CAS  Google Scholar 

  • Wooster R, Mangion J, Ecles R, Smith S, Dowsett M, Averill D, Barrett-Lee P, Easton DF, Ponder BAJ, Stratton MR (1992) A germ-line mutation in the androgen receptor gene in two brothers with breast cancer and Reifenstein syndrome. Nat Genet 2:132–134

    Article  CAS  PubMed  Google Scholar 

  • Yong EL, Ng SC, Roy AC, Yun G, Ratman SS (1994) Pregnancy after hormonal correction of severe spermatogenic defect due to a mutation in androgen receptor gene. Lancet 344:826–827

    Article  CAS  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Institute of Human Genetics of the University, Vesaliusweg 12-14, Münster, 48149, Germany

    P. F. Wieacker

  2. Centre for Reproductive Medicine and Andrology of the University, Ernst-Grube-Str. 40, Halle/Saale, 06120, Germany

    Hermann M. Behre

  3. Centre for Reproductive Medicine and Andrology of the University, Domagkstr. 11, Mönster, 48149, Germany

    Eberhard Nieschlag

Authors
  1. P. F. Wieacker
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Hermann M. Behre
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Eberhard Nieschlag
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to P. F. Wieacker .

Editor information

Editors and Affiliations

  1. Centre for Reproductive Medicine and Andrology of the University, Domagkstr. 11, Mönster, 48149, Germany

    Eberhard Nieschlag  & Susan Nieschlag  & 

  2. Centre for Reproductive Medicine and Andrology of the University, Ernst-Grube-Str. 40, Halle/Saale, 06120, Germany

    Hermann M. Behre

Rights and permissions

Reprints and permissions

Copyright information

© 2010 Springer-Verlag Berlin Heidelberg

About this chapter

Cite this chapter

Wieacker, P.F., Behre, H.M., Nieschlag, E. (2010). Disorders of Androgen Target Organs. In: Nieschlag, E., Behre, H.M., Nieschlag, S. (eds) Andrology. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-78355-8_17

Download citation

  • DOI: https://doi.org/10.1007/978-3-540-78355-8_17

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-540-78354-1

  • Online ISBN: 978-3-540-78355-8

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics

Search

Navigation