Fertility and Sterility
Volume 90, Issue 1 , Pages 56-59 , July 2008

A polymorphism of the CYP17 gene related to sex steroid metabolism is associated with female-to-male but not male-to-female transsexualism

  • Eva-Katrin Bentz, M.D.

      Affiliations

    • Department of Gynecologic Endocrinology and Reproductive Medicine, Medical University Vienna, Vienna, Austria
    • ,
  • Lukas A. Hefler, M.D.

      Affiliations

    • Department of Obstetrics and Gynecology, Medical University Vienna, Vienna, Austria
    • ,
  • Ulrike Kaufmann, M.D.

      Affiliations

    • Department of Gynecologic Endocrinology and Reproductive Medicine, Medical University Vienna, Vienna, Austria
    • ,
  • Johannes C. Huber, M.D., Ph.D.

      Affiliations

    • Department of Gynecologic Endocrinology and Reproductive Medicine, Medical University Vienna, Vienna, Austria
    • ,
  • Andrea Kolbus, Ph.D.

      Affiliations

    • Department of Gynecologic Endocrinology and Reproductive Medicine, Medical University Vienna, Vienna, Austria
    • ,
  • Clemens B. Tempfer, M.D.

      Affiliations

    • Department of Gynecologic Endocrinology and Reproductive Medicine, Medical University Vienna, Vienna, Austria
    • Corresponding Author InformationReprint requests: Clemens Tempfer, M.D., Department of Gynecologic Endocrinology and Reproductive Medicine, Medical University Vienna, Waehringer Guertel 18-20, A-1090 Vienna/Austria (FAX: +43-1-40400-2911).

Received 7 January 2007 ,Revised 14 May 2007 ,Accepted 14 May 2007.

References 

  1. Brown GR. A review of clinical approaches to gender dysphoria. J Clin Psychiatry. 1990;51:57–64
  2. Diagnostic and statistical manual of mental disorders. 4th ed.. Washington, DC: American Psychiatric Association; 1994;
  3. Landen M, Walinder J, Lundstrom B. Prevalence, incidence and sex ratio of transsexualism. Acta Psychiatr. 1996;93:221–223
  4. Bakker A, van Kesteren PJ, Gooren LJ, Bezemer PD. The prevalence of transsexualism in the Netherlands. Acta Psychiatr Scand. 1993;87:237–238
  5. van Goozen SH, Slabbekoorn D, Gooren LJ, Sanders G, Cohen-Kettenis PT. Organizing and activating effects of sex hormones in homosexual individuals. Behav Neurosci. 2002;116:982–988
  6. Walinder J, Thuwe I. A study of consanguinity between the parents of transsexuals. Br J Psychiatr. 1977;131:73–74
  7. Green R. Family cooccurrence of ‘gender dysphoria’: ten sibling or parent–child pairs. Arch Sex Behav. 2000;29:499–507
  8. Hengstschlaeger M, van Trotsenburg M, Repa C, Marton E, Huber JC, Bernaschek G. Sex chromosome aberrations and transsexualism. Fertil Steril. 2003;79:639–640
  9. Henningsson S, Westberg L, Nilsson S, Lundstrom B, Ekselius L. Sex steroid-related genes and male-to-female transsexualism. Psychoneuroendocrinology. 2005;30:657–664
  10. Feigelson S, Shames LS, Pike MC, Coetzee GA, Stanczyk FZ, Henderson BE. Cytochrome P450c17alpha gene (CYP17) polymorphism is associated with serum estrogen and progesterone concentrations. Cancer Res. 1998;58:585–587
  11. Tempfer CB, Riener E, Hefler LA, Huber JC, Muendlein A. DNA microarray-based analysis of single nucleotide polymorphisms may be useful for assessing the risks and benefits of hormone therapy. Fertil Steril. 2004;82:132–137
  12. Huber M, Mundlein A, Dornstauder E, Schneeberger C, Tempfer CB, Mueller MW, et al. Accessing single nucleotide polymorphisms in genomic DNA by direct multiplex polymerase chain reaction amplification on oligonucleotide microarrays. Annal Biochem. 2002;303:25–33
  13. Cohen-Kettenis PT, Gooren LJG. Transsexualism: a review of etiology, diagnosis, and treatment. J Psychosom Res. 1999;46:315–333
  14. Gruber CJ, Tschugguel W, Schneeberger C, Huber JC. Production and actions of estrogens. N Engl J Med. 2002;346:340–352
  15. Dorner G, Poppe I, Stahl F, Kolzsch J, Uebelhack R. Gene- and environment-dependent neuroendocrine etiogenesis of homosexuality and transsexualism. Exp Clin Endocrinol. 1991;98:141–150
  16. Bosinski HA, Peter M, Bonatz G, Arndt R, Heidenreich M, Sippell WG, et al. A higher rate of hyperandrogenic disorders in female-to-male transsexuals. Psychoneuroendocrinology. 1997;22:361–380

PII: S0015-0282(07)01228-9

doi: 10.1016/j.fertnstert.2007.05.056

Fertility and Sterility
Volume 90, Issue 1 , Pages 56-59 , July 2008

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