The Journal of Pediatrics
Volume 150, Issue 4 , Pages 434-438 , April 2007

Ethical and Legal Implications of Genetic Testing in Androgen Insensitivity Syndrome

  • Jonathan S. Berg, MD, PhD

      Affiliations

    • Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX
    • ,
  • Shannon L. French, MD

      Affiliations

    • Department of Pediatrics, Division of Endocrinology and Metabolism, Baylor College of Medicine and Texas Children’s Hospital, Houston, TX
    • ,
  • Laurence B. McCullough, PhD

      Affiliations

    • Center for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, TX.
    • ,
  • Soledad Kleppe, MD

      Affiliations

    • Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX
    • ,
  • Vernon R. Sutton, MD

      Affiliations

    • Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX
    • ,
  • Sheila K. Gunn, MD

      Affiliations

    • Department of Pediatrics, Division of Endocrinology and Metabolism, Baylor College of Medicine and Texas Children’s Hospital, Houston, TX
    • ,
  • Lefkothea P. Karaviti, MD, PhD

      Affiliations

    • Department of Pediatrics, Division of Endocrinology and Metabolism, Baylor College of Medicine and Texas Children’s Hospital, Houston, TX
    • Corresponding Author InformationReprint requests: Dr Lefkothea P. Karaviti, MD, PhD, Texas Children’s Hospital Clinical Care Center, 6621 Fannin, Houston, TX 77030.

Received 23 August 2006 ,Revised 14 November 2006 ,Accepted 13 December 2006.

References 

  1. Brinkmann AO. Molecular basis of androgen insensitivity. Mol Cell Endocrinol. 2001;179:105–110
  2. Sultan C, Lumbroso S, Paris F, Jeandel C, Terouanne B, Belon C, et al. Disorders of androgen action. Sem Reprod Med. 2002;20:217–227
  3. Gottlieb B, Beitel LK, Wu JH, Trifiro M. The androgen receptor gene mutations database (ARDB): 2004 update. Hum Mutat. 2004;1:02
  4. Fleming A, Vilain E. The endless quest for sex determination genes. Clin Genet. 2004;67:15–25
  5. Parker KL, Schedl A, Schimmer BP. Gene interactions in gonadal development. Ann Rev Physiol. 1999;61:417–433
  6. Cotinot C, Pailhoux E, Jaubert F, Fellous M. Molecular genetics of sex determination. Sem Reprod Med. 2002;20:157–167
  7. Griffin JE, McPhaul MJ, Russell DW, Wilson JD. The androgen resistance syndromes: steroid 5-reductase 2 deficiency, testicular feminization, and related disorders. In:  Scriver CR,  Beaudet AL,  Valle D,  Sly WS editor. The online metabolic and molecular bases of inherited diseases. New York: McGraw-Hill; 2006;Chapter 160, p. 1-10
  8. Ahmed SF, Cheng A, Hughes IA. Assessment of the gonadotrophin-gonadal axis in androgen insensitivity syndrome. Arch Dis Child. 1999;80:324–329
  9. Morris JA, Jordan CL, Breedlove M. Sexual differentiation of the vertebrate nervous system. Nat Neurosci. 2004;7:1034–1039
  10. Dewing P, Chiang CWK, Sinchak K, Sim H, Fernagut P-O, Kelly S, et al. Direct regulation of adult brain function by the male-specific factor SRY. Curr Biol. 2006;16:415–420
  11. Mazur T. Gender dysphoria and gender change in androgen insensitivity or micropenis. Arch Sex Behav. 2005;34:411–421
  12. Deeb A, Mason C, Lee YS, Hughes IA. Correlation between genotype, phenotype, and sex of rearing in 111 patients with partial androgen insensitivity syndrome. Clin Endocrinol. 2005;63:56–62
  13. Hooper HT, Figueiredo BC, Pavan-Senn CC, De Lacerda L, Sandrini R, Mengarelli JK, et al. Concordance of phenotypic expression and gender identity in a large kindred with a mutation in the androgen receptor. Clin Genet. 2004;65:183–190
  14. Hannema SE, Scott IS, Rajpert-De Meyts E, Skakkebaek NE, Coleman N, Hughes IA. Testicular development in the complete androgen insensitivity syndrome. J Pathol. 2006;208:518–527
  15. Iwamoto I, Yanazume S, Fujino T, Yoshioka T, Douchi T. Leydig cell tumor in an elderly patient with complete androgen insensitivity syndrome. Gynecol Oncol. 2005;96:870–872
  16. The British Association of Paediatric Surgeons Working Party. Statement of the British Association of Paediatric Surgeons Working Party on the surgical management of children born with ambiguious genitalia. July 2001. Available at http://www.baps.org.uk. Accessed May 16, 2006.
  17. Kawano H, Sato T, Yamada T, Matsumoto T, Sekine K, Watanabe T, et al. Suppressive function of androgen receptor in bone resorption. Proc Natl Acad Sci U S A. 2003;100:9416–9421
  18. Bertelloni S, Baroncelli GI, Federico G, Cappa M, Lala R, Saggese G. Altered bone mineral density in patients with complete androgen insensitivity syndrome. Horm Res. 1998;50:309–314
  19. Sobel V, Schwartz B, Zhu YS, Cordero JJ, Imperato-McGinley J. Bone mineral density in the complete androgen insensitivity and 5{alpha}-reductase-2 deficiency syndromes. J Clin Endocrinol Metab. 2006;91:3017–3023
  20. Conn J, Gillam L, Conway GS. Revealing the diagnosis of androgen insensitivity syndrome in adulthood. BMJ. 2005;331:628–630
  21. Fadon RR, Beauchamp TL. A history and theory of informed consent. New York: Oxford University Press; 1986;
  22. Committee on Bioethics, American Academy of Pediatrics. Informed consent, parental permission, and assent in pediatric practice. Pediatrics. 1995;95:314–317
  23. Lee PA, Houk CP, Ahmed SF, Hughes IA International Consensus Conference on Intersex organized by the Lawson Wilkins Pediatric Endocrine Society and the European Society for Paediatric Endocrinology. Consensus statement on management of intersex disorders (International Consensus Conference on Intersex). Pediatrics. 2006;118:e488–e500
  24. Greenberg J. Legal aspects of gender assignment. Endocrinologist. 2003;13:277–286
  25. Littleton v Prange, 9 SW 3d 223 (4th Cir 1999).
  26. In re Estate of Marshall G. Gardiner, Case Number 85,030, Kansas, upheld by Kansas Supreme Court, March 15, 2002.

PII: S0022-3476(06)01205-4

doi: 10.1016/j.jpeds.2006.12.037

The Journal of Pediatrics
Volume 150, Issue 4 , Pages 434-438 , April 2007

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