Ethical and Legal Implications of Genetic Testing in Androgen Insensitivity Syndrome

Journal of Pediatrics

Volumn 150, Issue 4, 2007, Pages 434-438

  Berg, Jonathan S ^a   French, Shannon L ^a   McCullough, Laurence B ^a   Kleppe, Soledad ^a   Sutton, Vernon R ^a   Gunn, Sheila K ^a   Karaviti, Lefkothea P ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANDROGEN RECEPTOR; POLYGLUTAMINE;

ANDROGEN INSENSITIVITY SYNDROME; ARTICLE; BLOOD FLOW; CASE REPORT; CELL HYPERPLASIA; CHILD; ECHOGRAPHY; EXON; FAMILY HISTORY; FEMALE; FOLLOW UP; GENE MUTATION; GENETIC CODE; GERM CELL; GESTATIONAL AGE; HEALTH HAZARD; HUMAN; INFANT; INFERTILITY; INGUINAL HERNIA; KARYOTYPE 46,XY; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; SEMINAL VESICLE; TESTIS; X CHROMOSOME LINKED DISORDER;

ANDROGEN-INSENSITIVITY SYNDROME; CHILD; CODON, NONSENSE; DISCLOSURE; FEMALE; GENETIC SCREENING; HERNIA, INGUINAL; HETEROZYGOTE; HUMANS; INFANT; INFORMED CONSENT; MALE; PEDIGREE; RECEPTORS, ANDROGEN; SEX; SIBLINGS; TESTIS; UNITED STATES;

EID: 33947272090     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jpeds.2006.12.037     Document Type: Article

References (26)

1. Brinkmann A.O. Molecular basis of androgen insensitivity. Mol Cell Endocrinol 179 (2001) 105-110
2. Sultan C., Lumbroso S., Paris F., Jeandel C., Terouanne B., Belon C., et al. Disorders of androgen action. Sem Reprod Med 20 (2002) 217-227
3. Gottlieb B., Beitel L.K., Wu J.H., and Trifiro M. The androgen receptor gene mutations database (ARDB): 2004 update. Hum Mutat 1 (2004) 02
4. Fleming A., and Vilain E. The endless quest for sex determination genes. Clin Genet 67 (2004) 15-25
5. Parker K.L., Schedl A., and Schimmer B.P. Gene interactions in gonadal development. Ann Rev Physiol 61 (1999) 417-433
6. Cotinot C., Pailhoux E., Jaubert F., and Fellous M. Molecular genetics of sex determination. Sem Reprod Med 20 (2002) 157-167
7. Griffin J.E., McPhaul M.J., Russell D.W., and Wilson J.D. The androgen resistance syndromes: steroid 5-reductase 2 deficiency, testicular feminization, and related disorders. In: Scriver C.R., Beaudet A.L., Valle D., and Sly W.S. (Eds). The online metabolic and molecular bases of inherited diseases (2006), McGraw-Hill, New York Chapter 160, p. 1-10
8. Ahmed S.F., Cheng A., and Hughes I.A. Assessment of the gonadotrophin-gonadal axis in androgen insensitivity syndrome. Arch Dis Child 80 (1999) 324-329
9. Morris J.A., Jordan C.L., and Breedlove M. Sexual differentiation of the vertebrate nervous system. Nat Neurosci 7 (2004) 1034-1039
10. Dewing P., Chiang C.W.K., 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 16 (2006) 415-420
11. Mazur T. Gender dysphoria and gender change in androgen insensitivity or micropenis. Arch Sex Behav 34 (2005) 411-421
12. Deeb A., Mason C., Lee Y.S., and Hughes I.A. Correlation between genotype, phenotype, and sex of rearing in 111 patients with partial androgen insensitivity syndrome. Clin Endocrinol 63 (2005) 56-62
13. Hooper H.T., Figueiredo B.C., Pavan-Senn C.C., De Lacerda L., Sandrini R., Mengarelli J.K., et al. Concordance of phenotypic expression and gender identity in a large kindred with a mutation in the androgen receptor. Clin Genet 65 (2004) 183-190
14. Hannema S.E., Scott I.S., Rajpert-De Meyts E., Skakkebaek N.E., Coleman N., and Hughes I.A. Testicular development in the complete androgen insensitivity syndrome. J Pathol 208 (2006) 518-527
15. Iwamoto I., Yanazume S., Fujino T., Yoshioka T., and Douchi T. Leydig cell tumor in an elderly patient with complete androgen insensitivity syndrome. Gynecol Oncol 96 (2005) 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 100 (2003) 9416-9421
18. Bertelloni S., Baroncelli G.I., Federico G., Cappa M., Lala R., and Saggese G. Altered bone mineral density in patients with complete androgen insensitivity syndrome. Horm Res 50 (1998) 309-314
19. Sobel V., Schwartz B., Zhu Y.S., Cordero J.J., and Imperato-McGinley J. Bone mineral density in the complete androgen insensitivity and 5{alpha}-reductase-2 deficiency syndromes. J Clin Endocrinol Metab 91 (2006) 3017-3023
20. Conn J., Gillam L., and Conway G.S. Revealing the diagnosis of androgen insensitivity syndrome in adulthood. BMJ 331 (2005) 628-630
21. Fadon R.R., and Beauchamp T.L. A history and theory of informed consent (1986), Oxford University Press, New York
22. Committee on Bioethics, American Academy of Pediatrics. Informed consent, parental permission, and assent in pediatric practice. Pediatrics 95 (1995) 314-317
23. Lee P.A., Houk C.P., Ahmed S.F., Hughes I.A., and 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 118 (2006) e488-e500
24. Greenberg J. Legal aspects of gender assignment. Endocrinologist 13 (2003) 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.