Androgen insensitivity syndrome in the era of molecular genetics and the internet: A point of view

Journal of Pediatric Endocrinology and Metabolism

Volumn 11, Issue 1, 1998, Pages 3-9

  Warne, Garry L ^a   Zajac, Jeffrey D ^b   MacLean, Helen E ^a  

^a ROYAL CHILDREN'S HOSPITAL   (Australia)

^b ROYAL MELBOURNE HOSPITAL   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

ANDROGEN RECEPTOR;

ANDROGEN INSENSITIVITY SYNDROME; ARTICLE; GENE MUTATION; HERMAPHRODITISM; HUMAN; INTERNET; MEDICAL ETHICS; MEDICAL PROFESSION; MOLECULAR GENETICS; MUSCLE ATROPHY; SUPPORT GROUP; X CHROMOSOME LINKED DISORDER;

EID: 0031889390     PISSN: 0334018X     EISSN: None     Source Type: Journal    
DOI: 10.1515/JPEM.1998.11.1.3     Document Type: Article

References (25)

1. Evans RM. The steroid and thyroid hormone super-family (Review). Science 1988; 240: 889-895.
2. Jacobson W, Routledge J, Davies H, Saich T, Hughes I, Brinkmann A, Brown B, Clarkson P. Localisation of androgen receptors in dermal fibroblasts, grown in vitro, from normal subjects and from patients with androgen insensitivity syndrome. Horm Res 1995; 44: 75-84.
3. Smith DF, Toft DO. Steroid receptors and their associated proteins. Mol Endocrinol 1993; 7: 4-11.
4. 70, for the androgen receptor in human prostate cells. Proc Natl Acad Sci USA 1996; 93: 5517-5521.
5. Horwitz KB, Jackson TA, Bain DL, Richer JK, Takimoto GS, Tung L. Nuclear receptor coactivators and corepressors. Mol Endocrinol 1996; 10: 1167-1177.
6. La Spada AR, Wilson EM, Lubahn DB, Harding AE, Fischbeck KH. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature 1991; 352: 77-79.
7. MacLean HE, Warne GL, Zajac JD. Spinal and bulbar muscular atrophy: androgen receptor dysfunction caused by a trinucleotide repeat expansion. J Neurol Sci 1996; 135: 149-157.
8. Green H. Human genetic diseases due to codon reiteration: relationship to an evolutionary mechanism. Cell 1993; 74: 955-956.
9. Gottlieb B, Trifiro M, Lumbroso R, Vasiliou DM, Pinsky L. The androgen receptor gene mutations database. Nucleic Acids Res 1996; 24: 151-154.
10. MacLean HE, Warne GL, Zajac JD. Defects of androgen receptor function: from sex reversal to motor neurone disease. Mol Cell Endocrinol 1995; 112: 133-141.
11. Brinkmann AO, Jenster G, Ris-Stalpers C, van der Korput JAGM, Brüggenwirth HT, Boehmer ALM, Trapman J. Androgen receptor mutations. J Steroid Biochem Molec Biol 1995; 53: 443-448.
12. MacLean HE, Chu S, Joske F, Warne GL, Zajac JD. Androgen binding in heterozygotes in a family with androgen insensitivity syndrome. Biochem Biol Med 1995; 55: 31-37.
13. Quigley CA, De Bellis A, Marschke KB, El-Awardy MK, Wilson EM, French FS. Androgen receptor defects: historical, clinical and molecular perspectives. Endocr Rev 1995; 16: 271-321.
14. Lobaccaro JM, Belon C, Lumbroso S, Loewniczack G, Carre-Pigeon F, Job JC, Chaussain JL, Toublanc JE, Sultan C. Molecular prenatal diagnosis of partial androgen insensitivity syndrome based on the Hind III polymorphism of the androgen receptor gene. Clin Endocrinol 1994; 40: 295-296.
15. Rodien P, Mebarki F, Mowszowicz I, Chaussain J-L, Young J, Morel Y, Schaison G. Different phenotypes in a family with androgen insensitivity caused by the same M7801 point mutation in the androgen receptor gene. J Clin Endocrinol Metab 1996; 81: 2994-2998.
16. MacLean HE, Chu S, Warne GL, Zajac JD. Related individuals with different androgen receptor gene deletions. J Clin Invest 1993; 91: 1123-1148.
17. Batch JA, Williams DM, Davies HR, Brown BD, Evans BAJ, Hughes IA, Patterson MN. Androgen receptor gene mutations identified by SSCP in fourteen subjects with androgen insensitivity syndrome. Hum Molec Genet 1992; 1: 497-503.
18. Dark secret: XY women. H Clarke (producer) BBC Television, 1996.
19. Recommendations for Treatment. Intersex Society of North America. http://www.isna.org/recommendations. html.
20. Warne GL. Jackie, a girl in crisis. Maternal and Child Health 1992; 17: 359-360.
21. Dittmann RW, Kappes ME, Kappes MH. Sexual behaviour in adolescent and adult females with congenital adrenal hyperplasia. Psychoneuroendocrinology 1992; 17: 153-170.
22. AS 1996; 6: 4.
23. AS 1996; 6: 4-5.
24. Brochure: The AIS Support Group. Androgen Insensitivity Syndrome Support Group, 2 Shirburn Avenue, Mansfield Notts., NG18 2BY, UK.
25. Warne GL. Complete Androgen Insensitivity. Department of Endocrinology and Diabetes, Royal Children's Hospital, Parkville Victoria 3052, Australia, 1997.