The degree of external genitalia virilization in girls with 21-hydroxylase deficiency appears to be influenced by the CAG repeats in the androgen receptor gene

Clinical Endocrinology

Volumn 68, Issue 2, 2008, Pages 226-232

  Rocha, Rosana O ^a   Billerbeck, Ana Elisa C ^a   Pinto, Emília M ^a   Melo, Karla F S ^a   Lin, Chin J ^a   Longui, Carlos A ^a   Mendonca, Berenice B ^a   Bachega, Tânia A S S ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

ANDROGEN RECEPTOR; GENOMIC DNA; STEROID 21 MONOOXYGENASE;

ADULT; ARTICLE; CONTROLLED STUDY; DISEASE SEVERITY; ENZYME ACTIVITY; FEMALE; FEMALE GENITAL SYSTEM; GENE AMPLIFICATION; GENE FREQUENCY; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN LOCALIZATION; STEROID 21 MONOOXYGENASE DEFICIENCY; VIRILIZATION; X CHROMOSOME;

ADRENAL HYPERPLASIA, CONGENITAL; FEMALE; GENOTYPE; HUMANS; MALE; RECEPTORS, ANDROGEN; STEROID 21-HYDROXYLASE; TRINUCLEOTIDE REPEATS; VIRILISM;

EID: 38049130286     PISSN: 03000664     EISSN: 13652265     Source Type: Journal    
DOI: 10.1111/j.1365-2265.2007.03023.x     Document Type: Article

References (39)

1. New, M.I. Speiser, P.W. (1989) Congenital adrenal hyperplasia. In : C.G.D. Brook ed. Clinical Paediatric Endocrinology, 2nd edn. Oxford, 441 462.
2. Prader, A. (1954) Der genitalbefund beim pseudohermaphroditismus femininus der kengenitalen adrenogenitalen syndroms. Helvetica Paediatrica Acta, 9, 231 248.
3. Tusié-Luna, M.T., Traktman, P. White, P.C. (1990) Determination of functional effects of mutation in the steroid 21-hydroxylase gene (CPY21) using recombinant vaccina virus. Journal of Biological Chemistry, 265, 20916 20922.
4. Higashi, Y., Hiromasa, T., Tanae, A., Miki, A., Nakura, J., Kondo, T., Ohura, T., Ogawa, T., Nakayama, K. Fujii, K.Y. (1991) Effects of individual mutations in the p450 (c21) pseudogene, on the P450 (c21) activity and their distribution in the patient genomes of congenital steroid 21 hydroxylase deficiency. Journal of Biochemistry, 101, 638 657.
5. Speiser, P.W., Dupont, J., Zhu, D., Serrat, J., Buegeleisen, M., Tusiclun, M., Lesser, M., New, M.I. White, P.C. (1992) Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Journal of Clinical Investigation, 87, 584 595.
6. Wedell, A., Thilén, A., Ritzén, E.M., Stengler, B. Luthman, H. (1994) Mutational spectrum of the steroid 21-hydroxylase gene in Sweden: implications for genetic diagnosis and association with disease manifestation. Journal of Clinical Endocrinology and Metabolism, 78, 1145 1152.
7. Bachega, T.A.S.S., Billerbeck, A.E.C., Madureira, G., Marcondes, J.A.M., Longui, C.A., Leite, M.V., Arnhold, L.J.P. Mendonça, B.B. (1998) Molecular genotype in Brazilian patients with classical and nonclassical forms of 21-hydroxylase deficiency. Journal of Clinical Endocrinology and Metabolism, 83, 5716 5719.
8. Mangelsdorf, D.J., Thummel, C., Beato, M., Herrlich, P., Schutz, G., Umesono, K., Blumberg, B., Kastner, P., Mark, M., Chambon, P. Evans, R.M. (1995) The nuclear receptor superfamily: the second decade. Cell, 83, 835 839.
9. Chamberlain, N.L., Driver, E.D. Miesfeld, R.L. (1994) The length and location of CAG trinucleotide repeats in the androgen receptor N-terminal domain affect transactivation function. Nucleic Acids Research, 22, 3181 3186.
10. Tut, T.G., Ghadessy, M.A., Pinsky, T.L. Yong, E.L. (1997) Long poluglutamine tracts in the androgen receptor are associated with reduced trans-activation, impaired sperm production and male infertility. Journal of Clinical Endocrinology and Metabolism, 82, 3777 3782.
11. La Spada, A.R., Wilson, E.M., Lubahn, D.B., Harding, A.E. Fischbeck, K.H. (1991) Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature, 352, 77 79.
12. Giovannucci, E., Stampfer, M.J., Krithivas, K.M., Dahl, D., Brufsky, A., Talcott, J., Hennekens, C.H. Kantoff, P.W. (1997) The CAG repeat within the androgen receptor gene and its relationship to prostate cancer. Proceedings of the National Academy of Sciences of the USA, 94, 3320 3323.
13. Correa-Cerro, L., Wohr, G., Haussler, J., Berthon, P., Drelon, E., Angin, P., Fournier, G., Cussenot, O., Kraus, P., Just, W., Paiss, T., Cantu, J.M. Vogel, W. (1999) (CAG) nCAA and GGN repeats in the human androgen receptor gene are not associated with prostate cancer in a French-German population. European Journal of Human Genetics, 7, 347 362.
14. Beilin, J., Ball, E.M., Favaloro, J.M. Zajac, J.D. (2000) Effect of the androgen receptor CAG repeat polymorphism on transcriptional activity: specificity in prostate and non-prostate cell lines. Journal of Molecular Endocrinology, 25, 85 96.
15. Jääskeläinen, J., Korhonen, S., Voutilainen, R., Hippeläinen, N. Heinonen, S. (2005) Androgen receptor gene CAG length polymorphism in women with polycystic ovary syndrome. Fertility and Sterility, 83, 1724 1728.
16. Ibáñez, L., Ong, K.K., Mobngan, N., Jääskelä inen, J., Marcos, M.V., Hughes, I.A., Zegher, F. Dunger, D.B. (2003) Androgen receptor gene CAG repeat polymorphism in the development of ovarian hyperandrogenism. Journal of Clinical Endocrinology and Metabolism, 88, 3333 3338.
17. Vottero, A., Stratakis, C.A., Chizzoni, L., Longui, C.A., Karl, M. Chrousos, C.P. (1999) Androgen receptor-mediated hypersensitivity to androgens in women with nonhyperandrogenic hirsutism: skewing of chromosome inactivation. Journal of Clinical Endocrinology and Metabolism, 84, 1011 1015.
18. Calvo, R.M., Asuncion, M., Sancho, J., San Millan, J.L. Escobar-Morreale, H.F. (2000) The role of CAG repeat polymorphism in the androgen receptor gene and of skewed X chromosome inactivation, in the pathogenesis of hirsutism. Journal of Clinical Endocrinology and Metabolism, 85, 1735 1740.
19. Billerbeck, A.E., Mendonca, B.B., Pinto, E.M., Madureira, G., Arnhold, I.J. Bachega, T.A. (2002) Three novel mutations in CYP21 gene in Brazilian patients with the classical form of 21-hydroxylase deficiency due to a founder effect. Journal of Clinical Endocrinology and Metabolism, 87, 4314 4317.
20. Billerbeck, A.E., Bachega, T.A.S.S., Frazzatto, E.T., Nishi, M.Y., Goldberg, A.C., Marin, M.L.C., Madureira, G., Monte. O., Arnhold, I.J.P. Mendonca, B.B. (1999) A novel missense mutation, GLY424SER, in Brazilian patients with 21-hydroxylase deficiency. Journal of Clinical Endocrinology and Metabolism, 84, 870 2872.
21. Balsamo, A., Cicognani, A., Baldazzi, L., Barbaro, M., Baronio, F., Gennari, M., Bal, M., Cassio, A., Kontaxaki, K. Cacciari, E. (2003) CYP21 genotype, adult height, and pubertal development in 55 patients treated for 21-hydroxylase deficiency. Journal of Clinical Endocrinology and Metabolism, 88, 5680 5688.
22. White, P.C., New, M.I. Dupont, B. (1986) Structure of human steroid 21-hydroxylase genes. Proceedings of the National Academy of Sciences of the USA, 83, 5111 5115.
23. Miller, S.A., Dykes, D.D. Polesky, H.F. (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Research, 16, 1215.
24. Allen, R.C., Zoghbi, H.Y., Moseley, A.B., Rosenblatt, H.M. Belmont, J.W. (1992) Methylation of Hpa. II and Hha. I sites near the polymorphic CAG repeats in human androgen-receptor gene correlates with X chromosome inactivation. American Journal of Human Genetics, 51, 1229 1239.
25. Pegoraro, E., Schimke, R.N., Arahata, K., Hayashi, Y., Stern, H., Marks, H., Glasberg, M.R., Carroll, J.E., Taber, J.W. Wessel, H.B. (1994) Detection of new paternal dystrophin gene mutations in isolated cases of dystrophinopathy in females. American Journal of Human Genetics, 54, 989 1003.
26. Gale, R.E., Wheadon, H., Boulos, P. Linch, D.C. (1994) Tissue specificity of X-chromosome inactivation patterns. Blood, 83, 2899 2905.
27. Busque, L., Mio, R., Mattioli, J., Brais, E., Blais, N., Lalonde, Y., Maragh, M. Gilliland, D.G. (1996) Nonrandom X-inactivation patterns in normal females: lyonization ratios vary with age. Blood, 88, 59 65.
28. Racchi, O., Mangerini, R., Rapezzi, D., Rolfo, M., Gaetani, G.F. Ferraris, A.M. (1998) X-chromosome inactivation in normal females. Blood Cells, Molecules and Diseases, 24, 439 447.
29. Hickey, T., Chandy, A. Norman, R.J. (2002) The androgen receptor CAG repeat polymorphism and X-chromosome inactivation in Australian Caucasian women with infertility related to polycystic ovary syndrome. Journal of Clinical Endocrinology and Metabolism, 87, 161 165.
30. Wilson, R.C., Mercado, A.B., Cheng, K.C. New, M.I. (1995) Steroid 21-hydroxylase deficiency: genotype may not predict phenotype. Journal of Clinical Endocrinology and Metabolism, 80, 2322 2329.
31. Giwercman, Y.L., Nordenskjold, A., Ritzen, E.M., Nilsson, K.O., Ivarsson, A.S., Grandell, U. Wedell, A. (2002) An androgen receptor gene mutation (E653K) in a family with congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency as well as in partial androgen insensitivity. Journal of Clinical Endocrinology and Metabolism, 87, 2623 2628.
32. Legro, R.S., Shahbahrami, B., Lobo, R.A. Kovacs, B.W. (1994) Size polymorphisms of the androgen receptor among female Hispanics and correlation with androgenic characteristics. Obstetrics and Gynecology, 83, 701 706.
33. Naumova, A.K., Plenge, R.M., Bird, L.M., Leppert, M., Morgan, K., Willard, H.F. Sapienza, C. (1996) Heritability of X chromosome-inactivation phenotype in a large family. American Journal of Human Genetics, 58, 1111 1119.
34. Lau, A.W., Brown, C.J., Penãherrera, M., Langlois, S., Kalousek, D.K. Robinson, W.P. (1997) Skewed X-chromosome inactivation is common in fetuses or newborns associated with confined placental mosaicism. American Journal of Human Genetics, 61, 1353 1361.
35. Busque, L. Gilliand, D.G. (1998) X-inactivation analysis in the 1990s: promise and potential problems. Leukemia, 12, 128 135.
36. Kristiansen, M., Langerød, A., Knudsen, G.P., Weber, B.L., Børresen-Dale, A.-L. Ørstavik, K.H. (2002) High frequency of skewed X inactivation in young breast cancer patients. Journal of Medical Genetics, 39, 30 33.
37. Sharp, A., Robinson, D. Jacobs, P. (2000) Age and tissue-specific variation of X chromosome inactivation ratios in normal woman. Human Genetics, 107, 343 349.
38. Zeng, S.M. Yankowitz, J. (2003) X-inactivation patterns in human embryonic and extra-embryonic tissues. Placenta, 24, 270 275.
39. White, P.C. Speiser, P.W. (2000) Congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Endocrine Reviews, 21, 245 291.