1. Speiser PW, Dupont B, Rubinstein P, Piazza A, Kastelan A. New MI. High frequency of nonclassical steroid 21-hydroxylase deficiency. Am J Hum Genet 1985; 37(4): 650-670.
2. White PC, Speiser PW. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Endocr Rev 2000; 21(3): 245-291.
3. Rosha RO, Billerbeck AEC, Pinto EM, Melo KFS, Lin CJ, Longui CA, Mendoca BB, Bachega TASS. 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. Clin Endocrinol 2008; 68(2): 226-232.
4. Azziz R, Sanchez LA, Knochenhauer ES, Moran C, Lazenby J, Stephens KC, Taylor K, Boots LR. Androgen excess in women: experience with over 1000 consecutive patients. J Clin Endocrinol Metab 2004; 89(2): 453-462.
5. Augarten A, Weissenberg R, Pariente C, Sack J. Reversible male infertility in late onset congenital adrenal hyperplasia. J Endocrinol Invest 1991; 14(3): 237-240.
6. Kalachanis I, Rousso D, Kourtis A, Goutzioulis F, Makedos G, Panidis D. Reversible infertility, pharmaceutical and spontaneous, in a male with late onset congenital adrenal hyperplasia, due to 21-hydroxylase deficiency. Arch Androl 2002; 48(1): 37-41.
7. New MI, Lorenzen F, Lerner AJ, Kohn B, Oberfield SE, Pollack MS, Dupont B, Stoner E, Levy DJ, Pang S, Levine LS. Genotyping steroid 21-hydroxylase deficiency: hormonal reference data. J Endocrinol Metab. 1983; 57(2): 320-326.
8. Speiser PW, White PC. Congenital adrenal hyperplasia. N Engl J Med 2003; 349(8): 776-788.
9. White PC, New MI, Dupont B. Structure of the human steroid 21-hydroxylase gene. Proc Natl Acad Sci USA 1986; 83(24): 5111-5115.
10. White PC, Tusie-Luna MT, New MI, Speiser PW. Mutations in steroid 21-hydroxylase (CYP21). Hum Mutat 1994; 3(3): 373-378.
11. The Human Gene Mutation Database at the Institute of Medical Genetics in Cardiff (http://www.hgmdc facuk/ac/index.php).
12. Speiser PW, New MI, While PC. Molecular genetic analysis of nonclassic steroid 21-hydroxylase deficiency associated with HLA-B14,DR1. N Engl J Med 1988; 319(1): 19-23.
13. Lee HH, Chao HT, Ng HT, Choo KB. Direct molecular diagnosis of CYP21 mutations in congenital adrenal hyperplasia. J Med Genet 1996; 33(5): 371-375.
14. Anastasovska V, Kocova M. Molecular analysis of family with congenital adrenal hyperplasia-genotype/phenotype discrepancy. Balkan J Med Genet 2007; 10(2): 23-27.
15. Efremov GD, Dimovski AJ, Plaseska-Karanfilska D, Simjanovska L, Sukarova E, Koceva S. Laboratory Manual, 3rd ed. Skopje: ICGEB Affiliated Center, Nucleic Acid Based Methods in Human and Veterinary Medicine, 1999.
16. Tusie-Luna MT, Speiser PW, Dumic M, New MI, White PC. A mutation (Pro-30 to Leu) in CYP21 represents a potential nonclassic steroid 21-hydroxylase deficiency allele. Mol Endocrinol 1991; 5(5): 685-692.
17. Speiser PW, Dupont J, Zhu D, Serrat J, Buegeleisen M, Tusie-Luna MT, Lesser M, New MI, White PC. Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Clin Invest 1992; 90(2): 584-595.
18. Dolžan V, Sólyom J, Fekete G, Kovács J, Rakosnikova V, Voltava F, Lebl J, Pribilincova Z, Baumgartner-Parzer SM, Riedl S, Waldhauser F, Frish H, Stopar-Obreza M, Kržišnik C, Battelino T. Mutational spectrum of steroid 21-hydroxylase and the genotype-phenotype association in the Middle European patients with congenital adrenal hyperplasia. Eur J Endocrinol 2005; 153(1): 99-106.
19. Helmberg A, Tusie-Luna MT, Tabarelli M, Kofler R, White PC. R339H and P453S: CYP21 mutations associated with nonclassic steroid 21-hydroxylase deficiency that are not apparent gene conversions. Mol Endocrinol 1992; 6(8): 1318-1322.
20. Menassa R, Tardy V, Despert F, Bouvattier-Morel C, Brossier JP, Cartigny M, Morel Y. p.H62L, a rare mutation of the CYP21 gene identified in two forms of 21-hydroxylase deficiency. J Clin EndocrinoL Metab 2008; 93(5): 1901-1908.
21. Soardi FC, Barbaro M, Lau IF, Lemos-Marini SH, Baptista MT, Guerra-Junior G, Wedell A, Lajic S, De Mello MP. Inhibition of CYP21A2 enzyme activity caused by novel missense mutations identified in Brazilian and Scandinavian patients. J Clin Endocrinol Metab 2008; 93(6): 2416-2420.
22. Balsamo A, Cacciari E, Baldazzi L, Tartaglia L, Cassio A, Mantovani V, Piazzi S, Cicognani A, Pirazzoli P, Mainetti B, Zappulla F. CYP21 analysis and phenotype/genotype relationship in the screened population of the Italian Emilia-Romagna region. Clin Endocrinol 2000; 53(1): 117-125.
23. Dolžan V, Stopar-Obreza M, Žerjav-Tanšek M, Breskvar K, Kržišnik C, Battelino T. Mutational spectrum of congenital adrenal hyperplasia in Slovenian patients: a novel Ala15Thr mutation and Pro30Leu within a larger gene conversion associated with a severe form of the disease. Eur J Endocrinol 2003; 149(2): 137-144.
24. Kocova M, Krstevska-Konstantinova M, Conevska B. Congenital adrenal hyperplasia in the Republic of Macedonia. 4th Asian Symposium of Childhood and Juvenile Endocrinology and Diabetes, January 26-29 1997, Chiang Mai, Thailand. Book of Abstracts, 68.
25. Kocova M, Sigel S, Krstevska-Konstantinova M, Blagoevska M, Trucco M. Detection of CYP21B gene mutation in the Republic of Macedonia. 8th Balkan Congress of Endocrinology, May 3-5, 1995, Bursa, Turkey. Book of Abstracts, 66.