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MeSH Review

Adrenal Hyperplasia, Congenital

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Analytical, diagnostic and therapeutic context of Adrenal Hyperplasia, Congenital


  1. ACTH stimulation tests and plasma dehydroepiandrosterone sulfate levels in women with hirsutism. Siegel, S.F., Finegold, D.N., Lanes, R., Lee, P.A. N. Engl. J. Med. (1990) [Pubmed]
  2. Management of virilizing congenital adrenal hyperplasia with cyproheptadine. Hsu, T.H. Ann. Intern. Med. (1980) [Pubmed]
  3. GATA factors and the nuclear receptors, steroidogenic factor 1/liver receptor homolog 1, are key mutual partners in the regulation of the human 3beta-hydroxysteroid dehydrogenase type 2 promoter. Martin, L.J., Taniguchi, H., Robert, N.M., Simard, J., Tremblay, J.J., Viger, R.S. Mol. Endocrinol. (2005) [Pubmed]
  4. True precocious puberty complicating congenital adrenal hyperplasia: treatment with a luteinizing hormone-releasing hormone analog. Pescovitz, O.H., Comite, F., Cassorla, F., Dwyer, A.J., Poth, M.A., Sperling, M.A., Hench, K., McNemar, A., Skerda, M., Loriaux, D.L. J. Clin. Endocrinol. Metab. (1984) [Pubmed]
  5. Bilateral laparoscopic adrenalectomy for congenital adrenal hyperplasia with severe hypertension, resulting from two novel mutations in splice donor sites of CYP11B1. Chabre, O., Portrat-Doyen, S., Chaffanjon, P., Vivier, J., Liakos, P., Labat-Moleur, F., Chambaz, E., Morel, Y., Defaye, G. J. Clin. Endocrinol. Metab. (2000) [Pubmed]
  6. Elevated androgen, brain development and language/learning disabilities in children with congenital adrenal hyperplasia. Plante, E., Boliek, C., Binkiewicz, A., Erly, W.K. Developmental medicine and child neurology. (1996) [Pubmed]
  7. The quality of life in adult female patients with congenital adrenal hyperplasia: a comprehensive study of the impact of genital malformations and chronic disease on female patients life. Kuhnle, U., Bullinger, M., Schwarz, H.P. Eur. J. Pediatr. (1995) [Pubmed]
  8. Adrenomedullary dysplasia and hypofunction in patients with classic 21-hydroxylase deficiency. Merke, D.P., Chrousos, G.P., Eisenhofer, G., Weise, M., Keil, M.F., Rogol, A.D., Van Wyk, J.J., Bornstein, S.R. N. Engl. J. Med. (2000) [Pubmed]
  9. Congenital adrenal hyperplasia due to point mutations in the type II 3 beta-hydroxysteroid dehydrogenase gene. Rhéaume, E., Simard, J., Morel, Y., Mebarki, F., Zachmann, M., Forest, M.G., New, M.I., Labrie, F. Nat. Genet. (1992) [Pubmed]
  10. Aldosterone synthesis in salt-wasting congenital adrenal hyperplasia with complete absence of adrenal 21-hydroxylase. Speiser, P.W., Agdere, L., Ueshiba, H., White, P.C., New, M.I. N. Engl. J. Med. (1991) [Pubmed]
  11. Pharmacologic suppression of the fetal adrenal gland in utero. Attempted prevention of abnormal external genital masculinization in suspected congenital adrenal hyperplasia. Evans, M.I., Chrousos, G.P., Mann, D.W., Larsen, J.W., Green, I., McCluskey, J., Loriaux, D.L., Fletcher, J.C., Koons, G., Overpeck, J. JAMA (1985) [Pubmed]
  12. Persistent testicular delta5-isomerase-3beta-hydroxysteroid dehydrogenase (delta5-3beta-HSD) deficiency in the delta5-3beta-HSD form of congenital adrenal hyperplasia. Schneider, G., Genel, M., Bongiovanni, A.M., Goldman, A.S., Rosenfield, R.L. J. Clin. Invest. (1975) [Pubmed]
  13. A mutation in CYP11B1 (Arg-448----His) associated with steroid 11 beta-hydroxylase deficiency in Jews of Moroccan origin. White, P.C., Dupont, J., New, M.I., Leiberman, E., Hochberg, Z., Rösler, A. J. Clin. Invest. (1991) [Pubmed]
  14. Polymorphism of the human complement C4 and steroid 21-hydroxylase genes. Restriction fragment length polymorphisms revealing structural deletions, homoduplications, and size variants. Schneider, P.M., Carroll, M.C., Alper, C.A., Rittner, C., Whitehead, A.S., Yunis, E.J., Colten, H.R. J. Clin. Invest. (1986) [Pubmed]
  15. Acne fulminans in late-onset congenital adrenal hyperplasia. Placzek, M., Degitz, K., Schmidt, H., Plewig, G. Lancet (1999) [Pubmed]
  16. P450XXI (steroid 21-hydroxylase) gene deletions are not found in family studies of congenital adrenal hyperplasia. Matteson, K.J., Phillips, J.A., Miller, W.L., Chung, B.C., Orlando, P.J., Frisch, H., Ferrandez, A., Burr, I.M. Proc. Natl. Acad. Sci. U.S.A. (1987) [Pubmed]
  17. Major-histocompatibility-complex gene markers and restriction-fragment analysis of steroid 21-hydroxylase (CYP21) and complement C4 genes in classical congenital adrenal hyperplasia patients in a single population. Partanen, J., Koskimies, S., Sipilä, I., Lipsanen, V. Am. J. Hum. Genet. (1989) [Pubmed]
  18. A novel frameshift mutation (141delT) in exon 1 of the 21-hydroxylase gene (CYP21) in a patient with the salt wasting form of congenital adrenal hyperplasia. Mutation in brief no. 255. Online. Krone, N., Braun, A., Roscher, A.A., Schwarz, H.P. Hum. Mutat. (1999) [Pubmed]
  19. Cryptic 21-hydroxylase deficiency in families of patients with classical congenital adrenal hyperplasia. Levine, L.S., Dupont, B., Lorenzen, F., Pang, S., Pollack, M., Oberfield, S., Kohn, B., Lerner, A., Cacciari, E., Mantero, F., Cassio, A., Scaroni, C., Chiumello, G., Rondanini, G.F., Gargantini, L., Giovannelli, G., Virdis, R., Bartolotta, E., Migliori, C., Pintor, C., Tato, L., Barboni, F., New, M.I. J. Clin. Endocrinol. Metab. (1980) [Pubmed]
  20. A novel nonstop mutation in the stop codon and a novel missense mutation in the type II 3beta-hydroxysteroid dehydrogenase (3beta-HSD) gene causing, respectively, nonclassic and classic 3beta-HSD deficiency congenital adrenal hyperplasia. Pang, S., Wang, W., Rich, B., David, R., Chang, Y.T., Carbunaru, G., Myers, S.E., Howie, A.F., Smillie, K.J., Mason, J.I. J. Clin. Endocrinol. Metab. (2002) [Pubmed]
  21. Adrenomedullary function is severely impaired in 21-hydroxylase-deficient mice. Bornstein, S.R., Tajima, T., Eisenhofer, G., Haidan, A., Aguilera, G. FASEB J. (1999) [Pubmed]
  22. Phenotypic features associated with mutations in steroidogenic acute regulatory protein. Bhangoo, A., Gu, W.X., Pavlakis, S., Anhalt, H., Heier, L., Ten, S., Jameson, J.L. J. Clin. Endocrinol. Metab. (2005) [Pubmed]
  23. Stress dose of hydrocortisone is not beneficial in patients with classic congenital adrenal hyperplasia undergoing short-term, high-intensity exercise. Weise, M., Drinkard, B., Mehlinger, S.L., Holzer, S.M., Eisenhofer, G., Charmandari, E., Chrousos, G.P., Merke, D.P. J. Clin. Endocrinol. Metab. (2004) [Pubmed]
  24. Cortisol production by testicular tumors in a patient with congenital adrenal hyperplasia (21-hydroxylase deficiency). Franco-Saenz, R., Antonipillai, I., Tan, S.Y., McCorquodale, M., Kropp, K., Mulrow, P.J. J. Clin. Endocrinol. Metab. (1981) [Pubmed]
  25. Parallelism of 11 beta- and 18-hydroxylation demonstrated by urinary free hormones in man. Sonino, N., Levine, L.S., Vecsei, P., New, M.I. J. Clin. Endocrinol. Metab. (1980) [Pubmed]
  26. Molecular analysis of patient and carrier genes with congenital steroid 21-hydroxylase deficiency by using polymerase chain reaction and single strand conformation polymorphism. Tajima, T., Fujieda, K., Nakayama, K., Fujii-Kuriyama, Y. J. Clin. Invest. (1993) [Pubmed]
  27. Deletion hybrid genes, due to unequal crossing over between CYP11B1 (11beta-hydroxylase) and CYP11B2(aldosterone synthase) cause steroid 11beta-hydroxylase deficiency and congenital adrenal hyperplasia. Portrat, S., Mulatero, P., Curnow, K.M., Chaussain, J.L., Morel, Y., Pascoe, L. J. Clin. Endocrinol. Metab. (2001) [Pubmed]
  28. Diversity of the CYP21P-like gene in CYP21 deficiency. Lee, H.H. DNA Cell Biol. (2005) [Pubmed]
  29. Molecular genetics of congenital adrenal hyperplasia. White, P.C., New, M.I. Baillieres Clin. Endocrinol. Metab. (1988) [Pubmed]
  30. High variability of CYP21 gene rearrangements in Spanish patients with classic form of congenital adrenal hyperplasia. Lobato, M.N., Aledo, R., Meseguer, A. Hum. Hered. (1998) [Pubmed]
  31. Distribution of deletions and seven point mutations on CYP21B genes in three clinical forms of steroid 21-hydroxylase deficiency. Mornet, E., Crété, P., Kuttenn, F., Raux-Demay, M.C., Boué, J., White, P.C., Boué, A. Am. J. Hum. Genet. (1991) [Pubmed]
  32. Genotyping is a valuable diagnostic complement to neonatal screening for congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency. Nordenström, A., Thilén, A., Hagenfeldt, L., Larsson, A., Wedell, A. J. Clin. Endocrinol. Metab. (1999) [Pubmed]
  33. Cortisol and 17-hydroxyprogesterone kinetics in saliva after oral administration of hydrocortisone in children and young adolescents with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Gröschl, M., Rauh, M., Dörr, H.G. J. Clin. Endocrinol. Metab. (2002) [Pubmed]
  34. Circulating antiandrogenic activity in children with congenital adrenal hyperplasia during peroral flutamide treatment. Hero, M., Jänne, O.A., Näntö-Salonen, K., Dunkel, L., Raivio, T. J. Clin. Endocrinol. Metab. (2005) [Pubmed]
  35. Adrenal steroid dynamics in congenital adrenal hyperplasia: evaluation by simultaneous bilateral adrenal venous catheterization. Wajchenberg, B.L., Achando, S.S., Okada, H., Shimizu, T., White, A., Lima, S.S., Pieroni, R.R., Leme, C.E. J. Clin. Endocrinol. Metab. (1979) [Pubmed]
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