Evidence for a heterozygote advantage in congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Journal of Clinical Endocrinology and Metabolism

Volumn 82, Issue 7, 1997, Pages 2097-2101

  Witchel, Selma F ^a   Lee, Peter A ^a   Suda Hartman, Makiko ^a   Trucco, Massimo ^a   Hoffman, Eric P ^b  

^a CHILDREN S HOSPITAL OF PITTSBURGH   (United States)

^b UNIVERSITY OF PITTSBURGH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

HYDROCORTISONE;

ADULT; ARTICLE; CLINICAL ARTICLE; CONGENITAL ADRENAL HYPERPLASIA; CONTROLLED STUDY; CORTICOTROPIN TEST; FEMALE; GENE CONVERSION; GENE MUTATION; GENOTYPE; HETEROZYGOTE; HUMAN; HYDROCORTISONE BLOOD LEVEL; HYDROCORTISONE RELEASE; MALE; MOLECULAR GENETICS; PRIORITY JOURNAL; STEROID 21 MONOOXYGENASE DEFICIENCY;

17-ALPHA-HYDROXYPROGESTERONE; ADRENAL HYPERPLASIA, CONGENITAL; ADRENOCORTICOTROPIC HORMONE; FEMALE; GENOTYPE; HETEROZYGOTE; HUMANS; HYDROCORTISONE; MALE; STEROID 21-HYDROXYLASE;

EID: 0030838040     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.82.7.2097     Document Type: Article

References (48)

1. Munck A, Náray-Fejes-Tóth A. 1992 The ups and downs of glucocorticoid physiology. Permissive and suppressive effects revisited. Mol Cell Endocrinol. 90:C1-C4.
2. New MI. 1992 Nonclassical 21-hydroxylase deficiency. In: Dunaif A, Givens JR, Haseltine FP, Merriam GR (eds) Polycystic ovary syndrome. Boston: Blackwell; 145-161.
3. Dupont B, Oberfield SE, Smithwick EM, Lee TD, Levine LS. 1977 Close genetic linkage between HLA and congenital adrenal hyperplasia (21-hydroxylase deficiency). Lancet. 2:1309-12.
4. Carroll MC, Campbell RD, Porter RR. 1985 Mapping of steroid 21-hydroxylase genes adjacent to complement component C4 gene in HLA, the major histocompatibility complex in man. Proc Natl Acad Sci USA. 82:521-525.
5. Higashi Y, Yoshioka H, Yamane M, Gotoh O, Fujii-Kuriyama Y. 1986 Complete nucleotide sequence of two steroid 21-hydroxylase genes tandemly arranged in human chromosome: a pseudogene and a genuine gene. Proc Natl Acad Sci USA. 83:2841-2845.
6. White PC, New MI, Dupont B. 1986 Structure of the human steroid 21-hydroxylase genes. Proc Natl Acad Sci USA. 83:5111-5115.
7. Kohn B, Levine LS, Pollack MS, et al. 1982 Late-onset steroid 21-hydroxylase deficiency: a variant of classical congenital adrenal hyperplasia. J Clin Endocrinol Metab. 55:817-827.
8. Morel Y, Miller WL. 1991 Clinical and molecular genetics of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Adv Hum Genet. 20:1-68.
9. Speiser PW, Dupont B, Rubinstein P, Piazza A, Kastelan A, New MI. 1985 High frequency of nonclassical steroid 21-hydroxylase deficiency. Am J Hum Genet. 37:650-667.
10. Speiser PW, New MI, White PC. 1988 Molecular genetic analysis of nonclassical steroid 21-hydroxylase deficiency associated with HLA-B14DR1. N Engl J Med. 319:19-23.
11. Sherman SL. Aston CE, Morton NE, Speiser PW, New MI. 1988 A segregation and linkage study of classical and nonclassical 21-hydroxylase deficiency. Am J Hum Genet. 42:830-838.
12. Dumic M, Brkljacic L, Speiser PW, et al. 1990 An update on the frequency of nonclassic deficiency of adrenal 21-hydroxylase in the Yugoslav population. Acta Endocrinol (Copenh). 122:703-710.
13. Speiser PW, New MI, Tannin GM, Pickering D, Yang SY, White PC. 1992 Genotype of Yupik Eskimos with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Hum Genet. 88:647-648.
14. Hochberg Z, Etzoni A. 1995 Genetic selection in nonclassical adrenal hyperplasia. J Clin Endocrinol Metab. 80:325.
15. John ME, John MC, Boggaram V, Simpson ER, Waterman MR. 1986 Transcriptional regulation of steroid hydroxylase genes by corticotropin. Proc Natl Acad Sci USA. 83:4715-4719.
16. Munck A, Guyre M, Holbrook NJ. 1984 Physiological functions of glucocorticoids in stress and their relation to pharmacologic actions. Endocr Rev. 5:25-44.
17. Jeffries WMcK. 1991 Cortisol and immunity. Med Hypotheses. 34:198-208.
18. Chikanza IC, Petrou P, Kingsley GH, Chrousos GP, Panayi GS. 1992 Defective hypothalamic response to immune and inflammatory stimuli in patients with rheumatoid arthritis. Arthritis Rheum. 35:1281-1288.
19. Siegel SF, Finegold DN, Lee PA. 1991 A ten minute ACTH stimulation test? [Poster] Proc of the 73rd Annual Meet of The Endocrine Soc. 1991; A819.
20. Tong JY, Hammad A, Rudert WA, Trucco A, Hsia S. 1993 Heteroduplexes for HLA DQB1 identity of family members and kidney donor-recipient pairs. Transplantation. 55:741-745.
21. Hsia S, Tong JY, Parris GL, et al. 1993 Molecular compatibility and renal graft survival-the HLA DRB1 genotyping. Transplantation. 55:395-399.
22. Miller SA, Dykes DD, Polesky HF. 1988 A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 16:1215.
23. Siegel SF, Lee PA, Rudert WA, Swinyard M, Trucco M. 1995 Phenotype/genotype correlations in 21-hydroxylase deficiency. Adol Pediatr Gynecol. 8:9-16.
24. Siegel SF, Hoffman EP, Trucco M. 1994 Molecular diagnosis of 21-hydroxylase deficiency: Detection of four mutations on a single gel. Biochem Med Metab Biol. 51:66-73.
25. Witchel SS, Lee PA, Trucco M. 1996 Who is a carrier? Detection of unsuspected mutations in 21-hydroxylase deficiency. Am J Med Genet. 61:2-9.
26. Siegel SF, Finegold DN, Murray PJ, Lee PA. 1991 Assessment of clinical hyperandrogenism in adolescent girls. Adolesc Pediatr Gynecol. 5:13-20.
27. Lee PA, Gareis FJ. 1975 Evidence for partial 21-hydroxylase deficiency among heterozygote carriers of congenital adrenal hyperplasia. J Clin Endocrinol Metab. 41:415-418.
28. Pasvol G, Weatherall DJ, Wilson RJM. 1978 Cellular mechanism for the protective effect of haemoglobin S against P. falciparum malaria. Nature. 274:701-703.
29. Gabriel SE, Brigman KN, Koller BH, Boucher RC, Stutts MJ. 1994 Cystic fibrosis heterozygote resistance to cholera toxin in the cystic fibrosis mouse model. Science. 266:107-109.
30. Lorenzen F, Pang S, New M, et al. 1980 Studies of the C-21 and C-19 steroids and HLA genotyping in siblings and parents of patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Clin Endocrinol Metab. 50:572-577.
31. Wilder RL, Calandra GB, Garvin AJ, Wright KD, Hansen CT. 1982 Strain, sex variation in the susceptibility to streptococcal cell wall-induced polyarthritis in the rat. Arthritis Rheum. 25:1064-1072.
32. Stemberg EM, Hill JM, Chrousos GP, et al. 1989 Inflammatory mediator-induced hypothalamic-pituitary-adrenal axis activation is defective in streptococcal cell wall arthritis-susceptible Lewis rats. Proc Natl Acad Sci USA. 86:2374-2378.
33. Gómez F, Lahmame A, de Kloet ER, Armario A. 1996 Hypothalamic-pituitary-adrenal response to chronic stress in five inbred rat strains: Differential responses are mainly located at the adrenocortical level. Neuroendocrinology. 63:327-337.
34. Karalis K, Crofford L, Wilder RL, Chrousos GP. 1995 Glucocorticoid and/or glucocorticoid antagonist effects in inflammatory disease-susceptible Lewis rats and inflammatory disease-resistant Fischer rats. Endocrinology. 136:3107-3112.
35. Dhabhar FS, McEwen BS, Spencer RL. 1993 Stress response, adrenal steroid receptor levels and corticosteroid-bincling globulin levels-a comparison between Spragtie-Dawley, Fischer 344 and Lewis rats. Brain Res. 616:89-98.
36. Schultz CH, Rivers EP, Feldkamp CS, et al. 1993 A characterization of hypothalamic-pituitary-adrenal axis function during and after human cardiac arrest. Crit Care Med. 21:1339-1347.
37. Gutai JP, Kowarski AA, Migeon CJ. 1977 The detection of the heterozygous carrier for congenital virilizing adrenal hyperplasia. J Pediatr. 90:924-929.
38. Krensky AM, Bongiovanni AM, Marino J, Parks J, Tenore A. 1977 Identification of heterozygote carriers of congenital adrenal hyperplasia by radioimmunoassay of serum 17-OH progesterone. J Pediatr. 90:930-933.
39. Schöbitz B, Reul JMHM, Holsboer F. 1994 The role of the hypothalamic-pituitary-adrenocortical system during inflammatory conditions. Crit Rev Neurobiol. 8:263-291.
40. Dhabhar FS, Miller AH, McEwen BS, Spencer RL. 1995 Effects of stress on immune cell distribution. Dynamics and hormonal mechanisms. J Immunol. 154:5511-5527.
41. Molijn GJ, Spek JJ, van Uffelen JCJ, et al. 1995 Differential adaptation of glucocorticoid sensitivity of peripheral blood mononuclear leukocytes in patients with sepsis or septic shock. J Clin Endocrinol Metab. 80:1799-1803
42. Chrousos GP. 1995 The hypothalamic-pituitary-adrenal axis and immune-mediated inflammation. N Engl J Med. 332:1351-1362.
43. Heinrich PC, Castell JV, Andus T. 1990 Interleukin-6 and the acute phase response. Biochem J. 265:621-636.
44. Wurtman RJ, Axelrod J. 1966 Control of enzymatic synthesis of adrenaline in the adrenal medulla by adrenal cortical steroids. J Biol Chem. 241:2301-2305.
45. Landberg L, Young JB. 1992 Catecholamines and the adrenal medulla. In: Wilson JD, Foster DW, eds. Williams textbook of endocrinology, 8th ed. Philadelphia: Saunders; 621-706.
46. Miller WL. 1994 Genetics, diagnosis, and management of 21-hydroxylase deficiency. J Clin Endocrinol Metab. 78:241-246.
47. Bristow J, Tee MK, Gitelman SE, Mellon SH, Miller WL. 1993a Tenascin-X. A novel extracellular matrix protein encoded by the human XB gene overlapping P450c21. J Cell Biol. 122:265-278.
48. Bristow J, Gitelman SE, Tee MK, Staels B, Miller WL. 1993 Abundant adrenal-specific transcription of the human P450c21A "pseudogene." J Biol Chem. 268:12919-12924.