The incidence of 21α-hydroxylase deficiency in Greek hyperandrogenic women: Screening and diagnosis

Gynecological Endocrinology

Volumn 12, Issue 2, 1998, Pages 89-96

  Trakakis, E ^a   Chryssikopoulos, A ^a   Phocas, I ^a   Sarandakou, A ^a   Rizos, D ^a   Stavropoulos Giokas, C ^b  

^a UNIVERSITY OF ATHENS   (Greece)

^b Natl Ctr Immun and Tissues Typing   (Greece)

Author keywords

17 hydroxyprogesterone; 21 hydroxylase; HLA antigens; Hyperandrogenic women; NC CAH; Screening

Indexed keywords

CORTICOTROPIN; HYDROXYPROGESTERONE; STEROID 21 MONOOXYGENASE;

ADRENAL HYPERPLASIA; ADULT; ARTICLE; CONGENITAL ADRENAL HYPERPLASIA; ENZYME DEFICIENCY; FEMALE; FOLLICULAR PHASE; GREECE; HUMAN; HYPERANDROGENISM; INCIDENCE; MAJOR CLINICAL STUDY; PRIORITY JOURNAL; PROSPECTIVE STUDY; SCREENING;

EID: 0031961227     PISSN: 09513590     EISSN: None     Source Type: Journal    
DOI: 10.3109/09513599809024956     Document Type: Article

References (28)

1. Kohn B, Levine LS, Pollack MS, et al. Late onset steroid 21 hydroxylase deficiency: a variant of classical CAH. J Clin Endocrinol Metab 1982;55: 817-27
2. Chrousos GP, Loriaux DL, Mann DL, et al. Late onset 21 hydroxylase deficiency mimicking idiopathic hirsutism or polycystic ovarian disease. Ann Int Med 1982;96:43-8
3. Carmina E, Gagliano AM, Rosato F, et al. The endocrine patterns of late onset adrenal hyperplasia (C-21 hydroxylase deficiency). J Endocrinol Invest 1984;7:89-92
4. Brodie BL, Wentz AC. Late onset congenital adrenal hyperplasia: a gynecologist's perspective. Fertil Steril 1987;48:175-88
5. Chetkowski RJ, Defario J, Shamonki I, et al. The incidence of late onset congenital adrenal hyperplasia due to 21 hydroxylase deficiency among hirsute women. J Clin Endocrinol Metab 1984;58: 595-8
6. Kutten F, Guillin P, Girard F, et al. Late onset adrenal hyperplasia in hirsutism. N Engl J Med 1985;313:224-31
7. Azziz R, Zacur HA. 21-hydroxylase deficiency in female hyperandrogenism: screening and diagnosis. J Clin Endocrinol Metab 1989;69:577-84
8. Speiser PW, Dupont B, Rubistein P, et al. High frequency of nonclassical steroid 21 hydroxylase deficiency. Am J Hunt Genet 1985;37:650-67
9. Dewailly D, Wantyghem-Laudiquet MC, Sainsard C, et al. Clinical and biological phenotypes in late onset 21 hydroxylase deficiency. J Clin Endocrinol Metab 1986;63:418-23
10. Chryssikopoulos A, Sarandakou A, Phocas I, et al. Hormonal profiles and HLA typing in a family with non classical 21 hydroxylase deficiency. In Boutaleb Y, Gzouli A, eds. Recent Developments in Fertility and Sterility Series. The Proceedings of the XIIIth World Congress on Fertility & Sterility, Marrakesh. Carnforth: The Parthenon Publishing Group, 1989;53-9
11. Feldman S, Billaud L, Thalabard JC. Fertility in women with late onset adrenal hyperplasia due to 21 hydroxylase deficiency. J Clin Endocrinol Metab 1992;76:635-8
12. Dewailly D, Gillot-Longelin C, Cortet-Rudelli C, et al. Clinical aspects of late-onset 21-hydroxylase deficiency. Semin Reprod Endocrinol 1993;11:341-6
13. New MI, Lorenzen F, Lerner DJ, et al. Genotyping steroid 21 hydroxylase deficiency: hormonal reference data. J Clin Endocrinol Metab 1983;57:320-6
14. Azziz R, Cretchen W, Aeton R, et al. Pseudogene/functional gene ratio in late onset 21-hydroxylase deficient adrenal hyperplasia. Am J Obstet Gynecol 1990;162:633-8
15. Azziz R, Ashi R, Smith B, et al. On the origin of the elevated 17-hydroxyprogesterone levels after adrenal stimulation in hyperandrogenism. J Clin Endocrinol Metab 1990;70:431-6
16. Azziz R, Owerbach D. Molecular abnormalities of the 21-hydroxylase gene in hyperandrogenic women with an exaggerated 17-hydroxyprogesterone response to short-term adrenal stimulation. Am J Obstet Gynecol 1995;172:914-8
17. Ehrmann D, Rosenfield R, Barnes RB, et al. Detection of functional ovarian hyperandrogenism in women with androgen excess. N Engl J Med 1992;327:157-62
18. Azziz R, Dewailly D, Owerbach D. Clinical review 56. Nonclassical adrenal hyperplasia: Current concepts. J Clin Endocrinol Metab 1994;78: 810-26
19. Lorenzo E. Familial study of hirsutism. J Clin Endocrinol 1970;31:556-64
20. Terasaki PI, McClelland JD. Microdroplet assay of human serum cytoxins. Nature 1964;204:998-1000
21. Danilovs JA, Ayoub G, Terasaki PI. B-lymphocyte isolation by thrombin-nylon wool. In Terasaki, ed. Histocompatibility Testing. Los Angeles: UCLA Tissue Typing Lab, 1980:287-8
22. Barnes RB, Rosenfield RL, Burstein S, et al. Pituitary ovarian responses to nafarelin testing in the polycystic ovary syndrome. N Engl J Med 1989;320: 559-65
23. Phocas I, Sarandakou A, Rizos D, et al. Hormonal patterns in a successful pregnancy of a patient with late-onset 21-OH deficiency taking methylprednisolone; a case report. Eur J Obstet Gynecol Reprod Biol 1991;41:151-8
24. Azziz R, Cretchen W, Zacur H, et al. Abnormalities of 21-hydroxylase gene ratio and adrenal steroidogenesis in hyperandrogenic women with an exaggerated 17-hydroxyprogesterone response to acute adrenal stimulation. J Clin Endocrinol Metab 1991;73:1327-31
25. Velasco F, Pico A, Munoz C, et al. A genetic and hormonal study of 5 patients with nonclassical form of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Medicina Clinica 1992;9: 81-6
26. 1. N Engl J Med 1988;319:19-23
27. White PC, New MI. Genetic basis of endocrine disease 2: Congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Clin Endocrinol Metab 1992;74:6-11
28. Siegel SF, Finegold DN, Lanes R, et al. ACTH stimulation test and plasma dehydroepiandrosterone sulfate levels in women with hirsutism. N Engl J Med 1990;23:849-54