21-Hydroxylase-Deficient Nonclassic Adrenal Hyperplasia: The Great Pretender

Seminars in Reproductive Medicine

Volumn 21, Issue 3, 2003, Pages 295-300

  Moran, Carlos ^b   Azziz, Ricardo ^a,c  

^a CEDARS SINAI MEDICAL CENTER   (United States)

^b INSTITUTO MEXICANO DEL SEGURO SOCIAL   (Mexico)

^c UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

Author keywords

Adrenal hyperplasia; Hyperandrogenism; Polycystic ovary syndrome

Indexed keywords

HYDROXYPROGESTERONE; STEROID 21 MONOOXYGENASE;

21 HYDROXYLASE DEFICIENT NONCLASSIC ADRENAL HYPERPLASIA; ADRENAL HYPERPLASIA; ADULT; CLINICAL FEATURE; ETHNOLOGY; FEMALE; GENOTYPE; HEREDITY; HOMOZYGOSITY; HUMAN; HYPERANDROGENISM; INSULIN RESISTANCE; MAJOR CLINICAL STUDY; OVARY POLYCYSTIC DISEASE; OVULATION; PATHOPHYSIOLOGY; PREVALENCE; REVIEW; SCREENING; STEROID 21 MONOOXYGENASE DEFICIENCY;

17-ALPHA-HYDROXYPROGESTERONE; ADRENAL HYPERPLASIA, CONGENITAL; DIAGNOSIS, DIFFERENTIAL; FEMALE; HUMANS; HYPERANDROGENISM; INSULIN RESISTANCE; OVARY; OVULATION; POLYCYSTIC OVARY SYNDROME; STEROID 21-HYDROXYLASE;

EID: 0142062619     PISSN: 15268004     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2003-43307     Document Type: Review

References (44)

1. Zawadzki JK, Dunaif A. Diagnostic criteria for polycystic ovary syndrome: towards a rational approach. In: Dunaif A, Givens JR, Haseltine F, Merriam GR, eds. Polycystic Ovary Syndrome. Boston: Blackwell Scientific; 1992:377-384
2. Azziz R, Boots LR, Parker CR Jr, Bradley E Jr, Zacur HA. 11β-Hydroxylase deficiency in hyperandrogenism. Fertil Steril 1991;55:733-741
3. Azziz R, Bradley EL Jr, Potter HD, Boots LR. 3β-Hydroxysteroid dehydrogenase deficiency in hyperandrogenism. Am J Obstet Gynecol 1993;168:889-895
4. Joehrer K, Geley S, Strasser-Wozak EMC, et al. CYP11B1 mutations causing non-classic adrenal hyperplasia due to 11β-hydroxylase deficiency. Hum Mol Genet 1997;6:1829-1834
5. Moran C, Potter HD, Reyna R, Boots LR, Azziz R. Prevalence of 3β-hydroxysteroid dehydrogenase deficient nonclassic adrenal hyperplasia in hyperandrogenic women with adrenal androgen excess. Am J Obstet Gynecol 1999;181:596-600
6. Azziz R, Hincapie LA, Knochenhauer ES, Dewailly D, Fox L, Boots LR. Screening for 21-hydroxylase deficient non-classic adrenal hyperplasia among hyperandrogenic women: a prospective study. Fertil Steril 1999;72:915-925
7. Moran C, Azziz R, Carmina E, et al. 21-Hydroxylasedeficient nonclassic adrenal hyperplasia is a progressive disorder. Am J Obstet Gynecol 2000;183:1468-1474
8. Speiser PW, Knochenhauer ES, Dewailly D, Fruzzetti F, Marcondes JAM, Azziz R. A multicenter study of women with nonclassical congenital adrenal hyperplasia: relationship between genotype and phenotype. Mol Genet Metab 2000;71:527-534
9. Bachega TASS, Billerbeck AEC, Marcondes JAM, Madureira G, Arnhold IJP, Mendonca BB. Influence of different genotypes on 17-hydroxyprogesterone levels in patients with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Clin Endocrinol (Oxf) 2000;52:601-607
10. Azziz R, Dewailly D, Owerbach D. Nonclassic adrenal hyperplasia: current concepts. J Clin Endocrinol Metab 1994;78:810-815
11. Knochenhauer ES, Key TJ, Kahsar-Miller M, Waggoner W, Boots LR, Azziz R. Prevalence of the polycystic ovary syndrome in unselected black and white women of the southeastern United States: a prospective study. J Clin Endocrinol Metab 1998;83:3078-3082
12. Asuncion M, Calvo RM, San Millan JL, Sancho J, Avila S, Escobar-Morreale HF. A prospective study of the prevalence of the polycystic ovary syndrome in unselected Caucasian women from Spain. J Clin Endocrinol Metab 2000;85:2434-2438
13. Moran C, Tapia MC, Hernandez E, Vazquez G, Garcia-Hernandez E, Bermudez JA. Etiological review of hirsutism in 250 patients. Arch Med Res 1994;25:311-314
14. Romaguera J, Moran C, Diaz-Montes TP, Hines GA, Cruz RI, Azziz R. Prevalence of 21-hydroxylase-deficient nonclassic adrenal hyperplasia and insulin resistance among hirsute women from Puerto Rico. Fertil Steril 2000;74:59-62
15. Sanchez LA, Knochenhauer ES, Gatlin R, Moran C, Azziz R. Differential diagnosis of clinically evident hyperandrogenism: experience with over 1000 consecutive patients. The Annual Meeting of the American Society for Reproductive Medicine, Orlando, FL, October 20-25, 2001 (Abstract O-294). Fertil Steril 2001;76:S111
16. 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;37:650-657
17. Chetkowski RJ, DeFazio J, Shamonki I, Judd HL, Chang RJ. The incidence of late-onset congenital adrenal hyperplasia due to 21-hydroxylase deficiency among hirsute women. J Clin Endocrinol Metab 1984;58:595-598
18. Azziz R, Zacur HA. 21-Hydroxylase deficiency in female hyperandrogenism: screening and diagnosis. J Clin Endocrinol Metab 1989;69:577-584
19. Kuttenn F, Couillin P, Girard F, et al. Late-onset adrenal hyperplasia in hirsutism. N Engl J Med 1985;313:224-231
20. Motta P, Catania A, Airaghi L, Mangone I, Cantalamessa L, Zanussi C. Prevalence of late-onset adrenal hyperplasia in post-menarchal hirsutism. J Endocrinol Invest 1988;11:675-678
21. Innanen VT, Vale JM. Assessment of the one hour adrenocorticotrophic hormone test in the diagnosis of attenuated 21-hydroxylase deficiency. J Clin Pathol 1990;43:493-495
22. Mithal A, Ammini AC, Godbole MM, et al. Late-onset adrenal hyperplasia in north Indian hirsute women. Horm Res 1988;30:1-4
23. Eldar-Geva T, Hurwitz A, Vecsei P, Palti Z, Milwidsky A, Roslër A. Secondary biosynthetic defects in women with late-onset congenital adrenal hyperplasia. N Engl J Med 1990;323:855-863
24. Khandekar S, Lata V, Dash RJ. Screening for late onset congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Indian J Med Res 1990;92:79-82
25. Arnaout MA. Late-onset congenital adrenal hyperplasia in women with hirsutism. Eur J Clin Invest 1992;22:651-658
26. Goldzieher JW, Green JA. The polycystic ovary I: clinical and histologic features. J Clin Endocrinol Metab 1962;22:325-338
27. Conway GS, Honour JW, Jacobs HS. Heterogeneity of the polycystic ovary syndrome: clinical, endocrine and ultrasound features in 556 patients. Clin Endocrinol (Oxf) 1989;30:459-470
28. Franks S. Polycystic ovary syndrome: a changing perspective. Clin Endocrinol (Oxf) 1989;31:87-120
29. Dewailly D, Vantyghem-Haudiquet MC, Sainsard C, et al. Clinical and biological phenotypes in late-onset 21 hydroxylase deficiency. J Clin Endocrinol Metab 1986;63:418-423
30. Carmina E, Koyama T, Chang L, Stanczyk FZ, Lobo RA. Does ethnicity influence the prevalence of adrenal hyperandrogenism and insulin resistance in polycystic ovary syndrome? Am J Obstet Gynecol 1992;167:1807-1812
31. Levin JH, Carmina E, Lobo RA. Is the inappropriate gonadotropin secretion of patients with the polycystic ovary syndrome similar to that of patients with adult-onset congenital adrenal hyperplasia? Fertil Steril 1991;56:635-640
32. Moran C, Knochenhauer E, Boots LR, Azziz R. Adrenal androgen excess in hyperandrogenism: relation to age and body mass. Fertil Steril 1999;71:671-674
33. 5-androstenediol as markers of adrenal androgen production in patients with 21-hydroxylase deficient nonclassic adrenal hyperplasia. Fertil Steril 1999;72:996-1000
34. New MI, Lorenzen F, Lerner AJ, et al. Genotyping steroid 21-hydroxylase deficiency: hormonal reference data. J Clin Endocrinol Metab 1983;57:320-326
35. 5 augments the 17,20-lyase activity of human P450c17 without direct electron transfer. J Biol Chem 1998;273:3158-3165
36. Azziz R, Rafi A, Smith BR, Bradley EL Jr, Zacur HA. On the origin of the elevated 17-hydroxyprogesterone levels after adrenal stimulation in hyperandrogenism. J Clin Endocrinol Metab 1990;70:431-436
37. Dunaif A, Segal KR, Futterweit W, Dobrjansky A. Profound peripheral insulin resistance, independent of obesity, in polycystic ovary syndrome. Diabetes 1989;38:1165-1174
38. Legro RS, Finegood D, Dunaif A. A fasting glucose to insulin ratio is a useful measure of insulin sensitivity in women with polycystic ovary syndrome. J Clin Endocrinol Metab 1998;83:2694-2698
39. Legro RS, Kunselman AR, Dodson WC, Dunaif A. Prevalence and predictors of risk for type 2 diabetes mellitus and impaired glucose tolerance in polycystic ovary syndrome: a prospective, controlled study in 254 affected women. J Clin Endocrinol Metab 1999;84:165-169
40. Talbott E, Clerici A, Berga SL, et al. Adverse lipid and coronary heart disease risk profiles in young women with polycystic ovary syndrome: results of a case-control study. J Clin Epidemiol 1998;51:415-422
41. Speiser PW, Serrat J, New MI, Gertner JM. Insulin insensitivity in adrenal hyperplasia due to nonclassical steroid 21-hydroxylase deficiency. J Clin Endocrinol Metab 1992;75:1421-1424
42. Kahsar-Milier MD, Nixon C, Boots LR, Go RC, Azziz R. Prevalence of polycystic ovary syndrome (PCOS) in first-degree relatives of patients with PCOS. Fertil Steril 2001;75:53-58
43. Miller WL. Molecular biology of steroid hormone synthesis. Endocr Rev 1988;9:295-318
44. Miller WL. Genetics, diagnosis and management of 21-hydroxylase deficiency. J Clin Endocrinol Metab 1994;78:241-246