The 21-hydroxylase-deficient adrenal hyperplasias: More than ACTH oversecretion

Journal of the Society for Gynecologic Investigation

Volumn 3, Issue 6, 1996, Pages 297-302

  Azziz, Ricardo ^a   Slayden, Scott M ^a  

^a UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

Author keywords

21 hydroxylase; ACTH; Adrenal hyperplasia; adrenocortical excess; hypothalamic pituitary adrenal axis

Indexed keywords

CONGENITAL ADRENAL HYPERPLASIA; CORTICOTROPIN RELEASE; HUMAN; HYPOTHALAMUS HYPOPHYSIS ADRENAL SYSTEM; PATHOPHYSIOLOGY; PRIORITY JOURNAL; RENIN ANGIOTENSIN ALDOSTERONE SYSTEM; REVIEW; STEROIDOGENESIS;

ADRENAL HYPERPLASIA, CONGENITAL; ADRENOCORTICOTROPIC HORMONE; HUMANS; STEROIDS;

EID: 0030297543     PISSN: 10715576     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1071-5576(96)00044-5     Document Type: Review

References (39)

1. 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;37:650-67.
2. 2. Jones HW Jr. A long look at the adrenogenital syndrome. Johns Hopkins Med J 1979;145:143-9.
3. 21. Acta Endocrinol (Copenh) 1958;29:513-24.
4. 4. Cutler GB Jr, Laue L. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency. N Engl J Med 1990;323:1806-13.
5. 5. Griffiths KD, Anderson JM, Rudd BT, Virdi NK, Golder G, Rayner PHW. Plasma renin activity in the management of congenital adrenal hyperplasia. Arch Dis Child 1984;59:360-5.
6. 6. Azziz R, Dewailly D, Owerbach D. Non-classic adrenal hyperplasia: Current concepts. J Clin Endocrinol Metab 1994;78: 810-5.
7. 7. Speiser PW, Dupont J, Zhu D, et al. Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Clin Invest 1992;90:594-5.
8. 8. Wedell A, Thilen A, Ritzen EM, Stengler B, Luthman H. Mutational spectrum of the steroid 21-hydroxylase gene in Sweden: Implications for genetic diagnosis and association with disease manifestation. J Clin Endocrinol Metab 1994;78:1145-52.
9. 9. Wilson RC, Mercado AB, Cheng KC, New MI. Steroid 21-hydroxylase deficiency: Genotype may not predict phenotype. J Clin Endocrinol Metab 1995;80:2322-9.
10. 10. Sydnor KL, Kelley VC, Raile RB, Ely RS, Sayers G. Blood adrenocorticotrophin in children with congenital adrenal hyperplasia. Proc Soc Exp Biol Med 1953;82:695-7.
11. 11. Cacciari E, Cicognani A, Pirazzoli P, et al. GH, ACTH, TSH, EH, and FSH reserve in prepubertal girls with congenital adrenal hyperplasia. J Clin Endocrinol Metab 1976;43:1146-52.
12. 12. Richards GE, Grumbach MM, Kaplan SL, Conte FA. The effect of long acting glucocorticoids on menstrual abnormalities in patients with virilizing congenital adrenal hyperplasia. J Clin Endocrinol Metab 1978;47:1208-15.
13. 13. Moreira AC, Elias LLK. Pituitary-adrenal responses to corticotropin-releasing hormone in different degrees of adrenal 21-hydroxylase deficiency. J Clin Endocrinol Metab 1992;74:198-203.
14. 14. Blackman SS Jr. Concerning the function and origin of the reticular zone of the adrenal cortex. Bull Hopkins Hosp 1946;78: 180-217.
15. 15. Jaresch S, Kornely E, Kley HK, Schlaghecke R. Adrenal incidentaloma and patients with homozygous or heterozygous congenital adrenal hyperplasia. J Clin Endocrinol Metab 1992;74: 685-9.
16. 16. Feuillan P, Pang S, Schürmeyer T, Avgerinos PC, Chrousos GP. The hypothalamic-pituitary-adrenal axis in partial (late-onset) 21-hydroxylase deficiency. J Clin Endocrinol Metab 1988;67: 154-60.
17. 17. Carmina E, Lobo R. Pituitary-adrenal responses to corticotropin-releasmg factor in late onset 21-hydroxylase deficiency. Fertil Steril 1990;54:79-83.
18. 18. Ghizzoni L, Bernasconi S, Virdis R, et al. Dynamics of 24-hour pulsatile cortisol, 17-hydroxyprogesterone, and androstenedione release in prepubertal patients with nonclassic 21-hydroxylase deficiency and normal prepubertal children. Metabolism 1994; 43:372-7.
19. 19. Kater CE, Biglieri EG, Wajchenberg B. Effects of continued adrenal corticotropin stimulation on the mineralocorticoid hormones in classical and nonclassical simple virilizing types of 21-hydroxylase deficiency. J Clin Endocrinol Metab 1985;60:1057-62.
20. 20. Azziz R, Kenney PH. Magnetic resonance imaging of the adrenal gland in women with late-onset adrenal hyperplasia. Fertil Steril 1991;56:142-4.
21. 21. New MI, Lorenzen F, Lerner AJ, et al. Genotyping steroid 21-hydroxylase deficiency: Hormonal reference data. J Clin Endocrinol Metab 1983;57:320-6.
22. 22. Kuttenen F, Couillin P, Girard F, et al. Late-onset adrenal hyperplasia in hirsutism. N Engl J Med 1985;313:224-31.
23. 23. Azziz R, Zacur HA. 21-Hydroxylase deficiency in female hyperandrogenism: Screening and diagnosis. J Clin Endocrinol Metab 1989;69:577-84.
24. 24. Miller WL. Genetics, diagnosis, and management of 21-hydroxylase deficiency. J Clin Endocrinol Metab 1994;78:241-6.
25. 25. Lippe BM, LaFranchi SH, Lavin N, Parlow A, Coyotupa J, Kaplan SA. Serum 17-α-hydroxyprogerterone, progesterone, estradiol, and testosterone in the diagnosis and management of congenital adrenal hyperplasia. J Pediatr 1974;85:782-7.
26. 26. Hughes IA, Winter JSD. The application of a serum 17OH-progesterone radioimmunoassay to the diagnosis and management of congenital adrenal hyperplasia. J Pediatr 1976;88:766-73.
27. 27. Smith R, Donald RA, Espiner EA, Glatthaar C, Abbott G, Scandrett M. The effect of different treatment regimens on hormonal profiles in congenital adrenal hyperplasia. J Clin Endocrinol Metab 1980;51:230-6.
28. 28. Antony G. Management of congenital adrenal hyperplasia. Lancet 1984;1:1073.
29. 29. Pincus DR, Kelnar CJH, Wallace AM. 17-Hydroxyprogesterone rhythms and growth velocity in congenital adrenal hyperplasia. J Paediatr Child Health 1993;29:302-4.
30. 30. Gunnala S, Clements L, Azziz R. Excessive preovulatory adrenocortical secretion of progesterone (P4) in 21-hydroxylase (21-OH) deficient salt-wasting classic adrenal hyperplasia (SW-CAH): No effect on oocyte quality or fertilizability. The American Reproductive Medicine Society, Abstract O-086, 1995.
31. 31. Fiet J, Gueux B, Raux-Demay MC, et al. Increased plasma 21-deoxycorticosterone (21-DB) levels in late-onset adrenal 21-hydroxylase deficiency suggest a mild defect of the mineralocorticoid pathway. J Clin Endocrinol Metab 1989;68:542-7.
32. 32. Hague WM, Adams J, Rodda C, et al. The prevalence of polycystic ovaries in patients with congenital adrenal hyperplasia and their close relatives. Clin Endocnnol (Oxf) 1990;33:501-10.
33. 33. Erickson GF, Magoffin DA, Jones KL. Theca function in polycystic ovaries of a patient with virilizing congenital adrenal hyperplasia. Fertil Steril 1989;51:173-6.
34. 34. Barnes RB, Rosenfield RL, Ehrmann DA, et al. Ovarian hyperandrogenism as a result of congenital adrenal virilizing disorders: Evidence for perinatal masculinization of neuroendocrine function in women. J Clin Endocrinol Metab 1994;79:1328-33.
35. 35. Hughes IA, Read GF. Menarche and subsequent ovarian function in girls with congenital adrenal hyperplasia. Horm Res 1982; 16:100-6.
36. 36. Levin JH, Carmina E, Lobo RA. Is the inappropriate gonadotropin secretion of patients with polycystic ovary syndrome similar to that of patients with adult-onset congenital adrenal hyperplasia? Fertil Steril 1991;56:635-40.
37. 37. Dewailly D, Vantyghem-Haudiquet MC, Sainsard C, et al. Clinical and biological phenotypes in late-onset 21-hydroxylase deficiency. J Clin Endocrinol Metab 1986;63:418-23.
38. 38. Feldman S, Billaud L, Thalabard JC, et al. Fertility in women with late-onset adrenal hyperplasia due to 21-hydroxylase deficiency. J Clin Endocrinol Metab 1992;74:635-9.
39. 39. Carmina E, Lobo RA. Ovarian suppression reduces clinical and endocrine expression of late-onset congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Fertil Steril 1994;62:738-43.