Approach to the adult with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Journal of Clinical Endocrinology and Metabolism

Volumn 93, Issue 3, 2008, Pages 653-660

  Merke, Deborah P ^a  

^a NATIONAL INSTITUTES OF HEALTH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANDROGEN; ANDROSTENEDIONE; FLUDROCORTISONE; GLUCOCORTICOID; HYDROCORTISONE; HYDROXYPROGESTERONE; RENIN;

ADULT; ANAMNESIS; ARTICLE; BONE DENSITY; CASE REPORT; CLINICAL FEATURE; CONGENITAL ADRENAL HYPERPLASIA; FEMALE; FERTILITY; HUMAN; HYPERCORTISOLISM; LABORATORY TEST; PRIORITY JOURNAL; QUALITY OF LIFE; STEROID 21 MONOOXYGENASE DEFICIENCY;

EID: 40849139206     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2007-2417     Document Type: Article

References (59)

1. Merke DP, Bornstein SR 2005 Congenital adrenal hyperplasia. Lancet 365:2125-2136
2. Jaaskelainen J, Levo A, Voutilainen R, Partanen J 1997 Population-wide evaluation of disease manifestation in relation to molecular genotype in steroid 21-hydroxylase (CYP21) deficiency: good correlation in a well defined population. J Clin Endocrinol Metab 82:3293-3297
3. Krone N, Braun A, Roscher AA, Knorr D, Schwarz HP 2000 Predicting phenotype in steroid 21-hydroxylase deficiency? Comprehensive genotyping in 155 unrelated, well defined patients from southern Germany. J Clin Endocrinol Metab 85:1059-1065
4. Speiser PW, Dupont J, Zhu D, Serrat J, Buegeleisen M, Tusie-Luna MT, Lesser M, New MI, White PC 1992 Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Clin Invest 90:584-595
5. Wedell A, Thilen A, Ritzen EM, Stengler B, Luthman H 1994 Mutational spectrum of the steroid 21-hydroxylase gene in Sweden: implications for genetic diagnosis and association with disease manifestation. J Clin Endocrinol Metab 78:1145-1152
6. Therrell BL 2001 Newborn screening for congenital adrenal hyperplasia. Endocrinol Metab Clin North Am 30:15-30
7. Joint LWPES/ESPE CAH Working Group 2002 Consensus statement on 21-hydroxylase deficiency from the Lawson Wilkins Pediatric Endocrine Society and the European Society for Paediatric Endocrinology. J Clin Endocrinol Metab 87:4048-4053
8. New MI 1998 Diagnosis and management of congenital adrenal hyperplasia. Annu Rev Med 49:311-328
9. Bonfig W, Bechtold S, Schmidt H, Knorr D, Schwarz HP 2007 Reduced final height outcome in congenital adrenal hyperplasia under prednisone treatment: deceleration of growth velocity during puberty. J Clin Endocrinol Metab 92:1635-1639
10. Newell-Price J, Whiteman M, Rostami-Hodjegan A, Darzy K, Shalet S, Tucker GT, Ross RJ 2008 Modified-release hydrocortisone for circadian therapy: a proof-of-principle study in dexamethasone-suppressed normal volunteers. Clin Endocrinol (Oxf) 68:130-135
11. Charmandari E, Matthews DR, Johnston A, Brook CG, Hindmarsh PC 2001 Serum cortisol and 17-hydroxyprogesterone interrelation in classic 21-hydroxylase deficiency: is current replacement therapy satisfactory? J Clin Endocrinol Metab 86:4679-4685
12. Rosenfield RL 2002 Serum cortisol and 17-hydroxyprogesterone concentrations in children with classic congenital adrenal hyperplasia. J Clin Endocrinol Metab 87:2993; author reply 2993
13. Azziz R, Dewailly D, Owerbach D 1994 Nonclassic adrenal hyperplasia: current concepts. J Clin Endocrinol Metab 78:810-815
14. Ross RJ, Rostami-Hodjegan A 2005 Timing and type of glucocorticoid replacement in adult congenital adrenal hyperplasia. Horm Res 64(Suppl 2):67-70
15. Mulaikal RM, Migeon CJ, Rock JA 1987 Fertility rates in female patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. N Engl J Med 316:178-182
16. Claahsen-van der Grinten HL, Stikkelbroeck NM, Sweep CG, Hermus AR, Otten BJ 2006 Fertility in patients with congenital adrenal hyperplasia. J Pediatr Endocrinol Metab 19:677-685
17. Jaaskelainen J, Hippelainen M, Kiekara O, Voutilainen R 2000 Child rate, pregnancy outcome and ovarian function in females with classical 21-hydroxylase deficiency. Acta Obstet Gynecol Scand 79:687-692
18. Ghizzoni L, Virdis R, Vottero A, Cappa M, Street ME, Zampolli M, Ibanez L, Bernasconi S 1996 Pituitary-ovarian responses to leuprolide acetate testing in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Clin Endocrinol Metab 81:601-606
19. Jaaskelainen, Voutilainen R 2000 Long-term outcome of classical 21-hydroxylase deficiency: diagnosis, complications and quality of life. Acta Paediatr 89:183-187
20. Forsdike RA, Hardy K, Bull L, Stark J, Webber LJ, Stubbs S, Robinson JE, Franks S 2007 Disordered follicle development in ovaries of prenatally androgenized ewes. J Endocrinol 192:421-428
21. Gastaud F, Bouvattier C, Duranteau L, Brauner R, Thibaud E, Kutten F, Bougneres P 2007 Impaired sexual and reproductive outcomes in women with classical forms of congenital adrenal hyperplasia. J Clin Endocrinol Metab 92:1391-1396
22. Krege S, Walz KH, Hauffa BP, Korner I, Rubben H 2000 Long-term follow-up of female patients with congenital adrenal hyperplasia from 21-hydroxylase deficiency, with special emphasis on the results of vaginoplasty. BJU Int 86:253-258; discussion 258-259
23. Avila NA, Premkumar A, Merke DP 1999 Testicular adrenal rest tissue in congenital adrenal hyperplasia: comparison of MR imaging and sonographic findings. Am J Roentgenol 172:1003-1006
24. Russo G, Paesano P, Taccagni G, Del Maschio A, Chiumello G 1998 Ovarian adrenal-like tissue in congenital adrenal hyperplasia. N Engl J Med 339:853-854
25. Stikkelbroeck NM, Suliman HM, Otten BJ, Hermus AR, Blickman JG, Jager GJ 2003 Testicular adrenal rest tumours in postpubertal males with congenital adrenal hyperplasia: sonographic and MR features. Eur Radiol 13:1597-1603
26. Cabrera MS, Vogiatzi MG, New MI 2001 Long term outcome in adult males with classic congenital adrenal hyperplasia. J Clin Endocrinol Metab 86:3070-3078
27. Claahsen-van der Grinten HL, Otten BJ, Sweep FC, Hermus AR 2007 Repeated successful induction of fertility after replacing hydrocortisone with dexamethasone in a patient with congenital adrenal hyperplasia and testicular adrenal rest tumors. Fertil Steril 88:705-708
28. Hague WM, Adams J, Rodda C, Brook CG, de Bruyn R, Grant DB, Jacobs HS 1990 The prevalence of polycystic ovaries in patients with congenital adrenal hyperplasia and their close relatives. Clin Endocrinol (Oxf) 33:501-510
29. Stikkelbroeck NM, Hermus AR, Schouten D, Suliman HM, Jager GJ, Braat DD, Otten BJ 2004 Prevalence of ovarian adrenal rest tumours and polycystic ovaries in females with congenital adrenal hyperplasia: results of ultrasonography and MR imaging. Eur Radiol 14:1802-1806
30. Lo JC, Schwitzgebel VM, Tyrrell JB, Fitzgerald PA, Kaplan SL, Conte FA, Grumbach MM 1999 Normal female infants born of mothers with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Clin Endocrinol Metab 84:930-936
31. New MI, Carlson A, Obeid J, Marshall I, Cabrera MS, Goseco A, Lin-Su K, Putnam AS, Wei JQ, Wilson RC 2001 Prenatal diagnosis for congenital adrenal hyperplasia in 532 pregnancies. J Clin Endocrinol Metab 86:5651-5657
32. Gussinye M, Carrascosa A, Potau N, Enrubia M, Vicens-Calvet E, Ibanez L, Yeste D 1997 Bone mineral density in prepubertal and in adolescent and young adult patients with the salt-wasting form of congenital adrenal hyperplasia. Pediatrics 100:671-674
33. Girgis R, Winter JS 1997 The effects of glucocorticoid replacement therapy on growth, bone mineral density, and bone turnover markers in children with congenital adrenal hyperplasia. J Clin Endocrinol Metab 82:3926-3929
34. Mora S, Saggion F, Russo G, Weber G, Bellini A, Prinster C, Chiumello G 1996 Bone density in young patients with congenital adrenal hyperplasia. Bone 18:337-340
35. Jaaskelainen J, Voutilainen R 1996 Bone mineral density in relation to glucocorticoid substitution therapy in adult patients with 21-hydroxylase deficiency. Clin Endocrinol (Oxf) 45:707-713
36. King JA, Wisniewski AB, Bankowski BJ, Carson KA, Zacur HA, Migeon CJ 2006 Long-term corticosteroid replacement and bone mineral density in adult women with classical congenital adrenal hyperplasia. J Clin Endocrinol Metab 91:865-869
37. Sciannamblo M, Russo G, Cuccato D, Chiumello G, Mora S 2006 Reduced bone mineral density and increased bone metabolism rate in young adult patients with 21-hydroxylase deficiency. J Clin Endocrinol Metab 91:4453-4458
38. Bachelot A, Plu-Bureau G, Thibaud E, Laborde K, Pinto G, Samara D, Nihoul-Fekete C, Kuttenn F, Polak M, Touraine P 2007 Long-term outcome of patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Horm Res 67:268-276
39. Falhammar H, Filipsson H, Holmdahl G, Janson PO, Nordenskjold A, Hagenfeldt K, Thoren M 2007 Fractures and bone mineral density in adult women with 21-hydroxylase deficiency. J Clin Endocrinol Metab 92:4643-4649
40. Berenbaum SA 2001 Cognitive function in congenital adrenal hyperplasia. Endocrinol Metab Clin North Am 30:173-192
41. Johannsen TH, Ripa CP, Reinisch JM, Schwartz M, Mortensen EL, Main KM 2006 Impaired cognitive function in women with congenital adrenal hyperplasia. J Clin Endocrinol Metab 91:1376-1381
42. Berenbaum SA 1999 Effects of early androgens on sex-typed activities and interests in adolescents with congenital adrenal hyperplasia. Horm Behav 35: 102-110
43. Dittmann RW, Kappes MH, Kappes ME, Borger D, Meyer-Bahlburg HF, Stegner H, Willig RH, Wallis H 1990 Congenital adrenal hyperplasia. II. Gender-related behavior and attitudes in female salt-wasting and simple-virilizing patients. Psychoneuroendocrinology 15:421-434
44. Helleday J, Bartfai A, Ritzen EM, Forsman M 1994 General intelligence and cognitive profile in women with congenital adrenal hyperplasia (CAH). Psychoneuroendocrinology 19:343-356
45. Kelso WM, Nicholls ME, Warne GL, Zacharin M 2000 Cerebral lateralization and cognitive functioning in patients with congenital adrenal hyperplasia. Neuropsychology 14:370-378
46. Ernst M, Maheu FS, Schroth E, Hardin J, Golan LG, Cameron J, Allen R, Holzer S, Nelson E, Pine DS, Merke DP 2007 Amygdala function in adolescents with congenital adrenal hyperplasia: a model for the study of early steroid abnormalities. Neuropsychologia 45:2104-2113
47. Malouf MA, Migeon CJ, Carson KA, Petrucci L, Wisniewski AB 2006 Cognitive outcome in adult women affected by congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Horm Res 65:142-150
48. Wisniewski AB, Migeon CJ, Malouf MA, Gearhart JP 2004 Psychosexual outcome in women affected by congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Urol 171:2497-2501
49. Meyer-Bahlburg HF, Dolezal C, Baker SW, Carlson AD, Obeid JS, New MI 2004 Prenatal androgenization affects gender-related behavior but not gender identity in 5-12-year-old girls with congenital adrenal hyperplasia. Arch Sex Behav 33:97-104
50. Kuhnle U, Bullinger M, Schwarz HP 1995 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. Eur J Pediatr 154:708-716
51. Berenbaum SA, Korman Bryk K, Duck SC, Resnick SM 2004 Psychological adjustment in children and adults with congenital adrenal hyperplasia. J Pediatr 144:741-746
52. Merke DP, Chrousos GP, Eisenhofer G, Weise M, Keil MF, Rogol AD, Van Wyk JJ, Bornstein SR 2000 Adrenomedullary dysplasia and hypofunction in patients with classic 21-hydroxylase deficiency.NEngl J Med 343:1362-1368
53. Green-Golan L, Yates C, Drinkard B, VanRyzin C, Eisenhofer G, Weise M, Merke DP 2007 Patients with classic congenital adrenal hyperplasia have decreased epinephrine reserve and defective glycemic control during prolonged moderate-intensity exercise. J Clin Endocrinol Metab 92:3019-3024
54. Riepe FG, Krone N, Kruger SN, Sweep FC, Lenders JW, Dotsch J, Monig H, Sippell WG, Partsch CJ 2006 Absence of exercise-induced leptin suppression associated with insufficient epinephrine reserve in patients with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Exp Clin Endocrinol Diabetes 114:105-110
55. Weise M, Mehlinger SL, Drinkard B, Rawson E, Charmandari E, Hiroi M, Eisenhofer G, Yanovski JA, Chrousos GP, Merke DP 2004 Patients with classic congenital adrenal hyperplasia have decreased epinephrine reserve and defective glucose elevation in response to high-intensity exercise. J Clin Endocrinol Metab 89:591-597
56. Cornean RE, Hindmarsh PC, Brook CG 1998 Obesity in 21-hydroxylase deficient patients. Arch Dis Child 78:261-263
57. Charmandari E, Weise M, Bornstein SR, Eisenhofer G, Keil MF, Chrousos GP, Merke DP 2002 Children with classic congenital adrenal hyperplasia have elevated serum leptin concentrations and insulin resistance: potential clinical implications. J Clin Endocrinol Metab 87:2114-2120
58. Speiser PW, Serrat J, New MI, Gertner JM 1992 Insulin insensitivity in adrenal hyperplasia due to nonclassical steroid 21-hydroxylase deficiency. J Clin Endocrinol Metab 75:1421-1424
59. Sartorato P, Zulian E, Benedini S, Mariniello B, Schiavi F, Bilora F, Pozzan G, Greggio N, Pagnan A, Mantero F, Scaroni C 2007 Cardiovascular risk factors and ultrasound evaluation of intima-media thickness at common carotids, carotid bulbs, and femoral and abdominal aorta arteries in patients with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Clin Endocrinol Metab 92:1015-1018