Classical forms of congenital adrenal hyperplasia due to 21-hydroxylase deficiency in adults

Hormone Research

Volumn 69, Issue 4, 2008, Pages 203-211

  Bachelot, Anne ^a   Chakthoura, Zeina ^a   Rouxel, Agnès ^a   Dulon, Jérome ^a   Touraine, Philippe ^a  

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

Author keywords

21 OH deficiency; Adrenal rest tumors; Body mass index; Bone mineral density; Congenital adrenal hyperplasia; Fertility

Indexed keywords

ANDROGEN; CALCIUM; FLUDROCORTISONE; FOLLITROPIN; GLUCOCORTICOID; HYDROCORTISONE; LUTEINIZING HORMONE; MITOTANE; PROGESTERONE; STEROID 21 MONOOXYGENASE; VITAMIN D;

ADENOHYPOPHYSIS; ADRENAL TUMOR; ADRENALECTOMY; ADULT; ADULTHOOD; AGE DISTRIBUTION; BODY HEIGHT; BODY MASS; BONE DENSITY; BONE TURNOVER; CARDIOVASCULAR RISK; CHILDHOOD; CLINICAL FEATURE; CONGENITAL ADRENAL HYPERPLASIA; CORTICOSTEROID INDUCED OSTEOPOROSIS; DISEASE CLASSIFICATION; FEMALE FERTILITY; FEMALE INFERTILITY; FOLLOW UP; GONADOTROPIN RELEASE; GYNECOLOGIC SURGERY; HORMONAL REGULATION; HORMONE INHIBITION; HORMONE SUBSTITUTION; HUMAN; HYPOGONADISM; HYPOTHALAMUS; INSULIN RESISTANCE; MALE INFERTILITY; METABOLIC DISORDER; METABOLISM; MORNING DOSAGE; NEUROENDOCRINE SYSTEM; OBESITY; OSTEOPENIA; OVARY ADRENAL REST TUMOR; OVARY POLYCYSTIC DISEASE; OVARY TUMOR; POSTOPERATIVE COMPLICATION; PREGNANCY; PRIORITY JOURNAL; PSYCHOLOGICAL ASPECT; PUBERTY; REPRODUCTION; SEXUAL BEHAVIOR; SHORT SURVEY; SODIUM DEPLETION; STEROID 21 MONOOXYGENASE DEFICIENCY; STEROIDOGENESIS; SUBFERTILITY; TESTIS ADRENAL REST TUMOR; TESTIS TUMOR; VIRILIZATION;

ADRENAL HYPERPLASIA, CONGENITAL; ADULT; HUMANS; INFERTILITY; METABOLISM, INBORN ERRORS; OBESITY; OSTEOPOROSIS; STEROID 21-HYDROXYLASE;

EID: 42449120224     PISSN: 03010163     EISSN: None     Source Type: Journal    
DOI: 10.1159/000113020     Document Type: Short Survey

References (65)

1. White PC, Speiser PW: Congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Endocr Rev 2000;21:245-291.
2. Dupont B, Oberfield SE, Smithwick EM, Lee TD, Levine LS: Close genetic linkage between HLA and congenital adrenal hyperplasia (21-hydroxylase deficiency). Lancet 1977;2:1309-1312.
3. Levine LS, Zachmann M, New MI, Prader A, Pollack MS, O'Neill GJ, Yang SY, Oberfield SE, Dupont B: Genetic mapping of the 21-hydroxylase-deficiency gene within the HLA linkage group. N Engl J Med 1978;299:911-915.
4. Morel Y, Tardy V, Costa JM, Forest MG, David M: 21 hydroxylase deficiency: new strategies emerging from molecular studies. Ann Endocrinol (Paris) 2003;64:456-470.
5. Merke DP, Bornstein SR: Congenital adrenal hyperplasia. Lancet 2005;365:2125-2136.
6. Therrell BL: Newborn screening for congenital adrenal hyperplasia. Endocrinol Metab Clin North Am 2001;30:15-30.
7. Charmandari E, Johnston A, Brook CG, Hindmarsh PC: Bioavailability of oral hydrocortisone in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Endocrinol 2001;169:65-70.
8. Charmandari E, Matthews DR, Johnston A, Brook CG, Hindmarsh PC: Serum cortisol and 17-hydroxyprogesterone interrelation in classic 21-hydroxylase deficiency: is current replacement therapy satisfactory? J Clin Endocrinol Metab 2001;86:4679-4685.
9. Ross RJ, Rostami-Hodjegan A: Timing and type of glucocorticoid replacement in adult congenital adrenal hyperplasia. Horm Res 2005;64(suppl 2):67-70.
10. Cutler GB Jr, Laue L: Congenital adrenal hyperplasia due to 21-hydroxylase deficiency. N Engl J Med 1990;323:1806-1813.
11. Warinner SA, Zimmerman D, Thompson GB, Grant CS: Study of three patients with congenital adrenal hyperplasia treated by bilateral adrenalectomy. World J Surg 2000;24:1347-1352.
12. Bruining H, Bootsma AH, Koper JW, Bonjer J, de Jong FF, Lamberts SW: Fertility and body composition after laparoscopic bilateral adrenalectomy in a 30-year-old female with congenital adrenal hyperplasia. J Clin Endocrinol Metab 2001;86:482-484.
13. Gmyrek GA, New MI, Sosa RE, Poppas DP: Bilateral laparoscopic adrenalectomy as a treatment for classic congenital adrenal hyperplasia attributable to 21-hydroxylase deficiency. Pediatrics 2002;109:e28.
14. Ogilvie CM, Rumsby G, Kurzawinski T, Conway GS: Outcome of bilateral adrenalectomy in congenital adrenal hyperplasia: one unit's experience. Eur J Endocrinol 2006;154:405-408.
15. Guo CY, Weetman AP, Eastell R: Bone turnover and bone mineral density in patients with congenital adrenal hyperplasia. Clin Endocrinol (Oxf) 1996;45:535-541.
16. Gussinye M, Carrascosa A, Potau N, Enrubia M, Vicens-Calvet E, Ibanez L, Yeste D: Bone mineral density in prepubertal and in adolescent and young adult patients with the salt-wasting form of congenital adrenal hyperplasia. Pediatrics 1997;100:671-674.
17. Mora S, Saggion F, Russo G, Weber G, Bellini A, Prinster C, Chiumello G: Bone density in young patients with congenital adrenal hyperplasia. Bone 1996;18:337-340.
18. Stikkelbroeck NM, Oyen WJ, van der Wilt GJ, Hermus AR, Otten BJ: Normal bone mineral density and lean body mass but increased fat mass in young adult patients with congenital adrenal hyperplasia. J Clin Endocrinol Metab 2003;88:1036-1042.
19. Girgis R, Winter JS: 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 1997;82:3926-3929.
20. Christiansen P, Molgaard C, Muller J: Normal bone mineral content in young adults with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Horm Res 2004;61:133-136.
21. Jaaskelainen J, Voutilainen R: Bone mineral density in relation to glucocorticoid substitution therapy in adult patients with 21-hydroxylase deficiency. Clin Endocrinol (Oxf) 1996; 45:707-713.
22. Hagenfeldt K, Ritzen EM, Ringertz H, Helleday J, Carlstrom K: Bone mass and body composition of adult women with congenital virilizing 21-hydroxylase deficiency after glucocorticoid treatment since infancy. Eur J Endocrinol 2000;143:667-671.
23. Cameron FJ, Kaymakci B, Byrt EA, Ebeling PR, Warne GL, Wark JD: Bone mineral density and body composition in congenital adrenal hyperplasia. J Clin Endocrinol Metab 1995;80:2238-2243.
24. Paganini C, Radetti G, Livieri C, Braga V, Migliavacca D, Adami S: Height, bone mineral density and bone markers in congenital adrenal hyperplasia. Horm Res 2000;54:164-168.
25. de Almeida Freire PO, de Lemos-Marini SH, Maciel-Guerra AT, Morcillo AM, Matias Baptista MT, de Mello MP, Guerra G Jr: Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a cross-sectional study of factors involved in bone mineral density. J Bone Miner Metab 2003;21:396-401.
26. King JA, Wisniewski AB, Bankowski BJ, Carson KA, Zacur HA, Migeon CJ: Long term corticosteroid replacement and bone mineral density in adult women with classical congenital adrenal hyperplasia. J Clin Endocrinol Metab 2006;9:865-869.
27. Sciannamblo M, Russo G, Cuccato D, Chiumello G, Mora S: Reduced bone mineral density and increased bone metabolism rate in young adult patients with 21-hydroxylase deficiency. J Clin Endocrinol Metab 2006;91:4453-4458.
28. Bachelot A, P-Bureau G, Thibaud E, Laborde K, Pinto G, Samara D, Nihoul-Fékété C, Kuttenn F, Polak M, Touraine P: Long-term outcome of patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Horm Res 2006;67:268-276.
29. Gallagher MP, Levine LS, Oberfield SE: A review of the effects of therapy on growth and bone mineralization in children with congenital adrenal hyperplasia. Growth Horm IGF Res 2005;15(suppl A):S26-S30.
30. Cornean RE, Hindmarsh PC, Brook CGD: Obesity in 21-hydroxylase deficient patients. Arch Dis Child 1998;78:261-263.
31. Volkl TM, Simm D, Beier C, Dorr HG: Obesity among children and adolescents with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Pediatrics 2006;117:e98-e105.
32. Falhammar H, Filipsson H, Holmdahl G, Janson PO, Nordenskjold A, Hagenfeldt K, Thoren M: Metabolic profile and body composition in adult women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Clin Endocrinol Metab 2007;92:110-116.
33. Sartorato P, Zulian E, Benedini S, Mariniello B, Schiavi F, Bilora F, Pozzan G, Greggio N, Pagnan A, Mantero F, Scaroni C: 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 2007;92:1015-1018.
34. Huppert J, Chiodi M, Hillard PJ: Clinical and metabolic findings in adolescent females with hyperandrogenism. J Pediatr Adolesc Gynecol 2004;17:103-108.
35. Golden SH, Ding J, Szklo M, Schmidt MI, Duncan BB, Dobs A: Glucose and insulin components of the metabolic syndrome are associated with hyperandrogenism in post-menopausal women: the atherosclerosis risk in communities study. Am J Epidemiol 2004;160:540-548.
36. 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.
37. Charmandari E, Weise M, Bornstein SR, Eisenhofer GR, Keil MF, Chrousos GP, Merke DP: Children with classic congenital adrenal hyperplasia have elevated serum leptin concentrations and insulin resistance: potential clinical implications J Clin Endocrinol Metab 2002;87:2114-2120.
38. Roche EF, Charmandari E, Dattani MT, Hindmarsh PC: Blood pressure in children and adolescents with congenital adrenal hyperplasia (21-hydroxylase deficiency): a preliminary report. Clin Endocrinol (Oxf) 2003;58:589-596.
39. Volkl TM, Simm D, Dotsch J, Rascher W, Dorr HG: Altered 24-hour blood pressure profiles in children and adolescents with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Clin Endocrinol Metab 2006;91:4888-4895.
40. Mulaikal RM, Migeon CJ, Rock JA: Fertility rates in female patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. N Engl J Med 1987;316:178-182.
41. Premawardhana LD, Hughes IA, Read GF, Scanlon MF: Longer tem outcome in females with congenital adrenal hyperplasia (CAH): the Cardiff experience. Clin Endocrinol (Oxf) 1997;46:327-332.
42. Krone N, Wachter I, Stefanidou M, Roscher AA, Schwarz HP: Mothers with congenital adrenal hyperplasia and their children: outcome of pregnancy, birth and childhood. Clin Endocrinol (Oxf) 2001;55:523-529.
43. Lo JC, Grumbach MM: Pregnancy outcomes in women with congenital virilizing adrenal hyperplasia. Endocrinol Metab Clin North Am 2001;30:207-229.
44. Azziz R, Mulaikal RM, Migeon CJ, Jones HW Jr, Rock JA: Congenital adrenal hyperplasia: long-term results following vaginal reconstruction. Fertil Steril 1986;46:1011-1014.
45. Helleday J, Siwers B, Ritzen EM, Carlstrom K: Subnormal androgen and elevated progesterone levels in women treated for congenital virilizing 21-hydroxylase deficiency. J Clin Endocrinol Metab 1993;76:933-936.
46. Holmes-Walker DJ, Conway GS, Honour JW, Rumsby G, Jacobs HS: Menstrual disturbance and hypersecretion of progesterone in women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Clin Endocrinol (Oxf) 1995;43:291-296.
47. Barnes RB, Rosenfield RL, Ehrmann DA, Cara JF, Cuttler L, Levitsky LL, Rosenthal IM: Ovarian hyperandrogynism as a result of congenital adrenal virilizing disorders: evidence for perinatal masculinization of neuroendocrine function in women. J Clin Endocrinol Metab 1994;79:1328-1333.
48. Stikkelbroeck NM, Beerendonk C, Willemsen W, Schreuders-Bais CA, Feitz W, Rieu P, Hermus A, Otten BJ: The long term outcome of feminizing genital surgery for congenital adrenal hyperplasia: anatomical, functional and cosmetic outcomes, psychosexual development, and satisfaction in adult female patients. J Pediatr Adolesc Gynecol 2003;16:289-296.
49. Alizai NK, Thomas DF, Lilford RJ, Batchelor AG, Johnson N: Feminizing genitoplasty for congenital adrenal hyperplasia: what happens at puberty? J Urol 1999;161:1588-1591.
50. Creighton SM, Minto CL, Steele SJ: Objective cosmetic and anatomical outcomes at adolescence of feminising surgery for ambiguous genitalia done in childhood. Lancet 2001;358:124-125.
51. Ogilvie CM, Crouch NS, Rumsby G, Creighton SM, Liao LM, Conway GS: Congenital adrenal hyperplasia in adults: a review of medical, surgical and psychological issues. Clin Endocrinol (Oxf) 2006;64:2-11.
52. Claahsen-van der Grinten HL, Hulsbergenvan de Kaa CA, Otten BJ: Ovarian adrenal rest tissue in congenital adrenal hyperplasia - a patient report. J Pediatr Endocrinol Metab 2006;19:177-182.
53. Russo G, Paesano P, Taccagni G, Del Maschio A, Chiumello G: Ovarian adrenal-like tissue in congenital adrenal hyperplasia. N Engl J Med 1998;339:853-854.
54. Al Ahmadie HA, Stanek J, Liu J, Mangu PN, Niemann T, Young RH: Ovarian 'tumor' of the adrenogenital syndrome - the first reported case. Am J Surg Pathol 2001;25:1443-1450.
55. Stikkelbroeck NM, Hermus A, Schouten D, Suliman H, Jager G, Braat D, Otten BJ: Prevalence of ovarian adrenal rest tumours and polycystic ovaries in females with congenital adrenal hyperplasia: results of ultrasonography and MR imaging. Eur Radiol 2004;14:1802-1806.
56. Hughes IA: Congenital adrenal hyperplasia: 21-hydroxylase deficiency in the newborn and during infancy. Semin Reprod Med 2002;20:229-242.
57. Forest MG, Tardy V, Nicolino M, David M, Morel Y: 21-Hydroxylase deficiency: an exemplary model of the contribution of molecular biology in the understanding and management of the disease. Ann Endocrinol (Paris) 2005;66:225-232.
58. New MI, Carlson A, Obeid J, Marshall I, Cabrera MS, Goseco A, Lin-Su K, Putnam AS, Wei JQ, Wilson RC: Prenatal diagnosis for congenital adrenal hyperplasia in 532 pregnancies. J Clin Endocrinol Metab 2001;86:5651-5657.
59. Cabrera MS, Vogiatzi MG, New MI: Long term outcome in adult males with classic congenital adrenal hyperplasia . J Clin Endocrinol Metab 2001;86:3070-3078.
60. Stikkelbroeck N, Otten BJ, Pasic A, Jager GJ, Sweep C, Noordam K, Hermus AR: High prevalence of testicular adrenal rest tumors, impaired spermatogenesis, and Leydig cell failure in adolescent and adult males with congenital adrenal hyperplasia. J Clin Endocrinol Metab 2001;86:5721-5728.
61. Blumberg-Tick J, Boudou P, Nahoul K, Schaison G: Testicular tumors in congenital adrenal hyperplasia: steroid measurements from adrenal and spermatic veins. J Clin Endocrinol Metab 1991;73:1129-1133.
62. Walker BR, Skoog SJ, Winslow BH, Canning DA, Tank ES: Testis sparing surgery for steroid unresponsive testicular tumors of the adrenogenital syndrome. J Urol 1997;157:1460-1463.
63. Claahsen-van der Grinten HL, Otten BJ, Takahashi S, Meuleman EJ, Hulsbergen-van de Kaa C, Sweep FC, Hermus AR: Testicular adrenal rest tumours in adult males with congenital adrenal hyperplasia: evaluation of pituitary-gonadal function before and after successful testis-sparing surgery in 8 patients. J Clin Endocrinol Metab 2007;92:612.
64. Bachelot A, Chanson P, Rocher L, Salenave S, Laborde K, Kuttenn F, Morel Y, Touraine P, Young J: Effects of mitotane on testicular adrenal rest tumors size, sperm count and adrenal steroidogenesis in patients with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. ESPE/LWPES 7th Joint Meeting in Paedriatric Endocrinology. Horm Res 2005;64(suppl 1):42.
65. Stikkelbroeck NM, Suliman HM, Otten BJ, Hermus AR, Blickman JG, Jager GJ: Testicular adrenal rest tumours in postpubertal males with congenital adrenal hyperplasia: sonographic and MR features. Eur Radiol 2003;13:1597-1603.