Consensus statement on 21-hydroxylase deficiency from the European Society for Paediatric Endocrinology and the Lawson Wilkins Pediatric Endocrine Society

Hormone Research

Volumn 58, Issue 4, 2002, Pages 188-195

  Clayton, Peter E ^a   Miller, Walter L ^b   Oberfield, Sharon E ^c   Ritzén, E Martin ^d   Sippell, Wolfgang G ^e   Speiser, Phyllis W ^f   Hintz, Raymond L ^g   Savage, Martin O ^h  

^a ROYAL MANCHESTER CHILDREN S HOSPITAL   (United Kingdom)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c Och Spine at New York Presbyterian Hospitals   (United States)

^d KAROLINSKA INSTITUTE   (Sweden)

^e UNIVERSITY HOSPITAL SCHLESWIG HOLSTEIN   (Germany)

^f NEW YORK UNIVERSITY   (United States)

^g LWPES   (United States)

^h ST BARTHOLOMEW S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

11BETA HYDROXYSTEROID DEHYDROGENASE; ADRENALIN; DEXAMETHASONE; FLUDROCORTISONE; GLUCOCORTICOID; GONADORELIN AGONIST; GROWTH HORMONE; HYDROCORTISONE; PRASTERONE; PREDNISOLONE; PREDNISONE; STEROID 21 MONOOXYGENASE;

ADRENALECTOMY; ARTICLE; CONGENITAL ADRENAL HYPERPLASIA; ENDOCRINOLOGY; GENITAL SYSTEM; HUMAN; MOLECULAR GENETICS; MORTALITY; NEWBORN SCREENING; PEDIATRICS; PREMATURITY; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; REPRODUCTION; VIRILIZATION;

ADOLESCENT; ADRENAL HYPERPLASIA, CONGENITAL; EUROPE; FETAL DISEASES; GENITALIA; GLUCOCORTICOIDS; HUMANS; INFANT, NEWBORN; NEONATAL SCREENING; PRENATAL DIAGNOSIS; STEROID 21-HYDROXYLASE;

EID: 18644377699     PISSN: 03010163     EISSN: None     Source Type: Journal    
DOI: 10.1159/000065490     Document Type: Article

References (39)

1. Working Group on Neonatal Screening of the European Society for Paediatric Endocrinology: Procedure for neonatal screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Horm Res 2001;55:201-205.
2. Pass KA, Lane PA, Fernhoff PM, Hinton CF, Panny SR, Parks JS, Pelias MZ, Rhead WJ, Ross SI, Wethers DL, Elsas LJ: 2nd U.S. newborn screening system guidelines. II. Follow-up of children, diagnosis, management, and evaluation. Statement of the Council of Regional Networks for Genetic Services (CORN). J Pediatr 2000;137:S1-S46.
3. Therrell BL: Newborn screening for congenital adrenal hyperplasia. Endocrinol Metab Clin North Am 2001;30:15-30.
4. Honour JW, Torresani T: Evaluation of neonatal screening for congenital adrenal hyperplasia. Horm Res 2001;55:206-211.
5. Morel Y, Miller WL: Clinical and molecular genetics of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Adv Hum Genet 1991;20:1-68.
6. White PC, Speiser PW: Congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Endocr Rev 2000;21:245-291.
7. Forest MG, Morel Y, David M: Prenatal treatment of congenital adrenal hyperplasia. Trends Endocrinol Metab 1998;9:284-289.
8. Miller WL: Prenatal treatment of congenital adreal hyperplasia: A promising experimental therapy of unproven safety. Trends Endocrinol Metab 1998;9:290-293.
9. 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.
10. Partsch CJ, Sippell WG, MacKenzie IZ, Aynsley-Green A: The steroid hormonal milieu of the undisturbed human fetus and mother at 16-20 weeks gestation. J Clin Endocrinol Metab 1991;73:969-974.
11. Kay HH, Bird IM, Coe CL, Dudley DJ: Antenatal steroid treatment and adverse fetal effects: What is the evidence? J Soc Gynecol Invest 2000;7:269-278.
12. Rink RC, Adams MC: Feminizing genitoplasty: State of the art. World J Urol 1998;16:212-218.
13. Schnitzer JJ, Donahoe PK: Surgical treatment of congenital adrenal hyperplasia. Endocrinol Metab Clin North Am 2001;30:137-154.
14. Hutson JM, Voigt RW, Luthra M, Kelly JH, Fowler R: Girth-reduction clitoropasty - a new technique: Experience with 37 patients. Pediatr Surg Int 1991;6:336-340.
15. Baskin LS, Erol A, Li YW, Liu WH, Kurzrock E, Cunha GR: Anatomical studies of the human clitoris. J Urol 1999;162:1015-1020
16. Deleted in proof
17. Kuhnle U, Bullinger M, Schwarz HP: The quality of life in adult female patients with congenital adrenal hyperplasia: A comprehensive study of the impact of genital malformations. Eur J Pediatr 1995;154:708-716.
18. Meyer-Bahlburg HFL: Gender and sexuality in classical congenital adrenal hyperplasia. Endocrinol Metab Clin North Am 2001;30:155-171.
19. Berenbaum SA: Prenatal androgens and sexual differentiation of behavior; in Eugster E, Pescovitz OH (eds): Developmental Endocrinology: From Research to Clinical Practice. Totowa, NJ, Humana Press, 2002, pp 293-311.
20. Merke DP, Cho D, Anton Calis K, Keil MF, Chrousos GP: Hydrocortisone suspension and hydrocortisone tablets are not bioequivalent in the treatment of children with congenital adrenal hyperplasia. J Clin Endocrinol Metab 2001;86:441-445.
21. Nordenstrom A, Marcus C, Axelson M, Wedell A, Ritzen EM: Failure of cortisone acetate treatment in congenital adrenal hyperplasia because of defective 11β-hydroxysteroid dehydrogenase reductase activity. J Clin Endocrinol Metab 1999;84:1210-1213.
22. Jansen M, Wit JM, van den Brande JL: Reinstitution of mineralocorticoid therapy in congenital adrenal hyperplasia. Effects on control and growth. Acta Paediatr Scand 1981;70:229-233.
23. Mullis PE, Hindmarsch PC, Brook CG: Sodium chloride supplement at diagnosis and during infancy in children with salt-losing 21-hydroxylase deficiency. Eur J Pediatr 1990;150:22-25.
24. Charmandari E, Lichtarowicz-Krynska EJ, Hindmarsch PC, Johnston A, Aynsley-Green A, Brook CG: Congenital adrenal hyperplasia: Management during critical illness. Arch Dis Child 2001;85:26-28.
25. Premawardhana LD, Hughes IA, Read GF, Scanlon MF: Longer term outcome in females with congenital adrenal hyperplasia (CAH): The Cardiff experience. Clin Endocrinol 1997;46:327-332.
26. Stikkelbroeck NMML, Otten BJ, Pasic A, Jager GJ, Sweep CGJ, Nordam K, Hermus ARMM: 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.
27. Avila NA, Shawker TH, Jones JV, Cutler GB, Merke DP: Testicular adrenal rest tisue in congenital adrenal hyperplasia: Serial sonographic and clinical findings. Am J Radiol 1999;172:1235-1238.
28. Meyer-Bahlburg HFL: What causes low rates of childbearing in congenital adrenal hyperplasia? J Clin Endocrinol Metab 1999;84:1844-1847.
29. Miller WL: Congenital adrenal hyperplasia in the adult patient. Adv Internal Med 1999;44:155-173.
30. Section on Endocrinology and Committee on Genetics of the American Academy of Pediatrics Technical report: Congenital adrenal hyperplasia. Pediatrics 2000;106:1511-1518.
31. Lo JC, Grumbach MM: Pregnancy outcomes in women with congenital virilizing adrenal hyperplasia. Endocrinol Metab Clin North Am 2001;30:207-229.
32. Van Wyk JJ, Gunther DF, Ritzen EM, Wedell A, Cutler GB Jr, Migeon CJ, New MI: The use of adrenalectomy as a treatment for congenital adrenal hyperplasia. J Clin Endocrinol Metab 1996;81:3180-3190.
33. Meyers RL, Grua JR: Bilateral laparoscopic adrenalectomy: A new treatment for difficult cases of congenital adrenal hyperplasia. J Pediatr Surg 2000;35:1586-1590.
34. Merke DP, Keil M, Jones JV, Fields J, Hill S, Cutler GB Jr: Flutamide, testolactone, and reduced hydrocortisone dose maintain normal growth velocity and bone maturation despite elevated androgen levels in children with congenital adrenal hyperplasia. J Clin Endocrinol Metab 2000;85:1114-1120.
35. Merke DP, Chrousos GP, Eisenhofer G, Weise M, Keil MF, Rogol AD, Van Wyk JJ, Bornstein SR: Adrenomedullary displasia and hypofunction in patients with classic 21-hydroxylase deficiency. N Engl J Med 2000;343:1362-1368.
36. Arlt W, Callies F, van Vlijmen JC, Koehler I, Reincke M, Bidlingmaier M, Huebler D, Oettel M, Ernst M, Schulte HM, Allolio B: Dehydroepiandrosterone replacement in women with adrenal insufficiency. N Engl J Med 1999;341:1013-1020.
37. Walker BR, Stewart PM: Carbenoxolone effects in congenital adrenal hyperplasia. Clin Endocrinol 2000;52:246-248.
38. Eugster EA, Dimeglio LA, Wright JC, Freidenberg GR, Seshadri R, Pescovitz OH: Height outcome in congenital adrenal hyperplasia caused by 21-hydroxylase deficiency: A meta-analysis. J Pediatr 2001;138:26-32.
39. Quintos JBQ, Vogiatzi MG, Harbison MD, New MI: Growth hormone therapy alone or in combination with gonadotropin-releasing hormone analogue therapy to improbe the height deficit in children with congenital adrenal hyperplasia. J Clin Endocrinol Metab 2001;86:1511-1517.