Long-term outcome of classical 21-hydroxylase deficiency: Diagnosis, complications and quality of life

Acta Paediatrica, International Journal of Paediatrics

Volumn 89, Issue 2, 2000, Pages 183-187

  Jaaskelainen J ^a   Voutilainen, R ^b  

^a KUOPIO UNIVERSITY HOSPITAL   (Finland)

^b NONE

Author keywords

21 hydroxylase deficiency; Complication; Congenital adrenal hyperplasia; Death; Diagnosis; Outcome

Indexed keywords

ADOLESCENT; ARTICLE; CHILD; CONGENITAL ADRENAL HYPERPLASIA; CONTROLLED STUDY; CONVULSION; DEATH; FATIGUE; FEMALE; FINLAND; HORMONE DEFICIENCY; HUMAN; MAJOR CLINICAL STUDY; MALE; NEUROLOGICAL COMPLICATION; PRIORITY JOURNAL; QUALITY OF LIFE; STEROID 21 MONOOXYGENASE DEFICIENCY; TREATMENT OUTCOME;

EID: 0034119405     PISSN: 08035253     EISSN: None     Source Type: Journal    
DOI: 10.1080/080352500750028807     Document Type: Article

References (24)

1. 1. Pang SY, Wallace MA, Hofman L, Thuline HC, Dorche C, Lyon IC, et al. Worldwide experience in newborn screening for classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Pediatrics 1988; 81: 866-74
2. 2. Hughes IA. Congenital adrenal hyperplasia - a continuum of disorders. Lancet 1998; 352: 752-4
3. 3. Jääskeläinen J, Levo A, Voutilainen R, Partanen J. 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 1997; 82: 3293-7
4. 4. Thilen A, Larsson A. Congenital adrenal hyperplasia in Sweden 1969-1986. Prevalence, symptoms and age at diagnosis. Acta Paediatr Scand 1990; 79: 168-75
5. 5. Wilkins L, Lewis RA, Klein R, Rosemberg E. The suppression of androgen secretion by cortisone in a case of congenital adrenal hyperplasia. Bulletin of The Johns Hopkins Hospital 1950; 86: 249-52
6. 6. Klingensmith GJ, Garcia SC, Jones HW Jr, Migeon CJ, Blizzard RM. Glucocorticoid treatment of girls with congenital adrenal hyperplasia: effects on height, sexual maturation, and fertility. J Pediatr 1977; 90: 996-1004
7. 7. Urban MD, Lee PA, Migeon CJ. Adult height and fertility in men with congenital virilizing adrenal hyperplasia. N Engl J Med 1978; 299: 1392-6
8. 8. Jääskeläinen J, Voutilainen R. Growth of patients with 21-hydroxylase deficiency: an analysis of the factors influencing adult height. Pediatr Res 1997; 41: 30-3
9. 9. 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: 178-82
10. 10. Helleday J, Siwers B, Ritzen EM, Carlström K. Subnormal androgen and elevated progesterone levels in women treated for congenital virilizing 21-hydroxylase deficiency. J Clin Endocrinol Metab 1993; 76: 933-6
11. 11. Cameron FJ, Kaymacki 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: 2238-43
12. 12. Girgis R, Winter JSD. 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: 3926-9
13. 13. Jääskeläinen J, Voutilainen R. Bone mineral density in relation to glucocorticoid substitution therapy in adult patients with 21-hydroxylase deficiency. Clin Endocrinol 1996; 45: 707-13
14. 14. Donaldson MCD, Thomas PH, Love JG, Murray GD, McNinch AW, Savage DCL. Presentation, acute illness, and learning difficulties in salt wasting 21-hydroxylase deficiency. Arch Dis Child 1994; 70: 214-8
15. 15. Ehrhardt AA, Evers K, Money J. Influence of androgen and some aspects of sexually dimorphic behavior in women with the late-treated adrenogenital syndrome. Johns Hopkins Med J 1968; 123: 115-22
16. 16. Cornean RE, Hindmarsh PC, Brook CG. Obesity in 21-hydroxylase deficient patients. Arch Dis Child 1998; 78: 261-3
17. 17. Population aged 15 years or over by level of education, age, sex and province at end - 1995. In: Enkama K, Laakso E, editors. Statistical Yearbook of Finland 1997. Helsinki: Statistics Finland, 1997: 446
18. 18. Working statistics 1994-1995. In: Population 1997: 3. Helsinki: Statistics Finland, 1997: 198
19. 18. Working statistics 1994-1995. In: Population 1997: 3. Helsinki: Statistics Finland, 1997: 198
20. 19. Hays RD, Sherbourne CD, Mazel RM. The RAND 36-Item Health Survey 1.0. Health Econ 1993; 2: 217-27
21. 20. Aalto A-M, Aro AR, Teperi J. RAND-36 as a measure of health related quality of life. Reliability, construct validity and population norms in Finnish general population. Helsinki: Stakes, 1999. In Finnish
22. 21. Balsamo A, Cacciari E, Piazzi S, Cassio A, Bozza D, Pirazzoli P, et al. Congenital adrenal hyperplasia: neonatal mass screening compared with clinical diagnosis only in the Emilia-Romagna region of Italy 1980-1995. Pediatrics 1996; 98: 362-7
23. 22. Federman DD. Psychosexual adjustment in congenital adrenal hyperplasia. N Engl J Med 1987; 316: 209-10
24. 23. Kuhnle U, Bullinger M, Schwartz HP, Knorr D. Partnership and sexuality in adult female patients with congenital adrenal hyperplasia. First results of a cross-sectional quality of life evaluation. J Steroid Biochem Mol Biol 1993; 45: 123-6