Journal of the Formosan Medical Association
Volume 109, Issue 2 , Pages 148-155 , February 2010

Clinical Characteristics of Taiwanese Children With Congenital Adrenal Hyperplasia Caused by 21-Hydroxylase Deficiency in the Pre-screening Era

Received 11 February 2009 ,Revised 25 May 2009 ,Accepted 25 June 2009.

References 

  1. Bongiovanni AM , Root AW . The adrenogenital syndrome . N Engl J Med . 1963;268:1283–1289
  2. White PC , New MI , Dupont B . Congenital adrenal hyper-plasia . N Engl J Med . 1987;316:1519–1524 1580-6.
  3. Dupont B , Oberfield SE , Smithwick EM , et al.   Close genetic linkage between HLA and congenital adrenal hyperplasia (21-hydroxylase deficiency) . Lancet . 1977;2:1309–1312
  4. White PC , New MI , Dupont B . HLA-linked congenital adrenal hyperplasia results from a defective gene encoding a cytochrome P-450 specific for steroid 21-hydroxylation . Proc Natl Acad Sci USA . 1984;81:7505–7509
  5. White PC , Vitek A , Dupont B , et al.   Characterization of frequent deletions causing steroid 21-hydroxylase deficiency . Proc Natl Acad Sci USA . 1988;85:4436–4440
  6. Higashi Y , Tanae A , Inoue H , et al.   Aberrant splicing and missense mutations cause steroid 21-hydroxylase [P-450(C21)] deficiency in humans: possible gene conversion products . Proc Natl Acad Sci USA . 1988;85:7486–7490
  7. Amor M , Parker KL , Globerman H , et al.   Mutation in the CYP21B gene (Ile-172-Asn) causes steroid 21-hydroxylase deficiency . Proc Natl Acad Sci USA . 1988;85:1600–1604
  8. Globerman H , Amor M , Parker KL , et al.   Nonsense mutation causing steroid 21-hydroxylase deficiency . J Clin Invest . 1988;82:139–144
  9. Urabe K , Kimura A , Harada F , et al.   Gene conversion in steroid 21-hydroxylase genes . Am J Hum Genet . 1990;46:1178–1186
  10. New MI , Lorenzen F , Lerner AJ , et al.   Genotyping steroid 21-hydroxylase deficiency: hormonal reference data . J Clin Endocrinol Metab . 1983;57:320–326
  11. Tsai WY , Lee JS , Hsiao PH , et al.   Genotype of classic congenital adrenal hyperplasia and the 60-minute adrenocor-ticotropic hormone stimulation test . J Formos Med Assoc . 1995;94:10–13
  12. Pang S , Murphey W , Levine LS , et al.   A pilot newborn screening program for congenital adrenal hyperplasia in Alaska . J Clin Endocrinol Metab . 1982;55:413–420
  13. Chu SY , Tsai WY , Chen LH , et al.   Neonatal screening for congenital adrenal hyperplasia in Taiwan: a pilot study . J Formos Med Assoc . 2002;101:691–694
  14. Schreiner F , Brack C , Salzgeber K , et al.   False negative 17-hydroxyprogesterone screening in children with classical congenital adrenal hyperplasia . Eur J Pediatr . 2008;167:479–481
  15. Greulich WW , Pyle SI . Radiographic Atlas of Skeletal Development of the Hand and Wrist . 2nd ed. Stanford: Stanford University Press; 1959;
  16. Wilson RC , Wei JQ , Cheng KC , et al.   Rapid deoxyribonucleic acid analysis by allele-specific polymerase chain reaction for detection of mutations in the steroid 21-hydroxylase gene . J Clin Endocrinol Metab . 1995;80:1635–1640
  17. Ko TM , Kao CH , Ho HN , et al.   Congenital adrenal hyper-plasia. Molecular characterization . J Reprod Med . 1998;43:379–386
  18. Tung YC , Lee JS , Tsai WY , et al.   Physiological changes of adrenal androgens in childhood . J Formos Med Assoc . 2004;103:921–924
  19. White PC , Speiser PW . Congenital adrenal hyperplasia due to 21-hydroxylase deficiency . Endocr Rev . 2000;21:245–291
  20. Speiser PW , White PC . Congenital adrenal hyperplasia . N Engl J Med . 2003;349:776–788
  21. Lebovitz RM , Pauli RM , Laxova R . Delayed diagnosis in congenital adrenal hyperplasia. Need for newborn screening . Am J Dis Child . 1984;138:571–573
  22. Virdi NK , Rayner PH , Rudd BT , et al.   Should we screen for congenital adrenal hyperplasia? A review of 117 cases . Arch Dis Child . 1987;62:659–662
  23. Thilén A , Larsson A . Congenital adrenal hyperplasia in Sweden 1969-1986. Prevalence, symptoms and age at diagnosis . Acta Paediatr Scand . 1990;79:168–175
  24. Kovács J , Votava F , Heinze G , et al.   Lessons from 30 years of clinical diagnosis and treatment of congenital adrenal hyperplasia in five middle European countries . J Clin Endocrinol Metab . 2001;86:2958–2964
  25. Tsai WY , Hsiao PH , Lee JS . Serum dehydroepiandrosterone sulfate and androstenedione concentrations in children with adrenal disorders . J Formos Med Assoc . 1998;97:135–138
  26. Rösler A , Levine LS , Schneider B , et al.   The interrelationship of sodium balance, plasma renin activity and ACTH in congenital adrenal hyperplasia . J Clin Endocrinol Metab . 1977;45:500–512
  27. Joint LWPES/ESPE CAH Working Group  . Consensus statement on 21-hydroxylase deficiency from the Lawson Wilkins Pediatric Endocrine Society and the European Society for Paediatric Endocrinology . J Clin Endocrinol Metab . 2002;87:4048–4053
  28. Lee HH , Chao HT , Lee YJ , et al.   Identification of four novel mutations in the CYP21 gene in congenital adrenal hyper-plasia in the Chinese . Hum Genet . 1998;103:304–310
  29. Higashi Y , Hiromasa T , Tanae A , et al.   Effects of individual mutations in the P-450 (C21) pseudogene on the P-450 (C21) activity and their distribution in the patient genomes of congenital steroid 21-hydroxylase deficiency . J Biochem . 1991;109:638–644
  30. 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;90:584–595
  31. Krone N , Braun A , Roscher AA , et al.   Predicting phenotype in steroid 21-hydroxylase deficiency? Comprehensive geno-typing in 155 unrelated, well defined patients from southern Germany . J Clin Endocrinol Metab . 2000;85:1059–1065
  32. Dolžan V , Stopar-Obreza M , Žerjav-Tanšek M , et al.   Mutational spectrum of congenital adrenal hyperplasia in Slovenian patients: a novel Ala15Thr mutation and Pro30Leu within a larger gene conversion associated with a severe form of the disease . Eur J Endocrinol . 2003;149:137–144

PII: S0929-6646(10)60035-6

doi: 10.1016/S0929-6646(10)60035-6

Journal of the Formosan Medical Association
Volume 109, Issue 2 , Pages 148-155 , February 2010

Article Tools