Chonnam Med J CMJ Chonnam Medical Journal 0377-9564 Chonnam National University Medical School 10.4068/cmj.2009.45.2.105 Original Article The Clinical Characteristics of Congenital Adrenal Hyperplasia Park Sun Ju Seo Ji Yeon Kim Chan Jong Woo Young Jong Department of Pediatrics, Chonnam National University Medical School, Gwangju, Korea. Corresponding author (cjkim@jnu.ac.kr) 08 2009 12 08 2009 45 2 105 110 24 07 2009 Copyright © 2009 Chonnam National University Medical School 2009

This study was performed to investigate the clinical features of congenital adrenal hyperplasia (CAH) with steroid 21-hydroxylase deficiency and to compare the salt-wasting (SW) type with the simple virilizing (SV) type. Twenty-seven patients (15 boys, 12 girls) who received a diagnosis of CAH at Chonnam University Hospital from May 1998 to May 2008 were enrolled in the present study. The patients' medical records were analyzed retrospectively. Age and clinical symptoms at diagnosis, ratio of bone age to chronologic age, body mass index (BMI), and treatment dose of hydrocortisone were reviewed. Of the 27 patients, 16 patients had SW type and 11 patients had SV type. The SV patients were significantly older (p<0.05) at the time of diagnosis (45.1±40.4 months) than were the SW patients (1.8±4.4 months). In the SW patients, the initial ratio of bone age to chronologic age was 1.10±0.15 in the boys and 1.52±0.74 in the girls, and the final BMI was 16.6±2.81 kg/m2 in the boys and 17.4±4.21 kg/m2 in the girls. In the SV patients, the initial ratio of bone age to chronologic age was 1.26±0.38 in the boys and 1.45±0.31 in the girls, and the final BMI was 17.5±2.62 kg/m2 in the boys and 19.6±1.80 kg/m2 in the girls. The treatment dose of hydrocortisone was 18.4±6.54 mg/m2/day in the SW patients and 16.1±5.50 mg/m2/day in the SV patients. The ratio of bone age to chronological age, BMI, and dose of hydrocortisone were not significantly different between the SV and SW patients.

 Adrenal hyperplasia, congenital Steroid 21-hydroxylase Speiser PW White PC Congenital adrenal hyperplasia N Engl J Med 2003 349 776 788 Pang S Wallace MA Hofman L Thuline HC Dorche C Lyon IC Worldwide experience in newborn screening for classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency Pediatrics 1998 81 866 874 Lee HJ Moon HR Seventeen years experience on inborn errors of metabolism; a study for future development of inborn errors of metabolism in Korea J Korean Pediatr Soc 1990 33 1031 1036 Lee H CYP21 mutations and congenital adrenal hyperplasia Clin Genet 2001 59 293 301 Kim HS Congenital adrenal hyperplasia in Korea J Korean Soc Pediatr Endocrinol 2005 10 132 137 Bickel H Bickel H Guthrie R Hammerson G Rationale of neonatal screening for inborn errors of metabolism Neonatal screening for inborn errors of metabolism 1980 Springer Verlag 1 6 Lee DH Newborn screening of inherited metabolic disease in Korea Korean J Pediatr 2006 49 1125 1139 Votava F Török D Kovács J Möslinger D Baumgartner-Parzer SM Sólyom J Estimation of the false-negative rate in newborn screening for congenital adrenal hyperplasia Eur J Endocrinol 2005 152 869 874 New MI Gertner JM Speiser PW Del Balzo P Growth and final height in classical and nonclassical 21-hydroxylase deficiency J Endocrinol Invest 1989 12 Suppl 3 91 95 Raiti S Newns GH Congenital adrenal hyperplasia Arch Dis Child 1964 39 324 333 Kaplan SA Diseases of the adrenal cortex. II. Congenital adrenal hyperplasia Pediatr Clin North Am 1979 26 77 89 Soliman AT AlLamki M AlSalmi I Asfour M Congenital adrenal hyperplasia complicated by central precocious puberty: linear growth during infancy and treatment with gonadotropin-releasing hormone analog Metabolism 1997 46 513 517 Yi KH Effect on final height of gonadotropin-releasing hormone agonist (GnRHa) in children with congenital adrenal hyperplasia J Korean Soc Pediatr Endocrinol 2005 10 50 56 Cornean RE Hindmarsh PC Brook CG Obesity in 21-hydroxylase deficient patients Arch Dis Child 1998 78 261 263 White PC New MI Dupont B Structure of human steroid 21-hydroxylase genes Proc Natl Acad Sci USA 1986 83 5111 5115 Higashi Y Yoshioka H Yamane M Gotoh O Fujii-Kuriyama Y Complete nucleotide sequence of two steroid 21-hydroxylase genes tandemly arrranged in human chromosome: a pseudogene and a genuine gene Proc Natl Acad Sci USA 1986 83 2841 2845 Rodrigues NR Dunham I Yu CY Carroll MC Porter RR Campbell RD Molecular characterization of the HLA linked steroid 21-hydroxylase B gene from an individual with congenital adrenal hyperplasia EMBO J 1987 6 1653 1661 Wedell A Molecular genetics of congenital adrenal hyperplasia (21-hydroxylase deficiency): implications for diagnosis, prognosis and treatment Acta Pediatr 1998 87 159 164 Ko JM Chio JH Kim GH Yoo HW Genotype of steroid 21-hydroxylase gene and clinical characteristics in patients with congenital adrenal hyperplasia 21-Hydroxylase deficiency J Korean Soc Pediatr Endocrinol 2005 10 57 63 Jin DK Kim JS Song SM Park SJ Hwang HZ On HY A study on the relationship between genotype and phenotype in Korean patients with congenital adrenogenital syndrome caused by 21-hydroxylase deficiency J Korean Soc Endocrinol 2000 15 237 247 Wilkins L Lewis RA Klein R Rosemberg E The suppression of androgen secretion by cortisone in a case of congenital adrenal hyperplasia Bull Johns Hopkins Hosp 1950 86 249 252 Bartter FC Forbes AP Leaf A Congenital adrenal hyperplasia associated with the adrenogenital syndrome: an attempt to correct its disordered hormonal pattern J Clin Invest 1950 29 797 Joint LWPES/ESPE CAH Working Group 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

Basal characteristics of congenital adrenal hyperplasia patients

No., number; NST, neonatal screening test.

Changes of ratio of bone age to chronologic age and body mass index

BA/CA, the ratio of bone age to chronologic age; BMI, body mass index.

Changes of hormonal status

17-OHP, 17-hydroxyprogesterone; ACTH, adrenocorticotrophic hormone.