Genotype of classic congenital adrenal hyperplasia and the 60-minute adrenocorticotropic hormone stimulation test.
Twelve Taiwanese patients with classic congenital adrenal hyperplasia and 86 family members underwent human leukocyte antigen (HLA) genotyping and the 60-minute adrenocorticotropic hormone (ACTH) stimulation test. The baseline serum 17-hydroxyprogesterone level (mean +/- SEM) before ACTH testing was 1.595 +/- 792 nmol/L in homozygotes, 4.6 +/- 0.5 nmol/L in heterozygotes, and 2.1 +/- 0.8 nmol/L in the unaffected group. The stimulated serum 17-hydroxyprogesterone level (mean +/- SEM) was 1.926 +/- 778 nmol/L in homozygotes, 20.6 +/- 0.9 nmol/L in heterozygotes, and 6.8 +/- 0.6 nmol/L in the unaffected group. There was minimal overlap among the heterozygote and unaffected groups. The 60-minute ACTH stimulation test can provide clinicians with hormonal criteria for the assessment of the genotype of classic 21-hydroxylase deficiency in the Chinese population.
Tsai
W Y
WY
Department of Pediatrics, College of Medicine, National Taiwan University, Taipei, R.O.C.
Lee
J S
JS
Hsiao
P H
PH
Hsieh
R P
RP
D019326:17-alpha-Hydroxyprogesterone; D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis / Q000235:genetics*; D000324:Adrenocorticotropic Hormone; D002648:Child; D005260:Female; D005838:Genotype; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D006908:Hydroxyprogesterones / Q000097:blood; D008297:Male
D006908:Hydroxyprogesterones; D019326:17-alpha-Hydroxyprogesterone; D000324:Adrenocorticotropic Hormone