PMID- 7613227 OWN - NLM STAT- MEDLINE DCOM- 19950822 LR - 20161013 IS - 0929-6646 (Print) IS - 0929-6646 (Linking) VI - 94 IP - 1-2 DP - 1995 Jan-Feb TI - Genotype of classic congenital adrenal hyperplasia and the 60-minute adrenocorticotropic hormone stimulation test. PG - 10-3 AB - 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. FAU - Tsai, W Y AU - Tsai WY AD - Department of Pediatrics, College of Medicine, National Taiwan University, Taipei, R.O.C. FAU - Lee, J S AU - Lee JS FAU - Hsiao, P H AU - Hsiao PH FAU - Hsieh, R P AU - Hsieh RP LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - Singapore TA - J Formos Med Assoc JT - Journal of the Formosan Medical Association = Taiwan yi zhi JID - 9214933 RN - 0 (Hydroxyprogesterones) RN - 68-96-2 (17-alpha-Hydroxyprogesterone) RN - 9002-60-2 (Adrenocorticotropic Hormone) SB - IM MH - 17-alpha-Hydroxyprogesterone MH - Adrenal Hyperplasia, Congenital/diagnosis/*genetics MH - *Adrenocorticotropic Hormone MH - Child MH - Female MH - Genotype MH - Heterozygote MH - Homozygote MH - Humans MH - Hydroxyprogesterones/blood MH - Male EDAT- 1995/01/01 00:00 MHDA- 1995/01/01 00:01 CRDT- 1995/01/01 00:00 PHST- 1995/01/01 00:00 [pubmed] PHST- 1995/01/01 00:01 [medline] PHST- 1995/01/01 00:00 [entrez] PST - ppublish SO - J Formos Med Assoc. 1995 Jan-Feb;94(1-2):10-3.