Background: Impaired synthesis of adrenal hormones because of steroid 21 - hydroxylase deficiency is one of the common inborn errors of metabolism. The disease is caused by mutations in CYP21 gene and inherited as an autosomal recessive trait.Objectives: This study aims to detect some mutations in CYP21 gene as well as study the relationship between genotype - phenotype and the carriers in patients' family. Subjects and method:43 patients with classic 21 - hydroxylase deficiency and 10 patients' parents were analysed CYP21 gene by using PCR techniques with specific primer pairs. The data was collected and analysed by EpiInfo 6.04 and other common medical statistic method. Results:Among 43 children patients of congenital adrenal hyperplasia due to 21-hydroxylase deficiency, the rate between male and female was equavalent. The most frequent mutation causing steroid 21 - hydroxylase deficiency was deletion 8bp of exon 3. Then, was splicing site mutation of intron 2. The mutation of exon 1 (Pr030Leu) was also detected. About genotype - phenotype relationship, nearly all deletions 8bp (80%) and 12 splicing mutations (87.5%) were associated with salt - wasting phenotype. Conclusion: Parents were the carriers corresponding to the autosomal recessive rule.
Adrenal Hyperplasia ; Congenital/ diagnosis ; pathology ; therapy ; Steroid 21-Hydroxylase/ diagnostic use

A single measurement of serum 17alpha-hydroxyprogesterone (17OHP) level can be unreliable because of its marked diurnal variation. We investigated the relationship of serum level of 17OHP with that of androstenedione (AD), which shows a smaller diurnal variation. And we tested whether the responses of these two hormones to low-dose ACTH stimulation are correlated in patients with 21-hydroxylase deficiency. Baseline serum 17OHP and AD levels were measured in 87 patients and a low-dose ACTH stimulation test was performed in 41 patients. The basal 17OHP level correlated positively with the basal AD level independently of sex, type of 21-hydroxylase deficiency, and the time of day of blood sampling (n = 87, R2 = 0.75, P < 0.001). The area under the curve of 17OHP and AD correlated positively with their respective basal levels. The fold-change increase in 17OHP after ACTH injection correlated negatively with the basal 17OHP level, but that of AD did not correlate with the basal AD level. The random serum 17OHP level, used in the clinic, is a reliable guide and a low-dose ACTH stimulation test provides no extra benefit for assessing the treatment adequacy in patients with 21-hydroxylase deficiency.
17-alpha-Hydroxyprogesterone/*blood ; Adolescent ; Adrenal Hyperplasia, Congenital/*diagnosis/drug therapy ; Adrenocorticotropic Hormone/*diagnostic use ; Androstenedione/*blood ; Circadian Rhythm ; Female ; Humans ; Male ; Steroid 21-Hydroxylase/metabolism ; Young Adult