Genotype and clinical characteristics of Chinese patients with nonclassical steroid 21-hydroxylase deficiency / 中华内分泌代谢杂志

ABSTRACT

Objective To investigate the genotype in Chinese patients with nonclassical 21 hydroxylase deficiency (NC 21OHD). Methods Eight patients with NC 21 OHD, 35 patients with classical one and 20 normal controls were studied as followed CYP21 gene was amplified into fragment 1 (exon1→exon3) and fragment 2 (exon3→exon10) through PCR with specific primers. Second round PCRs were performed using fragment 1 and 2 as template, and PCR products were digested by restrictive endonucleases to analyze mutations by 3% 4% agarose gel electrophoresis. Results (1) The most frequent mutation in 8 cases of Chinese NC 21 OHD was P30L(6/16,37.5%), followed by V281L(4/16,25.0%). NC 21 OHD also carried mutations causing moderate or severe degree of enzymatic compromise, such as i2g (3/16, 18.8%), Q318X and R356W (1/16, 6.3% respectively), and I172N (3/16, 18.8%). (2) In ACTH 1 24 stimulation tests of 8 NC 21 OHD patients, basal 17 OH progesterone level was (23.9?28.4)?g/L and stimulated 17 OH progesterone level was (92.0?83.7)?g/L. (3) Genotype had strong correlation with phenotype in 21 OHD patients. Conclusion (1) As compared with caucasians, the most frequent mutation in Chinese NC 21 OHD is P30L, not V281L. (2) Much more attention should be paid to patients with hyperandrogenism to screen NC 21 OHD.