ABSTRACT
Objective To investigate the molecular defects of CYPl7A1 gene in a pedigree with two 46,XY patients suffering from 17α-hydroxylase deficiency (17-OHD) and explore the steroid biosynthetic difference in carriers of 17-OHD before and after adrenocorticotrophic hormone (ACTH) test.Methods Clinical data and hormone profiles were collected from the members of the pedigree.CYPl7A1 genotyping was performed in the patients and family members with PCR-direct sequencing.A short ACTH test was evaluated in some cases.Results The CYP17 genes of the patients were proved to hold a homozygous mutation with a base deletion and a base transversion (TAC/AA) in exon 6,which produced a missense mutation of Tyr→ Lvs at codon 329 and changed the open reading frame following this codon.The hormone response of the carriers after ACTH stimulation was abnormal between the patients and normal controls.Conclusion 17-OHD in this family was caused by CYP17A1 mutation (TAC329AA):some hormonal response to ACTH stimulation Was abnormal in carriers.
ABSTRACT
300mg/d)were randomly divided into two groups:①Val group consisted of 20 cases(8M/12F),treated with Val 80~160mg/day.②Ben group 20 cases(9M/11F),treated with Ben 10~30mg/d.A goal of blood pressure(BP)control was 130/80mmHg or less in the two groups.Treatment period lasted for 8 weeks.The levels of UAE were measured by radioimmunoassay before and after treatment.We also measured Bp,fasting blood glucose,glycosylated hemoglobulin.Results After treatment of 8 weeks,Bp values in the two groups declined significantly compared with the pretreatment levels(P0.05).The levels of UAE in the two groups decreased significantly in comparison with pretreatment(P0.05).Val group seems to have lower adverse drug reaction rate.Conclusions The results indicate that Val has similar effects on reducing UAE in DN compared with Ben.And Val has fewer side effects.