[Screening 21-hydroxylase deficiency carriers in androgen excess women of Chinese Han nationality].
OBJECTIVE
To gain a primary understanding of the prevalence of 21-hydroxylase deficiency(21-OHD) heterozygote (carrier) among androgen excess women of Chinese Han nationality, compare the molecular genetic changes therein revealed with the results of adrenocorticotropic hormone (ACTH) stimulating test, and assess the carriers' phenotype-genotype correlation.


METHODS
Eighty-two androgen excess cases and 14 healthy women underwent ACTH stimulating test during the follicular phase. Molecular genetic analysis of CYP21 for 9 common mutations was performed with the method of amplification-created restriction sites.


RESULTS
In androgen excess group, the basal level of F0 (P<0.01), as well as basal 17-OHP0 and the ACTH stimulated concentrations of 17-OHP60 were much higher than controls (P<0.01), and there was no obvious discrepancy in F60 (P>0.05). The net increase of 17-OHP and the ratio of net increase of 17-OHP to net increase of F were also higher than controls (P<0.01). No CYP21 gene mutations were found in control group. Four patients of the androgen excess group were identified as heterozygous carriers of CYP21 mutations. The ACTH stimulating test results from gene normal patients and from carriers overlapped to a certain extent.


CONCLUSIONS
Among 82 patients of Chinese Han nationality androgen excess women, 4.9% were 21-OHD heterozygous. The response of serum 17-OHP is not useful for predicting CYP21 gene mutation carrier status. Genotyping is the most reliable method to detect carrier.
Tao
Hong
H
Department of Endocrinology, Peking Union Medical College Hospital, Beijing, 100730 P. R. China. vivientao@yahoo.com
Lu
Zhaolin
Z
Zhang
Bo
B
Wang
Yue
Y
Sun
Meili
M
D000293:Adolescent; D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics*; D000324:Adrenocorticotropic Hormone; D000328:Adult; D044466:Asian People / Q000235:genetics; D002648:Child; D002681:China; D005260:Female; D006580:Genetic Carrier Screening / Q000379:methods; D005838:Genotype; D006801:Humans; D009154:Mutation; D016133:Polymerase Chain Reaction; D013255:Steroid 21-Hydroxylase / Q000235:genetics* / Q000378:metabolism
D000324:Adrenocorticotropic Hormone; D013255:Steroid 21-Hydroxylase