[A clinical and genetic analysis of a pedigree with two 46,XY patients suffering from 17alpha-hydroxylase deficiency].
OBJECTIVE
To investigate the molecular defects of CYP17A1 gene in a pedigree with two 46,XY patients suffering from 17alpha-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. CYP17A1 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-->Lys 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.


CONCLUSIONS
17-OHD in this family was caused by CYP17A1 mutation (TAC329AA); some hormonal response to ACTH stimulation was abnormal in carriers.
Liang
Jun
J
State Key Laboratory of Medical Genomics, Molecular Medical Center, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Qiao
Jie
J
Chen
Xia
X
Wu
Qing-Qiang
QQ
Heng
Hao
H
Zhang
Tong
T
Zhao
Jia-Jun
JJ
Song
Huai-Dong
HD
D000293:Adolescent; D000312:Adrenal Hyperplasia, Congenital / Q000150:complications / Q000235:genetics*; D005091:Exons; D005260:Female; D006061:Gonadal Dysgenesis, 46,XY / Q000150:complications; D028922:Holocarboxylase Synthetase Deficiency / Q000235:genetics*; D006801:Humans; D009154:Mutation; D010375:Pedigree; D013254:Steroid 17-alpha-Hydroxylase / Q000235:genetics*
D013254:Steroid 17-alpha-Hydroxylase