[Clinical and molecular genetic analysis for 7 patients from 5 pedigrees with 17a-hydroxylase/17, 20 lyase deficiency].
OBJECTIVE
To investigate the clinical and genetic characteristics of 7 patients from 5 families with 17a-hydroxylase/17,20 lyase deficiency (17OHD) and the CYP17A1 mutation in Chinese.


METHODS
Clinical features and laboratory data were collected from 5 families with 17OHD. PCR direct sequencing was performed to screen the mutation of CYP17A1 gene of the patients. Polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP) and sequencing were performed to screen the mutations of CYP17A1 gene in 288 healthy individuals from Shandong province.


RESULTS
Seven patients (5 of them were 46,XX; 2 were 46,XY) had typical clinical presentation of sexual infantilism, hypertension and hypokalemia. Hormone profile indicated decreased plasma cortisol and sex hormones, and elevated blood adrenocorticotrophic hormone (ACTH). TAC329AA and H373L in exon 6 and D487_F489del in exon 8 were identified from the patients. One heterozygote for D487_F489del was identified in 288 healthy controls.


CONCLUSIONS
The TAC329AA and D487_F489del of the CYP17A1 gene were the most frequent mutations in Chinese with 17OHD.There might be certain frequency of heterozygotes for D487_F489del in Chinese population.
Liu
Bing-li
BL
Molecular Medical Center, Shanghai Institute of Endocrinology, the Affiliated Ruijin Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, 200025 PR China.
Qiao
Jie
J
Chen
Xia
X
Liang
Jun
J
Zuo
Chun-lin
CL
Gu
Yan-yun
YY
Han
Bing
B
Gong
Jing
J
Ru
Ying
Y
Lu
Ying-li
YL
Wu
Wan-ling
WL
Chen
Ming-dao
MD
Song
Huai-dong
HD
D000293:Adolescent; D000328:Adult; D044466:Asian People / Q000235:genetics; D005091:Exons; D005260:Female; D005787:Gene Frequency; D006801:Humans; D006973:Hypertension / Q000235:genetics; D007008:Hypokalemia / Q000235:genetics; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D017422:Sequence Analysis, DNA; D050035:Sexual Infantilism / Q000235:genetics / Q000378:metabolism; D013254:Steroid 17-alpha-Hydroxylase / Q000235:genetics / Q000378:metabolism*; D013255:Steroid 21-Hydroxylase / Q000235:genetics / Q000378:metabolism*; D055815:Young Adult
D013255:Steroid 21-Hydroxylase; D013254:Steroid 17-alpha-Hydroxylase