title: [Clinical and molecular genetic analysis for 7 patients from 5 pedigrees with 17a-hydroxylase/17, 20 lyase deficiency].
abstract: 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.
authors.affiliation: Molecular Medical Center, Shanghai Institute of Endocrinology, the Affiliated Ruijin Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, 200025 PR China.
authors.forename: Bing-li
authors.initials: BL
authors.lastname: Liu
authors.forename: Jie
authors.initials: J
authors.lastname: Qiao
authors.forename: Xia
authors.initials: X
authors.lastname: Chen
authors.forename: Jun
authors.initials: J
authors.lastname: Liang
authors.forename: Chun-lin
authors.initials: CL
authors.lastname: Zuo
authors.forename: Yan-yun
authors.initials: YY
authors.lastname: Gu
authors.forename: Bing
authors.initials: B
authors.lastname: Han
authors.forename: Jing
authors.initials: J
authors.lastname: Gong
authors.forename: Ying
authors.initials: Y
authors.lastname: Ru
authors.forename: Ying-li
authors.initials: YL
authors.lastname: Lu
authors.forename: Wan-ling
authors.initials: WL
authors.lastname: Wu
authors.forename: Ming-dao
authors.initials: MD
authors.lastname: Chen
authors.forename: Huai-dong
authors.initials: HD
authors.lastname: Song
mesh_terms: 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
chemical_list: D013255:Steroid 21-Hydroxylase; D013254:Steroid 17-alpha-Hydroxylase