title: Clinical and genetic analyses of a Chinese female with 17α-hydroxylase/17,20-lyase deficiency.
abstract: OBJECTIVE
  17α-Hydroxylase/17,20-lyase deficiency (17OHD) is a rare autosomal recessive disease caused by CYP17 gene mutations. This disease is clinically characterised by hypertension, hypokalaemia, sexual infantilism in females or pseudohermaphroditism in males, and adrenal hyperplasia. This study aims to investigate a rare case of 17OHD accompanied by both cystic ovaries and massive adrenal mass.
  
  
  METHODS
  This study performed clinical, hormonal, radiological and genetic analyses. Blood samples were collected from the patient for the genetic test. Genomic DNA was extracted from peripheral blood leukocytes, and the coding sequence abnormalities of CYP17 were assessed using polymerase chain reaction and direct sequencing analysis.
  
  
  RESULTS
  The genetic analysis of CYP17 revealed compound heterozygous mutations in the individual. One was a mis-sense mutation of c.1226 C > G, which changes codon 409 in exon 7 from proline (CCG) to arginine (CGG). Another was a mutation of p.Val311Asp,fs,330X, which was first reported in a compound heterozygote mutation of Y329fs and V311fs from a Chinese patient.
  
  
  CONCLUSIONS
  This study presented a rare case of 17OHD accompanied by both cystic ovaries and massive adrenal mass. This study obtained significant information on the genotype-phenotype correlation of 17OHD.
authors.affiliation: a Department of Endocrinology, The First Affiliated Hospital of Wenzhou Medical University Wenzhou, Zhejiang People's Republic of China.|b Department of Emergency, The Second Affiliated Hospital of Wenzhou Medical University Wenzhou, Zhejiang People's Republic of China.
authors.forename: Mengte
authors.initials: M
authors.lastname: Shi
authors.affiliation: a Department of Endocrinology, The First Affiliated Hospital of Wenzhou Medical University Wenzhou, Zhejiang People's Republic of China.
authors.forename: Xiaojun
authors.initials: X
authors.lastname: Chen
authors.affiliation: a Department of Endocrinology, The First Affiliated Hospital of Wenzhou Medical University Wenzhou, Zhejiang People's Republic of China.
authors.forename: Qi
authors.initials: Q
authors.lastname: Zhou
authors.affiliation: a Department of Endocrinology, The First Affiliated Hospital of Wenzhou Medical University Wenzhou, Zhejiang People's Republic of China.
authors.forename: Feixia
authors.initials: F
authors.lastname: Shen
mesh_terms: D000311:Adrenal Glands / Q000473:pathology*; D000312:Adrenal Hyperplasia, Congenital / Q000235:genetics* / Q000473:pathology; D002681:China; D005260:Female; D006801:Humans; D009154:Mutation; D010048:Ovarian Cysts / Q000235:genetics* / Q000473:pathology; D010053:Ovary / Q000473:pathology*; D013254:Steroid 17-alpha-Hydroxylase / Q000235:genetics*; D055815:Young Adult
chemical_list: D013254:Steroid 17-alpha-Hydroxylase
keywords: 17α-Hydroxylase/17,20-lyase deficiency; CYP17 gene; adrenal mass; ovarian cysts