title: 17α-HYDROXYLASE/17, 20-LYASE DEFICIENCY: CLINICAL AND MOLECULAR CHARACTERIZATION OF EIGHT CHINESE PATIENTS.
abstract: OBJECTIVE
  17α-hydroxylase/17, 20-lyase deficiency (17OHD) is caused by mutations in the cytochrome P450 17A1 (CYP17A1) gene. To better understand 17OHD, a rare disease, we described the clinical features and performed CYP17A1 gene analysis in 8 affected Chinese patients.
  
  
  METHODS
  Patients with complete (7/8) or partial (1/8) 17OHD were derived from 6 families. The diagnosis was established according to their clinical, biochemical, hormonal, and radiological characteristics. Long-term follow-up of some patients was also designed.
  
  
  RESULTS
  Patients with 17OHD suffered from varying degrees of hypokalemia and hypertension. Symptoms in female patients with partial 17OHD manifested as secondary amenorrhea, recurrent ovarian cysts, elevated estradiol level, and lower follicle-stimulating hormone and luteinizing hormone levels; primary amenorrhea was typical in patients with complete 17OHD. Adrenal masses and decreased bone mineral density (BMD) were discovered in 2 patients, respectively. During long-term follow-up, 4 patients developed low BMD, while 3 individuals underwent respiratory infections and recurrent urinary tract infections. CYP17A1 gene analysis revealed 7 different kinds of mutation, including 1 novel mutation, L266V.
  
  
  CONCLUSIONS
  The clinical characteristics of partial 17OHD were different from those of complete 17OHD. Low BMD and infections were common in patients with 17OHD on long-term steroid treatment. Seven mutations were identified in the CYP17A1 gene, and 1 was novel.
  
  
  BACKGROUND
  ACTH = adrenocorticotropic hormone BMD = bone mineral density CAH = congenital adrenal hyperplasia CT = computed tomography DEXA = dual-energy X-ray absorptiometry DEX = dexamethasone 17OHD = 17α-hydroxylase/17, 20-lyase deficiency.
authors.forename: Chaoming
authors.initials: C
authors.lastname: Wu
authors.forename: Shanshan
authors.initials: S
authors.lastname: Fan
authors.forename: Yanying
authors.initials: Y
authors.lastname: Qian
authors.forename: Yingying
authors.initials: Y
authors.lastname: Zhou
authors.forename: Jian
authors.initials: J
authors.lastname: Jin
authors.forename: Zhijuan
authors.initials: Z
authors.lastname: Dai
authors.forename: Ling
authors.initials: L
authors.lastname: Jiang
mesh_terms: D058489:46, XX Disorders of Sex Development / Q000235:genetics / Q000473:pathology; D000293:Adolescent; D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology; D000324:Adrenocorticotropic Hormone / Q000097:blood; D000328:Adult; D000568:Amenorrhea / Q000235:genetics / Q000473:pathology; D002681:China; D004252:DNA Mutational Analysis; D005260:Female; D005640:Follicle Stimulating Hormone / Q000097:blood; D006061:Gonadal Dysgenesis, 46,XY / Q000235:genetics / Q000473:pathology; D006801:Humans; D013254:Steroid 17-alpha-Hydroxylase / Q000235:genetics*; D055815:Young Adult
chemical_list: D000324:Adrenocorticotropic Hormone; D005640:Follicle Stimulating Hormone; C501892:CYP17A1 protein, human; D013254:Steroid 17-alpha-Hydroxylase