title: [Clinical study on 48 cases with complete 17α-hydroxylase deficiency].
abstract: OBJECTIVE
  To investigate efficient diagnosis and treatment of 17α-hydroxylase (17OHD) deficiency by summarizing clinical characteristics of those patients.
  
  
  METHODS
  From January 1983 to January 2010, 48 cases with 17OHD in Peking Union Medical College Hospital were studied retrospectively.
  
  
  RESULTS
  Among 48 patients with 17OHD, karyotype analysis showed, 12 cases with 46, XX and 36 cases with 46, XY. The 46, XX karyotype and 46, XY karyotype with complete 17OHD had typical clinical presentation of amenorrhea[12/12, 100% (36/36)], no typical spontaneous puberty [12/12, 13.9% (5/36)], Hypertension [11/12, 100% (36/36)], hypokalemia [K(+): (2.6 ± 0.7), (2.8 ± 0.7) mmol/L], hypergonadotropin [follicle-stimulatinghormone (FSH): (51 ± 35), (79 ± 46) U/L, luteinizing hormone (LH): (27 ± 14), (49 ± 37) U/L], impaired production of sex hormones [testosterone (T): 0.003, 0.005 nmol/L; estradiol (E(2)): 26.86, 10.64 pmol/L], hyper-progesterone[ (P): (32 ± 15), (29 ± 23) nmol/L], impaired production of 17α-hydroxyprogesterone (17α-OHP)[(2.5 ± 1.1), (2.4 ± 1.7) nmol/L], ACTH hypersecreation (91.8, 114.0 pmol/L). ACTH stimulating test did not elevated in 17α-OHP and cortisol.
  
  
  CONCLUSIONS
  When patients with elevated basal serum levels of progesterone higher than that of ovulation period in addition to clinical symptoms, examination about 17OHD should be warranted.
authors.affiliation: Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing 100730, China.
authors.forename: Han-bi
authors.initials: HB
authors.lastname: Wang
authors.forename: Qin-jie
authors.initials: QJ
authors.lastname: Tian
authors.forename: Ai-jun
authors.initials: AJ
authors.lastname: Sun
authors.forename: Feng-xia
authors.initials: FX
authors.lastname: Yao
authors.forename: Xiao-di
authors.initials: XD
authors.lastname: Kang
authors.forename: Ying
authors.initials: Y
authors.lastname: Zhang
authors.forename: Rong
authors.initials: R
authors.lastname: Chen
mesh_terms: D019326:17-alpha-Hydroxyprogesterone / Q000097:blood*; D000293:Adolescent; D000312:Adrenal Hyperplasia, Congenital / Q000097:blood / Q000175:diagnosis*; D000324:Adrenocorticotropic Hormone / Q000097:blood; D000328:Adult; D003937:Diagnosis, Differential; D004958:Estradiol / Q000097:blood; D005260:Female; D005640:Follicle Stimulating Hormone / Q000097:blood; D006801:Humans; D012189:Retrospective Studies; D013254:Steroid 17-alpha-Hydroxylase / Q000235:genetics* / Q000378:metabolism; D013739:Testosterone / Q000097:blood; D055815:Young Adult
chemical_list: D013739:Testosterone; D004958:Estradiol; D019326:17-alpha-Hydroxyprogesterone; D000324:Adrenocorticotropic Hormone; D005640:Follicle Stimulating Hormone; D013254:Steroid 17-alpha-Hydroxylase