title: P450C17 (CYP17) deficiency in native Mexican patient with a novel CYP17A1 mutation.
abstract: OBJECTIVE
  To report a case of congenital adrenal hyperplasia due to CYP17 deficiency caused by a novel CYP17A1 mutation.
  
  
  METHODS
  We describe the clinical, biochemical, genetic, and radiologic findings of a sporadic case of congenital adrenal hyperplasia due to CYP17 deficiency in a young patient.
  
  
  RESULTS
  An 18-year-old woman presented with hypogonadism and progressive muscle weakness and had not yet undergone thelarche, adrenarche, and menarche. Blood pressure was 155/90 mm Hg, she had no axillary or pubic hair, breasts were Tanner stage 1, and female genitalia were Tanner stage 1. Further laboratory studies showed hypokalemia with metabolic alkalosis, hypergonadotropic hypogonadism, a 46, XY karyotype, a low 17-hydroxyprogesterone level, and a high deoxycorticosterone level. Sequencing of the CYP17A1 gene demonstrated homozygous transversion of cytosine to adenine (TCA→TAA) in exon 5, which causes a premature stop codon at position 288 (Ser288X). Imaging studies showed large adrenal glands, cystic picture in the inguinal canal (suggestive of intra-abdominal testes), and absent Müllerian structures. Exploratory laparotomy was performed to remove the remaining gonads, and the final histologic examination showed atrophic testes.
  
  
  CONCLUSIONS
  Congenital adrenal hyperplasia due to CYP17 deficiency should be suspected in patients with hypertension, hypokalemic alkalosis, and hypogonadism. In such cases, it is mandatory to assess the karyotype and perform hormonal and molecular genetic studies.
authors.affiliation: Department of Endocrinology, National Autonomous of Mexico, Mexico City, Mexico. edurandr@gmail.com
authors.forename: Edgar G Durán
authors.initials: EG
authors.lastname: Pérez
authors.forename: Lourdes González
authors.initials: LG
authors.lastname: del Rincón
authors.forename: Oscar T Moreno
authors.initials: OT
authors.lastname: Loza
authors.forename: Monica D Martín
authors.initials: MD
authors.lastname: de Saro
authors.forename: Antonio Segovia
authors.initials: AS
authors.lastname: Palomo
authors.forename: Valentín Sánchez
authors.initials: VS
authors.lastname: Pedraza
authors.forename: Susana Kofman
authors.initials: SK
authors.lastname: Alfaro
authors.forename: Gloria E Queipo
authors.initials: GE
authors.lastname: García
mesh_terms: D000293:Adolescent; D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics / Q000601:surgery; D005260:Female; D006801:Humans; D007621:Karyotyping; D009154:Mutation; D011859:Radiography; D013254:Steroid 17-alpha-Hydroxylase / Q000235:genetics*
chemical_list: C501892:CYP17A1 protein, human; D013254:Steroid 17-alpha-Hydroxylase