title: Neonatal screening for congenital adrenal hyperplasia: transitory elevation of 17-hydroxyprogesterone.
abstract: OBJECTIVE
  The aim of the study was to identify patients with transitory elevation (TE) of 17-hydroxyprogesterone (17-OHP) using neonatal screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21-OHD) and to compare them with patients with 21-OHD.
  
  
  METHODS
  This was a retrospective study of patients with high 17-OHP levels detected during newborn screening in Madrid, Spain.
  
  
  RESULTS
  17-OHP levels were significantly higher in the 33 21-OHD patients, who tended to present hyponatraemia and hyperkalemia. The TE-17-OHP group was characterized by normal initial physical examination (88.8% vs. 39.4%), lower gestational age and a higher number of stressful perinatal factors. 17-OHP levels decreased spontaneously in this group. Molecular diagnosis allowed us to discard the most frequent mutations associated with 21-OHD.
  
  
  CONCLUSIONS
  Newborns with slightly increased 17-OHP levels and normal results for physical examination, acid-base equilibrium, glycemia, electrolytes and perinatal stress factors should be carefully evaluated. Decisions on treatment should be postponed until these results are available.
authors.affiliation: Unidad de Metabolismo/Endocrinología Pediátrica, Hospital General Universitario Gregorio Marañón, Madrid, España.
authors.forename: Belén
authors.initials: B
authors.lastname: Huidobro Fernández
authors.forename: Maite
authors.initials: M
authors.lastname: Echeverria Fernández
authors.forename: Elena
authors.initials: E
authors.lastname: Dulin Iñiguez
authors.forename: Begoña
authors.initials: B
authors.lastname: Ezquieta Zubicaray
authors.forename: Maria Belén
authors.initials: MB
authors.lastname: Roldán Martín
authors.forename: Maria Dolores
authors.initials: MD
authors.lastname: Rodríguez Arnao
authors.forename: Amparo
authors.initials: A
authors.lastname: Rodríguez Sánchez
mesh_terms: D019326:17-alpha-Hydroxyprogesterone / Q000097:blood*; D000312:Adrenal Hyperplasia, Congenital / Q000097:blood / Q000175:diagnosis*; D019963:Clinical Chemistry Tests; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D015997:Neonatal Screening / Q000379:methods*; D012189:Retrospective Studies; D013255:Steroid 21-Hydroxylase / Q000097:blood / Q000235:genetics
chemical_list: D019326:17-alpha-Hydroxyprogesterone; C531510:CYP21A2 protein, human; D013255:Steroid 21-Hydroxylase