title: Pregnancies in patients with congenital adrenal hyperplasia with complete or almost complete impairment of 21-hydroxylase activity.
abstract: OBJECTIVE
  To show that, with appropriate therapy, women with classic congenital adrenal hyperplasia (CAH) can become pregnant.
  
  
  METHODS
  Observational clinical study.
  
  
  METHODS
  University hospital.
  
  
  METHODS
  Adult young women with CAH: three with the salt-wasting form and four patients with simple virilizing CAH due to severe homozygous or compound heterozygous mutations of the CYP21B gene (deletions, I172N in exon 4 and nt656A/C-->G in intron 2) who wished to become pregnant.
  
  
  METHODS
  After confirmation in the first patient of the beneficial effect of additional treatment with fludrocortisone in lowering 17alpha-hydroxyprogesterone (17-OHP) levels, five other patients were treated with hydrocortisone as three daily doses at 8-hour intervals and fludrocortisone 0.1-0.2 mg daily divided into two to three doses. One patient received glucocorticoid alone.
  
  
  METHODS
  Treatment was controlled on the basis of morning salivary 17-OHP estimates and plasma renin concentrations.
  
  
  RESULTS
  Nine pregnancies occurred in six women. The course of the pregnancies (except one spontaneous abortion) was normal without any other modification of therapy. Only the women treated with hydrocortisone alone did not become pregnant.
  
  
  CONCLUSIONS
  When treated with a combination of glucocorticoids and mineralocorticoids, sexually active patients with the classic phenotype of CAH can become pregnant.
authors.affiliation: Children's Hospital of the University of Leipzig, Leipzig, Germany. GAUR@medizin.uni-Leipzig.de
authors.forename: Wolfgang
authors.initials: W
authors.lastname: Hoepffner
authors.forename: Egbert
authors.initials: E
authors.lastname: Schulze
authors.forename: Joachim
authors.initials: J
authors.lastname: Bennek
authors.forename: Eberhard
authors.initials: E
authors.lastname: Keller
authors.forename: Helmut
authors.initials: H
authors.lastname: Willgerodt
mesh_terms: D019326:17-alpha-Hydroxyprogesterone / Q000032:analysis; D000312:Adrenal Hyperplasia, Congenital / Q000503:physiopathology* / Q000628:therapy; D000328:Adult; D005260:Female; D005438:Fludrocortisone / Q000008:administration & dosage; D006801:Humans; D006854:Hydrocortisone / Q000008:administration & dosage; D011247:Pregnancy; D011248:Pregnancy Complications / Q000503:physiopathology* / Q000628:therapy; D012463:Saliva / Q000737:chemistry; D013255:Steroid 21-Hydroxylase / Q000235:genetics*
chemical_list: D019326:17-alpha-Hydroxyprogesterone; D013255:Steroid 21-Hydroxylase; D005438:Fludrocortisone; D006854:Hydrocortisone