title: Fertility in women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
abstract: OBJECTIVE
  In contrast to subfertility often reported in women suffering from the classical form of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency, fertility in nonclassical CAH (NC-CAH) has been rarely studied. Our objective was to evaluate fertility in NC-CAH women.
  
  
  METHODS
  We studied 190 NC-CAH women (161 probands + 29 first degree relatives). Only 20 probands had consulted for infertility (12%), either alone or associated with hirsutism or menstrual cycle disorders. The diagnosis was established on post-ACTH 17-hydroxyprogesterone 10 ng/ml or greater and further characterized by CYP21A2 gene analysis.
  
  
  RESULTS
  Ninety-five of the 190 women wanted pregnancy (aged 26.7 +/- 8.9 yr); 187 pregnancies occurred in 85 women, which resulted in 141 births in 82 of them. Ninety-nine pregnancies (52.9%) occurred before the diagnosis of NC-CAH (96 spontaneously and three with ovulation inducers) whereas 98 occurred after diagnosis (11 spontaneously and 77 with hydrocortisone treatment); 83% of pregnancies were obtained within 1 yr. The rate of miscarriages was 6.5% for pregnancies obtained with glucocorticoid treatment vs. 26.3% without. Two of the 141 infants (1.5%) were born with classical CAH.
  
  
  CONCLUSIONS
  Subfertility is mild in NC-CAH. However, the rate of miscarriages is lower in pregnancies occurring with glucocorticoid treatment and argues for treating NC-CAH women wanting pregnancy. In addition, considering the high rate of heterozygotes for CYP21A2 mutations in the general population, it is essential to genotype the partner of patients with a severe mutation to predict the risk of classical CAH and offer genetic counseling.
authors.affiliation: Department of Reproductive Endocrinology, Hôpital Pitié-Salpêtrière, 47 Boulevard de l'Hôpital, 75013 Paris, France.
authors.forename: Maud
authors.initials: M
authors.lastname: Bidet
authors.forename: Christine
authors.initials: C
authors.lastname: Bellanné-Chantelot
authors.forename: Marie-Béatrice
authors.initials: MB
authors.lastname: Galand-Portier
authors.forename: Jean-Louis
authors.initials: JL
authors.lastname: Golmard
authors.forename: Véronique
authors.initials: V
authors.lastname: Tardy
authors.forename: Yves
authors.initials: Y
authors.lastname: Morel
authors.forename: Séverine
authors.initials: S
authors.lastname: Clauin
authors.forename: Christiane
authors.initials: C
authors.lastname: Coussieu
authors.forename: Philippe
authors.initials: P
authors.lastname: Boudou
authors.forename: Irene
authors.initials: I
authors.lastname: Mowzowicz
authors.forename: Anne
authors.initials: A
authors.lastname: Bachelot
authors.forename: Philippe
authors.initials: P
authors.lastname: Touraine
authors.forename: F
authors.initials: F
authors.lastname: Kuttenn
mesh_terms: D000022:Abortion, Spontaneous / Q000235:genetics; D000312:Adrenal Hyperplasia, Congenital / Q000150:complications* / Q000188:drug therapy / Q000235:genetics; D000328:Adult; D016009:Chi-Square Distribution; D005260:Female; D005938:Glucocorticoids / Q000627:therapeutic use; D006801:Humans; D007247:Infertility, Female / Q000209:etiology*; D009154:Mutation; D010375:Pedigree; D011247:Pregnancy; D011256:Pregnancy Outcome / Q000235:genetics*; D013255:Steroid 21-Hydroxylase / Q000235:genetics*
chemical_list: D005938:Glucocorticoids; D013255:Steroid 21-Hydroxylase