title: Reproductive outcome of women with 21-hydroxylase-deficient nonclassic adrenal hyperplasia.
abstract: BACKGROUND
  Because many women with 21-hydroxylase (21-OH)-deficient nonclassic adrenal hyperplasia (NCAH) carry at least one allele affected by a severe mutation of CYP21, they are at risk for giving birth to infants with classic adrenal hyperplasia (CAH).
  
  
  OBJECTIVE
  Our objective was to determine the frequency of CAH and NCAH infants born to mothers with 21-OH-deficient NCAH.
  
  
  METHODS
  We conducted an international multicenter retrospective/prospective study.
  
  
  METHODS
  The outcome of 203 pregnancies among 101 women with 21-OH-deficient NCAH was reviewed. The diagnosis of 21-OH-deficient NCAH was established by a basal or post-ACTH-stimulation 17-hydroxyprogesterone level of more than 10 ng/ml (30.3 nmol/liter). When possible, genotype analyses were performed to confirm CAH or NCAH in the offspring.
  
  
  RESULTS
  Of the 203 pregnancies, 138 (68%) occurred before the mother's diagnosis of NCAH and 65 (32%) after the diagnosis. Spontaneous miscarriages occurred in 35 of 138 pregnancies (25.4%) before the maternal diagnosis of NCAH, and in only four of 65 pregnancies (6.2%) after the diagnosis (P < 0.002). Four (2.5%; 95% confidence interval, 0.7-6.2%) of the 162 live births were diagnosed with CAH. To date, 24 (14.8%; 95% confidence interval, 9.0-20.6%) children, 13 girls and 11 boys, have been diagnosed with NCAH. The distribution of NCAH children and their mothers varied significantly by ethnicity (P < 0.0001, for both).
  
  
  CONCLUSIONS
  The risk of a mother with 21-OH-deficient NCAH for giving birth to a child affected with CAH is 2.5%; at least 14.8% of children born to these mothers have NCAH.
authors.affiliation: Department of Obstetrics and Gynecology, Cedars-Sinai Medical Center, 8635 West Third Street, Suite 160 W, Los Angeles, California 90048, USA.
authors.forename: C
authors.initials: C
authors.lastname: Moran
authors.forename: R
authors.initials: R
authors.lastname: Azziz
authors.forename: N
authors.initials: N
authors.lastname: Weintrob
authors.forename: S F
authors.initials: SF
authors.lastname: Witchel
authors.forename: V
authors.initials: V
authors.lastname: Rohmer
authors.forename: D
authors.initials: D
authors.lastname: Dewailly
authors.forename: J A M
authors.initials: JA
authors.lastname: Marcondes
authors.forename: M
authors.initials: M
authors.lastname: Pugeat
authors.forename: P W
authors.initials: PW
authors.lastname: Speiser
authors.forename: D
authors.initials: D
authors.lastname: Pignatelli
authors.forename: B B
authors.initials: BB
authors.lastname: Mendonca
authors.forename: T A S
authors.initials: TA
authors.lastname: Bachega
authors.forename: H F
authors.initials: HF
authors.lastname: Escobar-Morreale
authors.forename: E
authors.initials: E
authors.lastname: Carmina
authors.forename: F
authors.initials: F
authors.lastname: Fruzzetti
authors.forename: F
authors.initials: F
authors.lastname: Kelestimur
mesh_terms: D000312:Adrenal Hyperplasia, Congenital / Q000201:enzymology / Q000453:epidemiology / Q000235:genetics*; D000328:Adult; D002675:Child, Preschool; D005260:Female; D005838:Genotype; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D011247:Pregnancy; D015995:Prevalence; D011446:Prospective Studies; D012189:Retrospective Studies; D013255:Steroid 21-Hydroxylase / Q000235:genetics*
chemical_list: D013255:Steroid 21-Hydroxylase