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Reproductive Outcome of Women with 21-Hydroxylase-Deficient Nonclassic Adrenal Hyperplasia

Mexican Institute of Social Security (C.M.), 06725 Mexico City, Mexico; University of Alabama at Birmingham (R.A.), Birmingham, Alabama 35294; Cedars-Sinai Medical Center (R.A.), Los Angeles, California 90048; Institute for Endocrinology and Diabetes (N.W.), Schneider Children’s Medical Center, Petah Tiqva, 49202 Israel; Children’s Hospital of Pittsburgh (S.F.W.), Pittsburgh, Pennsylvania 15213; Centre Hospitalier Universitaire D’Angers (V.R.), Angers, 49033 France; Centre Hospitalier Regional et Universitaire de Lille (D.D.), Lille, 59037 France; Hospital das Clinicas (J.A.M.M., B.B.M., T.A.S.B.), 05403 Sao Paulo, Brazil; Hospices Civils de Lyon (M.P.), Lyon, 69289 France; Schneider Children’s Hospital (P.W.S.), New York, New York 11042; Faculty of Medicine of Porto (D.P.), 4200 Porto, Portugal; Hospital Ramon y Cajal (H.F.E.-M.), E-28034 Madrid, Spain; University of Palermo (E.C.), I-90139 Palermo, Italy; University of Pisa (F.F.), I-56100 Pisa, Italy; and Erciyes University Medical School (F.K.), 3805 Kayseri, Turkey

Address all correspondence and requests for reprints to: Ricardo Azziz, M.D., M.P.H., M.B.A., Department of Obstetrics and Gynecology, Cedars-Sinai Medical Center, 8635 West Third Street, Suite 160 W, Los Angeles, California 90048. E-mail: azzizr{at}cshs.org; or Carlos Moran, M.D., M.Sc., Health Research Council, Mexican Institute of Social Security, 413 Interamerica Boulevard WH1, PMB 67–139, Laredo, Texas 78045. E-mail: cemoranv{at}hotmail.com.

Context: 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.

Design and Setting: We conducted an international multicenter retrospective/prospective study.

Patients and 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.

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