{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,9]],"date-time":"2026-05-09T02:36:40Z","timestamp":1778294200920,"version":"3.51.4"},"reference-count":37,"publisher":"The Endocrine Society","issue":"9","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2006,9,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>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).<\/jats:p>\n               <jats:p>Objective: Our objective was to determine the frequency of CAH and NCAH infants born to mothers with 21-OH-deficient NCAH.<\/jats:p>\n               <jats:p>Design and Setting: We conducted an international multicenter retrospective\/prospective study.<\/jats:p>\n               <jats:p>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.<\/jats:p>\n               <jats:p>Results: Of the 203 pregnancies, 138 (68%) occurred before the mother\u2019s 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 &amp;lt; 0.002). Four (2.5%; 95% confidence interval, 0.7\u20136.2%) of the 162 live births were diagnosed with CAH. To date, 24 (14.8%; 95% confidence interval, 9.0\u201320.6%) children, 13 girls and 11 boys, have been diagnosed with NCAH. The distribution of NCAH children and their mothers varied significantly by ethnicity (P &amp;lt; 0.0001, for both).<\/jats:p>\n               <jats:p>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.<\/jats:p>","DOI":"10.1210\/jc.2006-0062","type":"journal-article","created":{"date-parts":[[2006,7,6]],"date-time":"2006-07-06T08:53:01Z","timestamp":1152175981000},"page":"3451-3456","source":"Crossref","is-referenced-by-count":146,"title":["Reproductive Outcome of Women with 21-Hydroxylase-Deficient Nonclassic Adrenal Hyperplasia"],"prefix":"10.1210","volume":"91","author":[{"given":"C.","family":"Moran","sequence":"first","affiliation":[{"name":"Mexican Institute of Social Security (C.M.), 06725 Mexico City, Mexico"}]},{"given":"R.","family":"Azziz","sequence":"additional","affiliation":[{"name":"University of Alabama at Birmingham (R.A.), Birmingham, Alabama 35294"},{"name":"Cedars-Sinai Medical Center (R.A.), Los Angeles, California 90048"}]},{"given":"N.","family":"Weintrob","sequence":"additional","affiliation":[{"name":"Institute for Endocrinology and Diabetes (N.W.), Schneider Children\u2019s Medical Center, Petah Tiqva, 49202 Israel"}]},{"given":"S. F.","family":"Witchel","sequence":"additional","affiliation":[{"name":"Children\u2019s Hospital of Pittsburgh (S.F.W.), Pittsburgh, Pennsylvania 15213"}]},{"given":"V.","family":"Rohmer","sequence":"additional","affiliation":[{"name":"Centre Hospitalier Universitaire D\u2019Angers (V.R.), Angers, 49033 France"}]},{"given":"D.","family":"Dewailly","sequence":"additional","affiliation":[{"name":"Centre Hospitalier Regional et Universitaire de Lille (D.D.), Lille, 59037 France"}]},{"given":"J. A. M.","family":"Marcondes","sequence":"additional","affiliation":[{"name":"Hospital das Clinicas (J.A.M.M., B.B.M., T.A.S.B.), 05403 Sao Paulo, Brazil"}]},{"given":"M.","family":"Pugeat","sequence":"additional","affiliation":[{"name":"Hospices Civils de Lyon (M.P.), Lyon, 69289 France"}]},{"given":"P. W.","family":"Speiser","sequence":"additional","affiliation":[{"name":"Schneider Children\u2019s Hospital (P.W.S.), New York, New York 11042"}]},{"given":"D.","family":"Pignatelli","sequence":"additional","affiliation":[{"name":"Faculty of Medicine of Porto (D.P.), 4200 Porto, Portugal"}]},{"given":"B. B.","family":"Mendonca","sequence":"additional","affiliation":[{"name":"Hospital das Clinicas (J.A.M.M., B.B.M., T.A.S.B.), 05403 Sao Paulo, Brazil"}]},{"given":"T. A. S.","family":"Bachega","sequence":"additional","affiliation":[{"name":"Hospital das Clinicas (J.A.M.M., B.B.M., T.A.S.B.), 05403 Sao Paulo, Brazil"}]},{"given":"H. 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