TY - JOUR
T1 - Reproductive outcome of women with 21-hydroxylase-deficient nonclassic adrenal hyperplasia
AU - Moran, C.
AU - Azziz, R.
AU - Weintrob, N.
AU - Witchel, S. F.
AU - Rohmer, V.
AU - Dewailly, D.
AU - Marcondes, J. A.M.
AU - Pugeat, M.
AU - Speiser, P. W.
AU - Pignatelli, D.
AU - Mendonca, B. B.
AU - Bachega, T. A.S.
AU - Escobar-Morreale, H. F.
AU - Carmina, E.
AU - Fruzzetti, F.
AU - Kelestimur, F.
N1 - Funding Information:
This work was supported in part by the following research grants: 38371-M from Consejo Nacional de Ciencia y Tecnologia and FP-2003/166 from Mexican Institute of Social Security, Mexico (to C.M.); K24-D01346 from the National Institutes of Health (to R.A.); and a grant from Programme Hospitalier de Recherche Clinique-Regional 2003, France (to M.P.).
PY - 2006
Y1 - 2006
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=33748756052&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=33748756052&partnerID=8YFLogxK
U2 - 10.1210/jc.2006-0062
DO - 10.1210/jc.2006-0062
M3 - Article
C2 - 16822826
AN - SCOPUS:33748756052
SN - 0021-972X
VL - 91
SP - 3451
EP - 3456
JO - Journal of Clinical Endocrinology and Metabolism
JF - Journal of Clinical Endocrinology and Metabolism
IS - 9
ER -