Reproductive outcome of women with 21-hydroxylase-deficient nonclassic adrenal hyperplasia

C. Moran, Ricardo Azziz, N. Weintrob, S. F. Witchel, V. Rohmer, D. Dewailly, J. A.M. Marcondes, M. Pugeat, P. W. Speiser, D. Pignatelli, B. B. Mendonca, T. A.S. Bachega, H. F. Escobar-Morreale, E. Carmina, F. Fruzzetti, F. Kelestimur

Research output: Contribution to journalArticle

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Abstract

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.

Original languageEnglish (US)
Pages (from-to)3451-3456
Number of pages6
JournalJournal of Clinical Endocrinology and Metabolism
Volume91
Issue number9
DOIs
StatePublished - Jan 1 2006

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Steroid 21-Hydroxylase
Hyperplasia
17-alpha-Hydroxyprogesterone
Mothers
Adrenocorticotropic Hormone
hydroxide ion
Pregnancy
Parturition
Confidence Intervals

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Biochemistry
  • Endocrinology
  • Clinical Biochemistry
  • Biochemistry, medical

Cite this

Moran, C., Azziz, R., Weintrob, N., Witchel, S. F., Rohmer, V., Dewailly, D., ... Kelestimur, F. (2006). Reproductive outcome of women with 21-hydroxylase-deficient nonclassic adrenal hyperplasia. Journal of Clinical Endocrinology and Metabolism, 91(9), 3451-3456. https://doi.org/10.1210/jc.2006-0062

Reproductive outcome of women with 21-hydroxylase-deficient nonclassic adrenal hyperplasia. / Moran, C.; Azziz, Ricardo; Weintrob, N.; Witchel, S. F.; Rohmer, V.; Dewailly, D.; Marcondes, J. A.M.; Pugeat, M.; Speiser, P. W.; Pignatelli, D.; Mendonca, B. B.; Bachega, T. A.S.; Escobar-Morreale, H. F.; Carmina, E.; Fruzzetti, F.; Kelestimur, F.

In: Journal of Clinical Endocrinology and Metabolism, Vol. 91, No. 9, 01.01.2006, p. 3451-3456.

Research output: Contribution to journalArticle

Moran, C, Azziz, R, Weintrob, N, Witchel, SF, Rohmer, V, Dewailly, D, Marcondes, JAM, Pugeat, M, Speiser, PW, Pignatelli, D, Mendonca, BB, Bachega, TAS, Escobar-Morreale, HF, Carmina, E, Fruzzetti, F & Kelestimur, F 2006, 'Reproductive outcome of women with 21-hydroxylase-deficient nonclassic adrenal hyperplasia', Journal of Clinical Endocrinology and Metabolism, vol. 91, no. 9, pp. 3451-3456. https://doi.org/10.1210/jc.2006-0062
Moran, C. ; Azziz, Ricardo ; Weintrob, N. ; Witchel, S. F. ; Rohmer, V. ; Dewailly, D. ; Marcondes, J. A.M. ; Pugeat, M. ; Speiser, P. W. ; Pignatelli, D. ; Mendonca, B. B. ; Bachega, T. A.S. ; Escobar-Morreale, H. F. ; Carmina, E. ; Fruzzetti, F. ; Kelestimur, F. / Reproductive outcome of women with 21-hydroxylase-deficient nonclassic adrenal hyperplasia. In: Journal of Clinical Endocrinology and Metabolism. 2006 ; Vol. 91, No. 9. pp. 3451-3456.
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abstract = "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.",
author = "C. Moran and Ricardo Azziz and N. Weintrob and Witchel, {S. F.} and V. Rohmer and D. Dewailly and Marcondes, {J. A.M.} and M. Pugeat and Speiser, {P. W.} and D. Pignatelli and Mendonca, {B. B.} and Bachega, {T. A.S.} and Escobar-Morreale, {H. F.} and E. Carmina and F. Fruzzetti and F. Kelestimur",
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T1 - Reproductive outcome of women with 21-hydroxylase-deficient nonclassic adrenal hyperplasia

AU - Moran, C.

AU - Azziz, Ricardo

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.

PY - 2006/1/1

Y1 - 2006/1/1

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.

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