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

C. Moran*, R. 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

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

144 Scopus citations

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
Pages (from-to)3451-3456
Number of pages6
JournalJournal of Clinical Endocrinology and Metabolism
Volume91
Issue number9
DOIs
StatePublished - 2006
Externally publishedYes

Funding

FundersFunder number
Consejo Nacional de Ciencia y TecnologiaFP-2003/166
National Institutes of Health
Instituto Mexicano del Seguro SocialK24-D01346

    Fingerprint

    Dive into the research topics of 'Reproductive outcome of women with 21-hydroxylase-deficient nonclassic adrenal hyperplasia'. Together they form a unique fingerprint.

    Cite this