作者
C Moran, Ricardo Azziz, N Weintrob, SF Witchel, V Rohmer, D Dewailly, JAM Marcondes, M Pugeat, PW Speiser, D Pignatelli, BB Mendonca, TAS Bachega, HF Escobar-Morreale, E Carmina, F Fruzzetti, F Kelestimur
发表日期
2006/9/1
期刊
The Journal of Clinical Endocrinology & Metabolism
卷号
91
期号
9
页码范围
3451-3456
出版商
Oxford University Press
简介
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 …
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