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  • Book
    [edited by] Jonathan S. Berek, MD, MMS, Laurie Kraus Lacob Professor, Director, ... Show More Stanford Women's Cancer Center, Stanford Cancer Institute, Chair, Department of Obstetrics and Gynecology, Stanford University School of Medicine, Stanford, California, Neville F. Hacker, AM, MD, Professor of Gynaecologic Oncology, Conjoint, University of New Sourth Wales, Director, Gynaecologic Cancer Centre, Royal Hospital for Women, Sydney, Australia ; illustrations and design by Deborah Berek. MA, Tim Hengst, CMI, FAMI.
    Digital Access
    Provider
    Version
    Ovid
    2015
    LWW Health Library (ObGyn)
    2015
    LWW Health Library (Oncology)
    2015
  • Article
    Rösler A, Leiberman E, Rosenmann A, Ben-Uzilio R, Weidenfeld J.
    J Clin Endocrinol Metab. 1979 Oct;49(4):546-51.
    To predict 11beta-hydroxylase deficiency congenital adrenal hyperplasia antenatally, studies were performed in urines and amniotic fluids from 2 pregnant women who had previously given birth to affected infants and whose present pregnancies also resulted in infants with the disease. Urinary tetrahydro-11-deoxycortisol [pregnane-3alpha, 17alpha, 21-triol-20-one (THS)] was abnormally elevated in the first, second, and third trimesters (maximal values, 3.5 and 0.9 mg/24 h, respectively) but was undetectable after delivery in these mothers, in 15 normal pregnancies (10--40 weeks of gestation), and in 6 heterozygote parents. Amniotic fluid levels of THS, tetrahydrocortisol [pregnane-3alpha, 11beta, 17alpha, 21-tetra-o1-20-one (THF)], tetrahydrocortisone [pregnane-3alpha, 17alpha, 21-triol-11, 20-dione (THE)] measured by RIA at 18 weeks of gestation in the first mother and at 40 weeks in the second revealed 12.5- and 8.4-fold increases in THS, respectively, but normal THF and THE levels compared to mean levels in normal pregnancies. The THS to THF plus THE ratio, which was constant throughout pregnancy in 125 normal women (mean +/- SD, 0.63 +/- 0.34) despite the variable levels of these metabolites, was significantly elevated in both patients (4.4 and 3.8, respectively). These studies indicate that prenatal diagnosis of 11beta-hydroxylase deficiency congenital adrenal hyperplasia based on hormonal measurements is feasible.
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