These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: Amniotic 17-alpha hydroxyprogesterone and HLA typing for the prenatal diagnosis of 21-alpha hydroxylase deficiency--congenital adrenal hyperplasia.
    Author: Rosenmann A, Schumert Z, Theodor R, Cohen T, Brautbar C.
    Journal: Am J Med Genet; 1980; 6(4):295-300. PubMed ID: 7211946.
    Abstract:
    We have investigated a family with one child affected with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. Prenatal determination of 17-alpha hydroxyprogesterone (17OHP) in amniotic fluid (AF) and HLA typing of amniotic fibroblasts from a pregnancy at risk showed that the fetus was not affected. A healthy cousin with HLA haplotypes identical to those of the proposita (only one being identical by descent) had a normal plasma level of 17OHP. The prenatal diagnosis of a fetus affected with 21-hydroxylase deficiency CAH may be established by the determination of 17OHP in AF. This is a relatively quick procedure that can be confirmed by the HLA genotype, and is mandatory in families with a parent homozygous for an HLA haplotype and in certain recombinant haplotypes in the fetus.
    [Abstract] [Full Text] [Related] [New Search]