The diagnosis of congenital adrenal hyperplasia in the newborn by gas chromatography/mass spectrometry analysis of random urine specimens.

@article{Caulfield2002TheDO,
  title={The diagnosis of congenital adrenal hyperplasia in the newborn by gas chromatography/mass spectrometry analysis of random urine specimens.},
  author={Michael P. Caulfield and Thomas Lynn and Michael E. Gottschalk and Kenneth Lee Jones and Norman F. Taylor and Ewa M. Malunowicz and Cedric H. L. Shackleton and Richard E. Reitz and Delbert A. Fisher},
  journal={The Journal of clinical endocrinology and metabolism},
  year={2002},
  volume={87 8},
  pages={3682-90}
}
Definitive neonatal diagnosis of congenital adrenal hyperplasia (CAH) is frequently complicated by normal 17-hydroxyprogesterone levels in 21-hydroxylase-deficient patients, residual maternal steroids, and other interfering substances in neonatal blood. In an effort to improve the diagnosis, we developed a gas chromatography/mass spectrometry method for simultaneous measurement of 15 urinary steroid metabolites as early as the first day of life. Furthermore, we developed 11 precursor/product… CONTINUE READING
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