Estimation of the false-negative rate in newborn screening for congenital adrenal hyperplasia.

@article{Votava2005EstimationOT,
  title={Estimation of the false-negative rate in newborn screening for congenital adrenal hyperplasia.},
  author={Felix Votava and D{\'o}ra T{\"o}r{\"o}k and J{\'o}zsef Kov{\'a}cs and Dorothea Moeslinger and Sabina M. Baumgartner-Parzer and J{\'a}nos S{\'o}lyom and Zuzana Pribilincov{\'a} and Tadej Battelino and Jan Lebl and H. P. Frisch and Franz Waldhauser},
  journal={European journal of endocrinology},
  year={2005},
  volume={152 6},
  pages={869-74}
}
OBJECTIVE Newborn screening based on measurement of 17alpha-hydroxyprogesterone (17-OHP) in a dried blood spot on filter paper is an effective tool for early diagnosis of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. Its most important rationale is prevention of a life-threatening salt-wasting (SW) crisis; in moderate forms of CAH, early diagnosis and treatment may prevent permanent negative effects of androgen overproduction. Our target was to analyse if all CAH… CONTINUE READING

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21-hydroxylase deficiency

A Nordenstrom, A Wedell, L Hagenfeldt, C Marcus, A. Larsson
Endocrine Reviews • 2000

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