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

Felix Votava | Zendy; Dóra Török | Zendy; József Kovács | Zendy; Dorothea Möslinger | Zendy; Sabina BaumgartnerParzer | Zendy; J. Sólyom | Zendy; Zuzana Pribilincová | Zendy; Tadej Battelino | Zendy; Jan Lebl | Zendy; H Frisch | Zendy; Franz Waldhauser | Zendy

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

Author(s) -

Felix Votava,

Dóra Török,

József Kovács,

Dorothea Möslinger,

Sabina BaumgartnerParzer,

J. Sólyom,

Zuzana Pribilincová,

Tadej Battelino,

Jan Lebl,

H Frisch,

Franz Waldhauser

Publication year - 2005

Publication title -

european journal of endocrinology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.897

H-Index - 148

eISSN - 1479-683X

pISSN - 0804-4643

DOI - 10.1530/eje.1.01929

Subject(s) - congenital adrenal hyperplasia , newborn screening , medicine , dried blood , androgen excess , endocrinology , androgen , congenital hypothyroidism , pediatrics , hormone , polycystic ovary , obesity , insulin resistance , chemistry , chromatography , thyroid

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 patients who had been identified clinically before puberty would have been detected by the newborn screening.

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