Neonatal screening of congenital adrenal hyperplasia due to 21-hydroxylasedeficiency: Lille experience 1980-1996.

Aim, - The results of the neonatal screening of congenital adrenal hyperpla sia due to 21-hydroxylase deficiency by 17-hydroxyprogesterone measurement from blood spot on blotting-paper in 408,138 newborns in the French Nord-Pa s-de-Calais region from 1980 to 1996 are reporteed. Methods. - This measurement successively used a tracer tritium labelled (RI A H-3), 125 iodine (RIA I-125), then immunofluorometric method (Delfia). Fr om 1992, sampling was systematically performed at the third day of life. Results. - Thirty-three cases were detected and confirmed (20 boys and 13 g irls). Diagnosis was made before recalling on a clinical basis in three boy s and eight girls. In 22 cases (17 boys and five girls) when diagnosis was not mode before recalling, it could have been suspected in three girls beca use of a sex ambiguity once associated with dehydration and in eight boys b ecause of failure to thrive (sir times) or a marked dehydration (twice). La ck of sex ambiguity in two girls characterized non classical from of the il lness. These two patients benefited from the early defection of the illness on growth data. Out of 49 subjects who died before recall, three could be suspected of bearing 21-hydroxylase deficiency. One single Salse negative c ase was found, which led to decrease cut-off value. On the other hand false positive cases were frequent (0.37%) mainly in premature newborns (88% of cases). Conclusion. - Although decrease of median age for recall at 7 days did not prevent the occurrence of two cases of dehydration, neonatal screening of 2 1-hpdroxylase deficiency appears to be efficient, as far as diagnostic stra tegy is considered. (C) 1999 Elsevier, Paris.