[Neonatal screening for phenylketonuria and hypothyroidism in France. A 12-year experience]. / Le dépistage néonatal de la phénylcétonurie et de l'hypothyroïdie en France. Une expérience de 12 années.

The authors report their experience in the systematic, co-ordinated and controlled neonatal screening in France: a coverage of approximately 100 per cent for several years, nearly 13 millions of tests for phenylketonuria and more than 7 millions for hypothyroidism, almost 850 phenylketonuric children and more than 1,600 patients with hypothyroidism, screened and taken care of. The frequency of phenylketonuria is estimated at 1 for 16,394 and the frequency of hypothyroidism at 1 for 4,041. They insist on the need for a strict investigation of false negatives and point out a few specific points on the care of affected children. Overall, the assessment of neonatal screening is positive since it has allowed 2,500 children, doomed to mental retardation, to have a normal growth.

Embryonic testicular regression syndrome: variable phenotypic expression in siblings.

Two 46,XY agonadal siblings with variable degrees of sexual ambiguity are described. The eldest child is a phenotypic male with micropenis. The younger patient, a phenotypic female with slight fusion of the genital folds and absent müllerian ducts, conforms to the criteria usually accepted for the diagnosis of true agonadism. Coexistence of anorchia and true agonadism in the same sibship supports the hypothesis, suggested by others, that both disorders are related and are due to the regression of the embryonic testes.