Weight-adjusted neonatal 17OH-progesterone cutoff levels improve the efficiency of newborn screening for congenital adrenal hyperplasia ABSTRACTObjective: To evaluate weight-adjusted strategy for levels of neonatal-17OHP in order to improve newborn screening (NBS) efficiency. Subjects and methods: Blood samples collected between 2-7 days of age from 67,640 newborns were evaluated. When N17OHP levels were ≥ 20 ng/mL, and a second sample was requested. We retrospectively analyzed neonatal-17OHP levels measured by Auto DELFIA-B024-112 assay, grouped according to birth-weight: G1: < 1,500 g, G2: 1,501-2,000 g, G3: 2,000-2,500 g and G4: > 2,500 g. 17OHP cutoff values were determined for each group using the 97. Keywords 21-hydroxylase deficiency; congenital adrenal hyperplasia; newborn screening; neonatal 17OH-progesterone levels; preterm and full-term newborns RESUMO Objetivo: Avaliamos retrospectivamente os valores da 17OHP ajustados para o peso ao nascimento para melhorar a eficiência da triagem neonatal. Sujeitos e métodos: 67.640 recém--nascidos com amostras coletadas entre 2-7 dias de vida. Uma segunda amostra foi solicitada na presença de testes com valores da 17OHP ≥ 20 ng/mL. 17OHP dosada pelo método DELFIA-B024-112 e correlacionada com o peso ao nascimento: G1 < 1.500 g, G2 1.501-2.000 g, G3 2.000-2.500 g e G4 > 2.500 g.

Neonatal 17-hydroxyprogesterone levels adjusted to sample collection age and birthweight reduced the FPR, and the use of N17OHP values based upon the 99·8th percentile improved the NBS efficacy.

Genitography was carried out in 86 intersex patients: 45 patients with congenital adrenal hyperplasia, 16 non-adrenal pseudo-hermaphrodites. 13 male pseudo-hermaphrodites, 7 patients with mixed gonadal dysgenesis and 5 true hermaphrodites. The ratio of the horizontal versus the vertical segments of the lower urinary tract was used to assess radiologically the degree of virilization of the uro-genital sinus. Injection of the vagina presented serious difficulties in 14 cases. Failures in genitography were usually ascribed to inadequate techniques, but were sometimes due to lack of communication between a highly placed vaginal pouch and the urinary tract. Genitography did not help to distinguish between the various types of intersexuality. However, it is of great value when sex-assignment of an intersex child is discussed.

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