10 However, this number was disputed by a recent study where the authors emphasized that those figures were obtained through voluntary, self-paid tests with see more unconfirmed clinical outcomes.5 This large variation in reported prevalence might be due to Brazil’s large territory and diversity, but it might also be due to methodological differences across the studies. The screening in Minas Gerais was performed over eight months, but the clinical and laboratory

follow-ups with the children who had positive screening tests lasted up to 34 months, until the diagnosis was either confirmed or proven to be a false-positive result. One explanation for the lower incidence of CAH in Minas Gerais observed in the present study compared with those of other Brazilian states may be the lengthy follow-up period, which enabled the exclusion of false positives. A high incidence of 1:9,963 was initially incorrectly assessed; after the clinical and laboratory follow-up, approximately half of the initial diagnoses of CAH were determined to be false-positives. The children click here with false-positive diagnoses exhibited high confirmatory serum levels of 17-OHP, and at least one clinical sign that suggested CAH at the beginning of the follow-up. CAH was discarded and the children remained asymptomatic after withdrawing medication. Therefore, only the confirmed cases of CAH were considered in the

calculation of disease incidence. This points to follow-up monitoring PDK4 as an essential step for a reliable CAH diagnosis. Difficulties with CAH diagnoses are common9 and may have accounted for the initially high apparent incidence of the disease in the present pilot study. Decisions regarding treatment should always be postponed for asymptomatic children and for those with only slightly elevated 17-OHP levels.11 Tests with higher specificities for diagnostic confirmation, such as a molecular genetic analysis of the CYP21 gene, have been suggested as a complementary analysis in such cases.9 and 12 The present study was the first to examine the incidence of CAH in Minas Gerais,

a large state in the Southeastern region of Brazil, with a territory of 586,528 km2. The disease incidence herein reported is close to those reported in Japan (1:18,000), New Zealand (1:21,270), and in Northeastern Italy (1:21,380).7, 13 and 14 The duration of this study might be considered a hindrance for drawing conclusions. However, the incidence calculated in this screening pilot project is highly credible, due to the state-wide coverage of the PTN-MG (nearly 100%) and to the large number of screened children despite the short period of time devoted to the pilot. The evaluation of this pilot project points to the potential for reducing CAH morbidity and mortality rates among the affected children. Clinical suspicion for CAH was low at birth: half of the cases in the present study were diagnosed by screening alone.