Consanguinity was identified among the parents of Cases 3 and 7; however, none of the children had a positive family history of CAH. The average age at screening of the children diagnosed with CAH was 7 ± 2 days. The median age at diagnosis (and at the beginning of treatment) was 39 days (13-581 days). The diagnosis of the simple virilizing form of CAH was delayed for one female child, who was born prematurely (Case 5) with a Prader I genitalia. She was evaluated at 49 days of age; however, no treatment was initiated until the age of 19 months, when the diagnosis was confirmed.

The median serum 17-OHP level (RV < 204 ng/dL) was high: 2,835 ng/dL (2,160-4,180 ng/dL). The 17-OHP levels of the children with the salt-wasting form did not differ from those of the children with the simple virilizing form

(p = 0.43). The median serum androstenedione levels (RV < 1.6 ng/mL) were very high: 32 ng/mL (0.3-310 ng/mL). check details The serum testosterone levels were high, find more and did not differ between male and female children (p = 0.83). The Na+ and K+ levels in the children with the salt-wasting form of CAH were in the abnormal range: 127 ± 6 mmol/L (RV = 135-145 mmol/L) and 7.0 ± 0.8 mmol/L (RV = 3.5-5.5 mmol/L), respectively, at diagnosis. The false-positive rate and the PPV were calculated for the first six months of the project. During this period, 106,476 children were screened for CAH, and 328 cases were determined to be false positives after screening and follow-up visits. No false-negative cases were identified during the first three years of follow-up, but active search was not performed. Therefore, the false-positive rate was 0.31%, and the PPV was 2.1%. Sensitivity and specificity SPTBN5 were 100% and 99.7%, respectively. Of the 315 children with false-positive diagnoses

who were monitored by the PTN-MG, 63% were either born prematurely, had a low birth weight, or experienced both conditions. The false-positive cases were followed-up for a median of 17 months after birth (2.6-34 months) until their 17-OHP levels normalized. An incidence ratio of 1:19,927 was calculated for the classic form of CAH in Minas Gerais, following the screening pilot project. This incidence was lower than that of the other Brazilian states where CAH screening has been performed: 1:7,500 and 1:13,809 in the South and 1:10,325 in the Midwest.5 Goiás (in Midwestern Brazil) was the first Brazilian state to include CAH in its public program of newborn screening, which was implemented in 1997 and is now widely established. An incidence ratio of 1:10,325 was reported for the classic form of CAH in the state, after follow-up of an average of 16 months.5 Another Brazilian state that has routinely included CAH in its public program of screening since 2000 is Santa Catarina (in Southern Brazil), with a reported incidence ratio of 1:11.655 among 378.337 newborns.