Abstract
The genetic organization of the 21-OHase complex (P450c21) in CAH is well characterized, but the findings reported in the literature vary depending on the population studied. This investigation was carried out to determine the genetic alterations of the P450C21. complex in Brazilian families. During 18 months, we studied 21 families with 27 affected individuals with classic 21-OHase deficiency. Blood samples of all family members were tested for hybridization on conventional Southern blot with Taq I digests of DNA, with gene probes for P450c21 and C4. Among the 27 affected individuals (9M:18F, with positive family history in 11/21, and consanguinity in 4/21), 9 had the simple virilizing and 18 the salt-wasting form. The most frequent alteration was a point mutation of the 21B gene with a normal 21A gene (64.8%). These results are similar to those published in the literature. However, the presence of 5.5% deletions and 16.8% conversions of the 21B gene in our population, indicate the need for further studies to confirm these findings.
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Guerra, G., Mello, M., Farah, S. et al. CLINICAL AND MOLECULAR STUDIES OF 21 BRAZILIAN FAMILIES WITH CLASSIC CONGENITAL ADRENAL HYPERPLASIA (CAH) DUE TO 21-HYDROXYLASE DEFICIENCY. Pediatr Res 38, 624 (1995). https://doi.org/10.1203/00006450-199510000-00044
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DOI: https://doi.org/10.1203/00006450-199510000-00044