Congenital Adrenal Hyperplasia with Non-functional Mutations in Both Alleles in a Clinically Unaffected Infant

Conclusions: Although molecular genetic methods can theoretically predict loss of function in CAH, our infant was clinically unaffected even without therapy at 6 years of age. We speculate that in CAH, remaining enzyme activity can be sufficiently high, despite the presence of loss of function mutations, which do not affect infants clinically.

Source: Journal of Tropical Pediatrics - March 29, 2016 Category: Tropical Medicine Authors: Hoehn, T., Lukacs, Z., Huckenbeck, W., Torresani, T., Blankenstein, O., Bounnack, S. Tags: Brief Report Source Type: research