Genetic defects of the CYP21A2 gene in girls with premature adrenarche

Conclusions In girls with PA, the frequency of the underlying CYP21A2 genetic defects is similar to that observed in other populations. The carrier status is likely a contributing factor in the genotype–phenotype correlation in NC-CAH. However, polymorphisms and other genes may be implicated in the clinical manifestation of the disease.
Source: Journal of Endocrinological Investigation - Category: Endocrinology Source Type: research