The impact of CYP21A2 (P30L/I172N) genotype on female fertility in one family

Journal
European Journal of Medical Research
Date Issued
2019-06-19
Author(s)
Iskra Bitovska
DOI
10.1186/s40001-019-0379-4
Abstract
The simple virilizing (SV) form of congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder usually caused by steroid 21-hydroxylase deficiency due to I172N missense mutation at the CYP21A2 gene. Clinical presentation encompasses virilization of external genitalia in newborn females and pseudoprecocious puberty in both sexes, due to reactive androgen overproduction. The aim of this study was to present two sisters with an SV form of CAH and distinctive genotype, detected and treated since childhood with a poor compliance and poor metabolic control hindering the fertility.