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

ABSTRACT:

Background

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.

Case presentation

We retrospectively reviewed the clinical, biochemical, and molecular data of two sisters with CAH a 46,XX karyotype when they reached an age of 35 and 38 years, r

SUBMITTER: Kocova M 

PROVIDER: S-EPMC6582564 | biostudies-literature | 2019 Jun

REPOSITORIES: biostudies-literature