Year: 2019
Type: Article
Title: The impact of CYP21A2 (P30L/I172N) genotype on female fertility in one family
Author: Mirjana Kocova
Author: Violeta Anastasovska
Author: Iskra Bitovska
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.
Publisher: BMC Part of Springer Nature
Relation: European Journal of Medical Research
Identifier: oai:repository.ukim.mk:20.500.12188/10995
Identifier: http://hdl.handle.net/20.500.12188/10995Identifier: 10.1186/s40001-019-0379-4
Identifier: http://link.springer.com/content/pdf/10.1186/s40001-019-0379-4.pdfIdentifier: http://link.springer.com/article/10.1186/s40001-019-0379-4/fulltext.htmlIdentifier: http://link.springer.com/content/pdf/10.1186/s40001-019-0379-4.pdfIdentifier: 24
Identifier: 1
