A novel 9 bp deletion (c.1271_1279delGTGCCCGCG) in exon 10 of CYP21A2 gene causing severe congenital adrenal hyperplasia

Violeta Anastasovska; Mirjana Kocova; Nikolina Zdraveska; Maja Stojiljkovic; Anita Skakic; Kristel Klaassen; Sonja Pavlovic

doi:10.1007/s12020-021-02680-7

A novel 9 bp deletion (c.1271_1279delGTGCCCGCG) in exon 10 of CYP21A2 gene causing severe congenital adrenal hyperplasia

Journal

Endocrine

Date Issued

2021-03-14

Author(s)

Maja Stojiljkovic

Anita Skakic

Kristel Klaassen

Sonja Pavlovic

DOI

10.1007/s12020-021-02680-7

Abstract

Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder of adrenal steroidogenesis with a broad spectrum of clinical presentations, ranging from the severe classical salt-wasting (SW) and simple-virilizing (SV) form, to the mild nonclassical form. A large variety of CYP21A2 genotypes in correlation with phenotype have been described.