Unexpectedly high mutation rate of cyp11b1 compared to cyp21a2 in randomly-selected turkish women: a large screening study

• Published in: Journal of endocrinological investigation Vol. 46; no. 11; pp. 2367 - 2377
• Main Authors: Polat, S., Karaburgu, S., Unluhizarci, K., Dundar, M., Ozkul, Y., Arslan, Y. K., Karaca, Z., Kelestimur, F.
• Format: Journal Article
• Language: English
• Published: Cham Springer International Publishing 01.11.2023; Springer Nature B.V
• Subjects: Aldosterone synthase; Blood donors; Chromosomes; DNA sequencing; Endocrinology; Exons; Genotypes; Genotyping; Guanylate cyclase; Heterozygosity; Homology; Hyperplasia; Internal Medicine; Medicine; Medicine & Public Health; Metabolic Diseases; Mutation; Mutation rates; Nucleotide sequence; Original Article; Polycystic ovary syndrome; Steroid 11β-hydroxylase; Steroidogenesis; Comprehensive genotyping; Randomly-selected women; HSD3β2; CYP21A2; CYP11B1

Purpose Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders resulting from enzyme deficiencies associated with steroidogenesis. The clinical presentation of non-classic CAH (NCAH) in females is often indistinguishable from other hyperandrogenic disorders like polycystic...