Article
Clinical presentation and mutational spectrum in a series of 166 patients with classical 21-hydroxylase deficiency from South China.
Clinica chimica acta; international journal of clinical chemistry - 1 Nov 2018
Su Ling, Yin Xi, Cheng Jing, Cai Yanna, Wu Dongyan, Feng Zhichun, Liu Li
Abstract excerpt
Classical 21-hydroxylase deficiency (21-OHD) due to mutations in the cytochrome P450 family 21 subfamily A member 2 (CYP21A2) gene is the most common type of congenital adrenal hyperplasia (CAH). In this study, we analyzed clinical and molecular data of 166 patients with classical CAH in South China. Sanger sequencing and multiplex ligation-dependent probe amplification (MLPA) method were used to detect mutations...
Topics
- Adrenal Hyperplasia, Congenital
- China
- Cohort Studies
- DNA Mutational Analysis
- Female
- Humans
- Male
- Multiplex Polymerase Chain Reaction
- Mutation
- Retrospective Studies