Article
Congenital adrenal hyperplasia with homozygous and heterozygous mutations: a rare family case report.
BMC endocrine disorders - 7 Mar 2022
Cheng Tiantian, Liu Jing, Sun Wenwen, Song Guangyao, Ma Huijuan
Abstract excerpt
BACKGROUND: Congenital adrenal hyperplasia (CAH), characterized by defective adrenal steroidogenesis, is transmitted in an autosomal recessive manner. Mutations in the steroid 21-hydroxylase gene CYP21A2 causing steroid 21-hydroxylase deficiency account for most cases of CAH. The c.145l-1452delGGinsC gene mutation is rare, and only one case has been reported, but the form of gene mutation is different from this...
Topics
- Adrenal Glands
- Adrenal Hyperplasia, Congenital
- Adult
- Diagnosis, Differential
- Female
- Glucocorticoids
- Heterozygote
- Homozygote
- Humans
- Infertility
- Male
- Mutation