Article
Partial deficiency of 17α-hydroxylase: a rare cause of congenital adrenal hyperplasia.
BMJ case reports - 3 Dec 2019
Sousa Paredes Sílvia Cristina de, Marques Olinda, Alves Marta
Abstract excerpt
Congenital adrenal hyperplasia (CAH) due to 17α-hydroxylase deficiency, a rare CAH syndrome, is characterised by failure to synthetise cortisol, adrenal androgens and gonadal steroids. The partial deficiency is much rarer, presenting with subtler symptoms. Failure to reach a proper diagnosis caus...
Topics
- Adrenal Hyperplasia, Congenital
- Adult
- Female
- Homozygote
- Humans
- Mutation
- Steroid 17-alpha-Hydroxylase