Article
Congenital Adrenal Hyperplasia with Combined 21-hydroxylase deficiency and 17α-hydroxylase/17,20-lyase deficiency: An undervirilized male.
European journal of medical genetics - 1 Jun 2024
Kara Leyla, Cicek Dilek, Siraz Ulku Gul, Erdogan Murat, Sarikaya Emre, Gok Ebru, Berber Ugur, Kurtoglu Selim, Kendirci Mustafa, Hatipoglu Nihal
Abstract excerpt
21-hydroxylase deficiency stands as the most prevalent form of congenital adrenal hyperplasia, primarily resulting from mutations in the CYP21A2 gene. On the other hand, mutations within the CYP17A1 gene lead to 17α-hydroxylase/17,20-lyase enzyme deficiencies. The scarcity of 17-OH deficiency is noteworthy, accounting for less than 1% of all congenital adrenal hyperplasia cases. The male patient, born from a...
Topics
- Humans
- Adrenal Hyperplasia, Congenital
- Male
- Steroid 17-alpha-Hydroxylase
- Steroid 21-Hydroxylase
- Adolescent
- Mutation