Article
17-alpha-hydroxylase deficiency: a case report with clinical and molecular analysis.
Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology - 1 Jul 2010
Li Hua, Qiao Jie, Guo Hongyan
Abstract excerpt
BACKGROUND: 17alpha-Hydroxylase deficiency (17OHD) is a rare disease of congenital adrenal hyperplasia. It is characterised by hypertension, hypokalaemia, primary amenorrhoea. Deficiency of P450c17 enzyme is caused by mutation of the CYP17 gene. CASE: A 16-year-old female with genotypic 46, XY suffered from 17OHD. She presented with primary amenorrhoea, lack of secondary sexual characteristics, and hypertension....
Topics
- Adolescent
- Adrenal Hyperplasia, Congenital
- Amenorrhea
- Female
- Humans
- Hypertension
- Mutation
- Reverse Transcriptase Polymerase Chain Reaction
- Steroid 17-alpha-Hydroxylase