Article
No mutation in cytochrome P450 side chain cleavage in a patient with congenital lipoid adrenal hyperplasia.
The Journal of clinical endocrinology and metabolism - 1 Oct 1994
Sakai Y, Yanase T, Okabe Y, Hara T, Waterman M R, Takayanagi R, Haji M, Nawata H
Abstract excerpt
Molecular basis of lipoid adrenal hyperplasia (lipoid CAH) in a Japanese patient was investigated. A 46XY Japanese female patient was clinically diagnosed as having lipoid CAH based on her clinical history of adrenal crisis at birth and the low basal concentrations of cortisol, aldosterone, adrenal androgens and testosterone in serum. In vitro studies of testicular mitochondrial enzymes confirmed a specific...
Topics
- Adolescent
- Adrenal Hyperplasia, Congenital
- Adrenodoxin
- Base Sequence
- Cholesterol Side-Chain Cleavage Enzyme
- Disorders of Sex Development
- Female
- Ferredoxin-NADP Reductase
- Hormones
- Humans