Article
Phenotypic evolution of classic 21-hydroxylase deficiency.
Clinical endocrinology - 1 Jul 1996
Hoffman W H, Shin M Y, Donohoue P A, Helman S W, Brown S L, Rosculet G, Mahesh V B
Abstract excerpt
We describe a female patient who was diagnosed and treated at birth for a classic form of salt-losing congenital adrenal hyperplasia. At 17 years of age, against medical advice, she discontinued both mineralocorticoid and glucocorticoid replacement with no resulting clinical symptoms other than the occurrence of amenorrhoea. Steroid metabolites revealed significant abnormalities of the...
Topics
- Adolescent
- Adrenal Hyperplasia, Congenital
- Base Sequence
- Complement C4
- Exons
- Female
- Humans
- Introns
- Molecular Sequence Data
- Mutation
- Phenotype
- Polymorphism, Single-Stranded Conformational