Article
Evidence for endocrinological abnormalities in heterozygotes for adrenal 11 beta-hydroxylase deficiency of a family with the R448H mutation in the CYP11B1 gene.
The Journal of clinical endocrinology and metabolism - 1 Oct 1997
Peter M, Sippell W G
Abstract excerpt
In about 5% of cases of classical congenital adrenal hyperplasia, steroid 11 beta-hydroxylase deficiency is the underlying defect. In two publications, no biochemical abnormalities have been reported in obligate heterozygotes for 11 beta-hydroxylase deficiency. We found the typical plasma steroid...
Topics
- Adrenal Glands
- Adrenal Hyperplasia, Congenital
- Adrenocorticotropic Hormone
- Adult
- Base Sequence
- Child, Preschool
- Cortodoxone
- Desoxycorticosterone
- Endocrine System Diseases
- Exons
- Female
- Heterozygote
- Humans
- Introns
- Male
- Mutation
- Pedigree
- Puberty, Precocious