Article
Influence of different genotypes on 17-hydroxyprogesterone levels in patients with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Clinical endocrinology - 1 May 2000
Bachega T A, Billerbeck A E, Marcondes J A, Madureira G, Arnhold I J, Mendonca B B
Abstract excerpt
OBJECTIVE: The diagnosis of the nonclassical form of 21-hydroxylase (NC-21OH) deficiency, established before molecular studies, is based on basal 17OH-progesterone (17OH-P) values > 15 nmol/l or ACTH-stimulated 17OH-P values > 30 nmol/l. This disease is caused by mutations in the structural gene that can be grouped into three categories: A, B and C, according to the predicted level of enzymatic activity. So, the...
Topics
- 17-alpha-Hydroxyprogesterone
- Adolescent
- Adrenal Hyperplasia, Congenital
- Adrenocorticotropic Hormone
- Adult
- Alleles
- Child
- Child, Preschool
- Female
- Genotype
- Humans
- Hydrocortisone
- Male
- Middle Aged