Article
Superior discriminating value of ACTH-stimulated serum 21-deoxycortisol in identifying heterozygote carriers for 21-hydroxylase deficiency.
Clinical endocrinology - 1 Dec 2010
Costa-Barbosa Flávia A, Tonetto-Fernandes Vânia F, Carvalho Valdemir M, Nakamura Odete H, Moura Vivian, Bachega Tânia A S S, Vieira José G H, Kater Claudio E
Abstract excerpt
BACKGROUND: Congenital adrenal hyperplasia caused by classic 21-hydroxylase deficiency (21OHD) is an autosomal recessive disorder with a high prevalence of asymptomatic heterozygote carriers (HTZ) in the general population, making case detection desirable by routine methodology. HTZ for classic and nonclassic (NC) forms have basal and ACTH-stimulated values of 17-hydroxyprogesterone (17OHP) that fail to...
Topics
- Adolescent
- Adrenal Hyperplasia, Congenital
- Adrenocorticotropic Hormone
- Adult
- Child
- Child, Preschool
- Chromatography, Liquid
- Cortodoxone
- Female
- Genetic Carrier Screening