Article
How a patient homozygous for a 30-kb deletion of the C4-CYP 21 genomic region can have a nonclassic form of 21-hydroxylase deficiency.
The Journal of clinical endocrinology and metabolism - 1 Dec 2000
L'Allemand D, Tardy V, Grüters A, Schnabel D, Krude H, Morel Y
Abstract excerpt
A case of nonclassic (NC) 21-hydroxylase deficiency, with a moderately elevated 17-hydroxyprogesterone level (145 nmol/L in filter paper blood spot), was detected in newborn screening. The newborn's phenotype was female, with no sign of virilization. Confirmatory diagnosis revealed elevated serum levels of 17-hydroxyprogesterone and of 21-desoxycortisol, whereas cortisol, PRA, and electrolytes were normal....
Topics
- 17-alpha-Hydroxyprogesterone
- Adrenal Hyperplasia, Congenital
- Alleles
- Amino Acid Sequence
- Base Sequence
- Blotting, Southern
- Female
- Gene Deletion
- Genome, Human
- Homozygote
- Hormones