Article
CYP21 genotype, adult height, and pubertal development in 55 patients treated for 21-hydroxylase deficiency.
The Journal of clinical endocrinology and metabolism - 1 Dec 2003
Balsamo Antonio, Cicognani Alessandro, Baldazzi Lilia, Barbaro Michela, Baronio Federico, Gennari Monia, Bal Milva, Cassio Alessandra, Kontaxaki Krissi, Cacciari Emanuele
Abstract excerpt
In a retrospective study we evaluated long-term growth, pubertal developmental patterns to final height (FH), and medication in 55 patients (35 females) affected by 21-hydroxylase deficiency. The patients were classified into 3 groups according to predicted mutation severity: group A (11 women and 9 men), homozygous or compound heterozygous for null or In2 splice mutations [residual enzymatic activity (RA), <1%];...
Topics
- Adrenal Hyperplasia, Congenital
- Aging
- Body Height
- Child
- Child, Preschool
- Female
- Fertility
- Genotype
- Humans
- Infant
- Infant, Newborn
- Male
- Mineralocorticoids