Article
21-hydroxylase deficiency transiently mimicking combined 21- and 11beta-hydroxylase deficiency.
Journal of pediatric endocrinology & metabolism : JPEM - 1 May 2008
Tonetto-Fernandes Vânia, Lemos-Marini Sofia H V, De Mello Maricilda P, Ribeiro-Neto Luciane M, Kater Claudio E
Abstract excerpt
21-Hydroxylase deficiency (21OHD) is the commonest form of congenital adrenal hyperplasia, while 11betaOHD represents 5% of cases. Although both result from mutations in distinct genes, cases of 'apparent' combined 21OHD and 11betaOHD (AC21,11OHD) have been occasionally reported. A 6 year-old girl, born with ambiguous genitalia and salt-loss, had serum elevations (ng/dl) of androstenedione (>1,000),...
Topics
- Adrenal Hyperplasia, Congenital
- Androstenedione
- Child
- Cortodoxone
- Diagnosis, Differential
- Female
- Humans
- Mutation
- Steroid 11-beta-Hydroxylase
- Steroid 21-Hydroxylase