A test for heterozygocity of 21-hydroxylase deficiency
โ Scribed by J. Homoki; W. M. Teller; A. T. A. Fazekas
- Publisher
- Springer
- Year
- 1976
- Tongue
- English
- Weight
- 370 KB
- Volume
- 32
- Category
- Article
- ISSN
- 0340-6717
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๐ SIMILAR VOLUMES
We describe three different forms of 21-hydroxylase deficiency-classical congenital adrenal hyperplasia (CAH), late-onset 21-hydroxylase deficiency, and cryptic 21-hydroxylase deficiency-and we present hormonal standards by which to assign the appropriate 21-hydroxylase deficiency genotype for these
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency is a common autosomal-recessive disorder. To ascertain carrier status, adrenocorticotropin (ACTH) stimulation tests are often used. To determine the sensitivity of ACTH stimulation to detect heterozygotes and to correlate stimulated 17-