Urinary excretion of 17-hydroxypregnanolones in patients with different forms of congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency
✍ Scribed by J. Homoki; J. Sólyom; U. Wachter; W. M. Teller
- Publisher
- Springer
- Year
- 1992
- Tongue
- English
- Weight
- 478 KB
- Volume
- 151
- Category
- Article
- ISSN
- 0340-6997
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The steroid 21-hydroxylase enzyme (P450c21) is a member of the cytochrome P450 gene superfamily and is essential in the synthesis of cortisol and aldosterone. Defects in the P450c21B gene cause congenital adrenal hyperplasia (CAH), a common genetic disorder leading to virilization of newborn females
An adrenal size index (ASI) was specifically designed to improve ultrasound evaluation of adrenal size in the 1st year of life. In 84 newborns and infants, ASI and plasma dehydroepiandrosterone sulphate (DHEA-S) concentrations were determined to study in vivo changes in adrenal size and cortical zon