A method for identification and follow-up of patients with a steroid-21-hydroxylase deficiency
✍ Scribed by J. Sölyom; G.L. Hammond; R. Vihko
- Book ID
- 115822555
- Publisher
- Elsevier Science
- Year
- 1979
- Tongue
- English
- Weight
- 621 KB
- Volume
- 92
- Category
- Article
- ISSN
- 0009-8981
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## Abstract Steroid 21‐hydroxylase deficiency is present in more than 90% of patients with congenital adrenal hyperplasia (CAH), an inherited metabolic disorder of adrenal steroidogenesis. Impaired enzymatic activity leads to the accumulation of metabolic intermediates (progesterone and 17‐hydroxyp
Steroid 21-hydroxylase deficiency is the major cause of congenital adrenal hyperplasia (CAH). CAH due to 21-hydroxylase deficiency is divided into three classes: salt-wasting (classical), non-classical and simple virilizing, reflecting different degrees of clinical severity. Using polymerase chain r