Article
Congenital adrenal hyperplasia owing to 3 beta-hydroxysteroid dehydrogenase deficiency.
Endocrinology and metabolism clinics of North America - 1 Mar 2001
Pang S
Abstract excerpt
Recent advances in the genetics of the family of 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) enzymes have helped in the understanding of the molecular basis and hormonal phenotype of bona fide 3 beta-HSD deficiency congenital adrenal hyperplasia (CAH). This article revisits the clinical spectra of 3 beta-HSD deficiency disorders, pathophysiology of 3 beta-HSD deficiency CAH, and updates genotype findings and...
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