Article
New insight into the molecular basis of 3beta-hydroxysteroid dehydrogenase deficiency: identification of eight mutations in the HSD3B2 gene eleven patients from seven new families and comparison of the functional properties of twenty-five mutant enzymes.
The Journal of clinical endocrinology and metabolism - 1 Dec 1999
Moisan A M, Ricketts M L, Tardy V, Desrochers M, Mébarki F, Chaussain J L, Cabrol S, Raux-Demay M C, Forest M G, Sippell W G, Peter M, Morel Y, Simard J
Abstract excerpt
Classical 3beta-hydroxysteroid dehydrogenase/delta5-delta4 isomerase (3betaHSD) deficiency is a form of congenital adrenal hyperplasia that impairs steroidogenesis in both the adrenals and gonads resulting from mutations in the HSD3B2 gene and causing various degrees of salt-wasting in both sexes and incomplete masculinization of the external genitalia in genetic males. To identify the molecular lesion(s) in the...
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