No Genetic Mutation in Type II 3β-Hydroxysteroid Dehydrogenase Gene in Patients with Biochemical Evidence of Enzyme Deficiency

Publisher Website
Google Scholar
Abstract
Nonclassic or the mild form of 3β-hydroxysteroid dehydrogenase (NC3β-HSD) deficiency is an entity which is identified with typical features of premature pubarche, hirsutism, or oligomenorrhea. In this study, type II 3β-HSD gene from 4 girls who were diagnosed as NC3β-HSD deficient, based on the adrenal steroidogenic responses to ACTH, was analyzed to determine whether NC3β-HSD deficiency was an allelic variant of classical 3β-HSD deficiency by polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP). We could not detect any alterations of type II 3β-HSD gene from these patients. Our result strongly suggests that unlike classical 3β-HSD deficiency, NC3β-HSD deficiency may be secondary adrenal biosynthetic defects, rather than dual inherited deficiencies.

This publication has 0 references indexed in Scilit: