title: No genetic mutation in type II 3 beta-hydroxysteroid dehydrogenase gene in patients with biochemical evidence of enzyme deficiency.
abstract: Nonclassic or the mild form of 3 beta-hydroxysteroid dehydrogenase (NC3 beta-HSD) deficiency is an entity which is identified with typical features of premature pubarche, hirsutism, or oligomenorrhea. In this study, type II 3 beta-HSD gene from 4 girls who were diagnosed as NC3 beta-HSD deficient, base on the adrenal steroidogenic responses to ACTH, was analyzed to determine whether NC3 beta-HSD deficiency was an allelic variant of classical 3 beta-HSD deficiency by polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP). We could not detect any alterations of type II 3 beta-HSD gene from these patients. Our result strongly suggests that unlike classical 3 beta-HSD deficiency, NC3 beta-HSD deficiency may be secondary adrenal biosynthetic defects, rather than dual inherited deficiencies.
authors.affiliation: Department of Pediatrics, Hokkaido University, School of Medicine, Sapporo, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Tajima
authors.forename: Y
authors.initials: Y
authors.lastname: Nishi
authors.forename: A
authors.initials: A
authors.lastname: Takase
authors.forename: J
authors.initials: J
authors.lastname: Nakae
authors.forename: M
authors.initials: M
authors.lastname: Murashita
authors.forename: K
authors.initials: K
authors.lastname: Fujieda
mesh_terms: D000293:Adolescent; D000324:Adrenocorticotropic Hormone; D001483:Base Sequence; D002648:Child; D017931:DNA Primers / Q000737:chemistry; D005260:Female; D006628:Hirsutism / Q000201:enzymology / Q000235:genetics*; D006801:Humans; D009154:Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D011375:Progesterone Reductase / Q000172:deficiency* / Q000235:genetics*; D011629:Puberty, Precocious / Q000201:enzymology / Q000235:genetics*; D017422:Sequence Analysis, DNA
chemical_list: D017931:DNA Primers; D000324:Adrenocorticotropic Hormone; D011375:Progesterone Reductase