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: T Tajima, Y Nishi, A Takase, J Nakae, M Murashita, K Fujieda
• Journal: Hormone research (Horm Res) Vol. 47 Issue 2 Pg. 49-53 ( 1997) ISSN: 0301-0163 [Print] Switzerland
• PMID: 9030967 (Publication Type: Comparative Study, Journal Article)

Chemical References

• DNA Primers
• Adrenocorticotropic Hormone
• Progesterone Reductase

Topics

• Adolescent
• Adrenocorticotropic Hormone
• Base Sequence
• Child
• DNA Primers (chemistry)
• Female
• Hirsutism (enzymology, genetics)
• Humans
• Mutation (genetics)
• Polymerase Chain Reaction
• Polymorphism, Single-Stranded Conformational
• Progesterone Reductase (deficiency, genetics)
• Puberty, Precocious (enzymology, genetics)
• Sequence Analysis, DNA