Tajima T, Nishi Y, Takase A, Nakae J, Murashita M, Fujieda K
Department of Pediatrics, Hokkaido University, School of Medicine, Sapporo, Japan.
Horm Res. 1997;47(2):49-53. doi: 10.1159/000185430.
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.
非经典型或轻度3β-羟类固醇脱氢酶（NC3β-HSD）缺乏症是一种具有青春期前阴毛早现、多毛症或少经等典型特征的疾病。在本研究中，对4名根据促肾上腺皮质激素（ACTH）刺激后的肾上腺类固醇生成反应被诊断为NC3β-HSD缺乏症的女孩，采用聚合酶链反应-单链构象多态性（PCR-SSCP）技术分析其II型3β-HSD基因，以确定NC3β-HSD缺乏症是否为经典3β-HSD缺乏症的等位基因变异。我们未检测到这些患者II型3β-HSD基因有任何改变。我们的结果强烈提示，与经典3β-HSD缺乏症不同，NC3β-HSD缺乏症可能是继发性肾上腺生物合成缺陷，而非双重遗传缺陷。
