RESEARCH ON CONTROL OF STEROID HORMONE BIOSYNTHESIS

类固醇合成急性调节蛋白(STAR)在肾上腺和性腺类固醇激素生物合成的急性调节中起关键作用。STAR基因的突变最近被证明会导致先天性类脂肾上腺增生症(CLAH)。在本研究中，我们分析了STAR基因。其中两个突变是新的突变；一个是S195A突变，一个是R217T突变。我们证明，R217T突变完全取消了STAR活性，无论是异常剪接还是单一氨基酸替换。我们还证实了46，XX例CLAH患者出现了自发性青春期，但他们是无排卵的。

Steroidogenic acute regulatory protein (StAR) plays a critical role in the acute regulation of steroid hormone biosynthesisin adrenal glands and gonads. Mutations in the StAR gene have recently been demonstrated to cause congenital lipoid adrenal hyperplasia (CLAH). In the present study, we have analyzed the StAR gene. Two of the mutations were novel mutations; an S195A mutation and an R217T mutation. We demonstrated that the R217T mutation completely abolished StAR activity either the aberrant splicing or the single amino acid substitution. We also demonstrated the 46, XX patients with CLAH presented spontaneous puberty, but they were anovulatory.