Tanae A, Katsumata N, Sato N, Horikawa R, Tanaka T
Division of Endocrinology and Metabolism, National Children's Hospital, Tokyo, Japan.
Endocr J. 2000 Oct;47(5):629-34. doi: 10.1507/endocrj.47.629.
Congenital lipoid adrenal hyperplasia (CLAH) is an autosomal recessive disorder characterized by impaired synthesis of adrenal and gonadal steroids. It was demonstrated that loss-of-function mutations in the steroidogenic acute regulatory protein (StAR) gene cause CLAH and that 46,XX patients with CLAH develop spontaneous puberty. We had reported that three 46,XX patients with CLAH had presented spontaneous puberty and one of the patients had developed life-threatening ovarian cysts, before the etiology of CLAH had been clarified. In the present study, we analyzed their StAR gene and demonstrated mutations. Endocrinological examinations of the patients revealed that serum LH and FSH levels and their responses to the LHRH stimulation were not exaggerated before the onset of puberty. Serum LH levels and its response to LHRH were increased during puberty, whereas serum FSH levels remained within the normal range. Serum estradiol increased after the administration of human menopausal gonadotropins in the pubertal patient, suggesting that the ovary might have another system than StAR to facilitate cholesterol transport into the mitochondria. Although the patients had menstrual cycles, they remained anovulatory, and the resultant increased secretion of LH was speculated to be responsible for the development of ovarian cysts.
先天性类脂性肾上腺增生（CLAH）是一种常染色体隐性疾病，其特征为肾上腺和性腺类固醇合成受损。已证实，类固醇生成急性调节蛋白（StAR）基因的功能缺失突变会导致CLAH，且患有CLAH的46,XX患者会出现自然青春期。在CLAH的病因被阐明之前，我们曾报告3例患有CLAH的46,XX患者出现了自然青春期，其中1例患者还出现了危及生命的卵巢囊肿。在本研究中，我们分析了她们的StAR基因并证实了突变。对这些患者的内分泌检查显示，在青春期开始前，血清促黄体生成素（LH）和促卵泡生成素（FSH）水平及其对促性腺激素释放激素（LHRH）刺激的反应并未增强。青春期期间，血清LH水平及其对LHRH的反应升高，而血清FSH水平仍在正常范围内。在青春期患者中，注射人绝经期促性腺激素后血清雌二醇升高，这表明卵巢可能存在除StAR之外的其他系统来促进胆固醇转运至线粒体。尽管这些患者有月经周期，但仍无排卵，推测由此导致的LH分泌增加是卵巢囊肿形成的原因。
