Bedin M, Pointis G
INSERM U. 166, Groupe de Recherche sur l'Endocrinologie de la Reproduction, Maternité Baudelocque, Paris.
Ann Endocrinol (Paris). 1987;48(4):323-33.
Arylsulfate sulfohydrolases, ubiquitously distributed, mediate the hydrolysis of sulfoconjugated steroids found in large amounts in a variety of human tissues and fluids. The sterol sulfate sulfohydrolase (steroid sulfatase), bound to the microsomal fraction, is capable of hydrolyzing natural substrates such as cholesterol and dehydroepiandrosterone sulfates. The placenta is the richest source of the enzyme. The physiological interest of this enzymatic activity became apparent when placental steroid sulfatase deficiency was described in pregnancies with strikingly low oestrogen levels in the maternal plasma and urine. This enzymopathy appears to have only a moderate pejorative incidence on the mode of delivery, thus intervention is unnecessary unless dictated by fetal and/or maternal associated pathology. The disorder is transmitted on the X-linked recessive mode of inheritance and affected individuals, all males, present with ichthyoses of the sex-linked type. The gene coding for the steroid sulfatase enzyme has been assigned to the distal part of the X-chromosome in the Xp22.3-Xpter region which is known to escape the inactivation process. The lack of enzymatic activity in the somatic tissues of the patients is followed by an increase of the circulating sulfated steroid levels and by an accumulation of cholesterol sulfate in blood and skin. The modified electrophoretic mobility of the low-density lipoproteins, which might result from the excess of cholesterol sulfate bound to these lipoproteins, is a new diagnostic clue for the enzymopathy. Apart from the modification recognized to be systematically associated to the steroid sulfatase deficiency, numerous cases of hypogonadism and cryptorchidism have been recently described and may be considered as new clinical manifestations of this genetic disorder. Recent cloning of the gene coding for the steroid sulfatase should allow the molecular study of the etiology of this inborn error of metabolism.
芳基硫酸酯硫酸水解酶广泛分布，介导多种人体组织和体液中大量存在的硫酸结合类固醇的水解。与微粒体部分结合的甾醇硫酸酯硫酸水解酶（类固醇硫酸酯酶）能够水解天然底物，如胆固醇和硫酸脱氢表雄酮。胎盘是该酶最丰富的来源。当在孕妇中描述胎盘类固醇硫酸酯酶缺乏，且母体血浆和尿液中雌激素水平极低时，这种酶活性的生理意义就变得明显了。这种酶病似乎对分娩方式只有中度的不良影响，因此除非由胎儿和/或母体相关病理情况决定，否则无需干预。该疾病以X连锁隐性遗传方式传递，受影响个体均为男性，表现为性连锁型鱼鳞病。编码类固醇硫酸酯酶的基因已被定位到X染色体的远端Xp22.3 - Xpter区域，该区域已知逃避失活过程。患者体细胞组织中缺乏酶活性，随后循环硫酸化类固醇水平升高，血液和皮肤中硫酸胆固醇积累。低密度脂蛋白电泳迁移率的改变可能是由于这些脂蛋白结合了过量的硫酸胆固醇，这是该酶病的一个新的诊断线索。除了被认为与类固醇硫酸酯酶缺乏系统性相关的改变外，最近还描述了许多性腺功能减退和隐睾症病例，可被视为这种遗传疾病的新临床表现。最近对编码类固醇硫酸酯酶的基因进行克隆，应该能够对这种先天性代谢错误的病因进行分子研究。
