Lykkesfeldt G, Müller J, Skakkebaek N E, Bruun E, Lykkesfeldt A E
Eur J Pediatr. 1985 Sep;144(3):273-4. doi: 10.1007/BF00451960.
We present a 14-year-old boy with recessive X-linked ichthyosis in whom only one testis could be found. In this apparently normal testis, a lack of activity of the enzyme steroid sulphatase was demonstrated. Several male patients with recessive X-linked ichthyosis have been reported to have testicular diseases, and it is suggested that this may be related to the absence of testicular steroid sulphatase activity.
我们报告一名患有隐性X连锁鱼鳞病的14岁男孩，其仅发现一个睾丸。在这个外观正常的睾丸中，证实缺乏类固醇硫酸酯酶的活性。据报道，数名患有隐性X连锁鱼鳞病的男性患者患有睾丸疾病，提示这可能与睾丸类固醇硫酸酯酶活性缺乏有关。
