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一名患有隐性X连锁鱼鳞病和睾丸未降的男孩缺乏睾丸类固醇硫酸酯酶活性。

Absence of testicular steroid sulphatase activity in a boy with recessive X-linked ichthyosis and testicular maldescent.

作者信息

Lykkesfeldt G, Müller J, Skakkebaek N E, Bruun E, Lykkesfeldt A E

出版信息

Eur J Pediatr. 1985 Sep;144(3):273-4. doi: 10.1007/BF00451960.

DOI:10.1007/BF00451960
PMID:2865141
Abstract

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.

摘要

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。

相似文献

1
Absence of testicular steroid sulphatase activity in a boy with recessive X-linked ichthyosis and testicular maldescent.一名患有隐性X连锁鱼鳞病和睾丸未降的男孩缺乏睾丸类固醇硫酸酯酶活性。
Eur J Pediatr. 1985 Sep;144(3):273-4. doi: 10.1007/BF00451960.
2
Steroid sulphatase deficiency disease.类固醇硫酸酯酶缺乏症
Clin Genet. 1985 Sep;28(3):231-7. doi: 10.1111/j.1399-0004.1985.tb00391.x.
3
Steroid sulphatase deficiency in patients initially diagnosed as ichthyosis vulgaris or recessive X-linked ichthyosis.最初被诊断为寻常型鱼鳞病或X连锁隐性鱼鳞病患者的类固醇硫酸酯酶缺乏症。
Br J Dermatol. 1985 Apr;112(4):431-3. doi: 10.1111/j.1365-2133.1985.tb02316.x.
4
A new method for the determination of steroid sulphatase activity in leukocytes in X-linked recessive ichthyosis.一种用于测定X连锁隐性鱼鳞病患者白细胞中类固醇硫酸酯酶活性的新方法。
Br J Dermatol. 1983 May;108(5):567-72. doi: 10.1111/j.1365-2133.1983.tb01058.x.
5
Clinical spectrum of steroid sulfatase deficiency: X-linked recessive ichthyosis, birth complications and cryptorchidism.类固醇硫酸酯酶缺乏症的临床谱：X连锁隐性鱼鳞病、出生并发症和隐睾症。
Eur J Pediatr. 1983 Mar;140(1):19-21. doi: 10.1007/BF00661898.
6
X-linked recessive ichthyosis in three sisters: evidence for homozygosity.三姐妹患X连锁隐性鱼鳞病：纯合性证据
Br J Dermatol. 1981 Dec;105(6):711-7. doi: 10.1111/j.1365-2133.1981.tb00983.x.
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Steroid sulphatase deficiency associated with testis cancer.与睾丸癌相关的类固醇硫酸酯酶缺乏症。
Lancet. 1983;2(8365-66):1456. doi: 10.1016/s0140-6736(83)90801-2.
8
Genetic complementation of steroid sulphatase after somatic cell hybridization of X-linked ichthyosis and multiple sulphatase deficiency.X连锁鱼鳞病与多种硫酸酯酶缺乏症体细胞杂交后类固醇硫酸酯酶的基因互补
Hum Genet. 1985;70(4):315-7. doi: 10.1007/BF00295367.
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[Microsomal sulfatase deficiency in X chromosome-linked ichthyosis].[X染色体连锁鱼鳞病中的微粒体硫酸酯酶缺乏症]
Hautarzt. 1982 Feb;33(2):82-8.
10
Carrier identification in steroid sulphatase deficiency and recessive X-linked ichthyosis.
Acta Derm Venereol. 1986;66(2):134-8.

引用本文的文献

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The Regulation of Steroid Action by Sulfation and Desulfation.硫酸化和去硫酸化对类固醇作用的调节
Endocr Rev. 2015 Oct;36(5):526-63. doi: 10.1210/er.2015-1036. Epub 2015 Jul 27.
2
Membrane transporters for sulfated steroids in the human testis--cellular localization, expression pattern and functional analysis.人类睾丸中硫酸甾体的膜转运体——细胞定位、表达模式和功能分析。
PLoS One. 2013 May 8;8(5):e62638. doi: 10.1371/journal.pone.0062638. Print 2013.
3
Cloning of a cDNA for steroid sulfatase: frequent occurrence of gene deletions in patients with recessive X chromosome-linked ichthyosis.

本文引用的文献

1
Clinical features of autosomal dominant and sex-linked ichthyosis in an English population.英国人群中常染色体显性和性连锁鱼鳞病的临床特征。
Br Med J. 1966 Apr 16;1(5493):947-50. doi: 10.1136/bmj.1.5493.947.
2
Ichthyosis vulgaris with hypogenitalism and hypogonadism: evidence for different genotypes by lipoprotein electrophoresis and steroid sulfatase testing.寻常型鱼鳞病合并生殖器发育不全和性腺功能减退：通过脂蛋白电泳和类固醇硫酸酯酶检测发现不同基因型的证据。
Clin Genet. 1984 Jan;25(1):42-51. doi: 10.1111/j.1399-0004.1984.tb00461.x.
3
Steroid sulphatase in man: a non inactivated X-locus with partial gene dosage compensation.
类固醇硫酸酯酶cDNA的克隆：隐性X染色体连锁鱼鳞病患者中基因缺失的频繁发生。
Proc Natl Acad Sci U S A. 1987 Dec;84(24):9248-51. doi: 10.1073/pnas.84.24.9248.
人类类固醇硫酸酯酶：一个具有部分基因剂量补偿的未失活X位点。
Hum Genet. 1984;65(4):355-7. doi: 10.1007/BF00291559.
4
Genetic heterogeneity of the ichthyosis, hypogonadism, mental retardation, and epilepsy syndrome. Clinical and biochemical investigations on two patients with Rud syndrome and review of the literature.鱼鳞病、性腺功能减退、智力发育迟缓及癫痫综合征的遗传异质性。对两名Rud综合征患者的临床及生化研究并文献复习。
Eur J Pediatr. 1983 Oct;141(1):8-13. doi: 10.1007/BF00445661.
5
Steroid sulphatase deficiency and hypogonadism.类固醇硫酸酯酶缺乏症与性腺功能减退。
Eur J Pediatr. 1984 Sep;142(4):304-5. doi: 10.1007/BF00540260.
6
Placental steroid sulfatase deficiency: biochemical diagnosis and clinical review.胎盘类固醇硫酸酯酶缺乏症：生化诊断与临床综述
Obstet Gynecol. 1984 Jul;64(1):49-54.
7
Steroid sulphatase deficiency associated with testis cancer.与睾丸癌相关的类固醇硫酸酯酶缺乏症。
Lancet. 1983;2(8365-66):1456. doi: 10.1016/s0140-6736(83)90801-2.
8
Maldescent of the testis.睾丸下降不全
Arch Dis Child. 1983 Nov;58(11):847-8. doi: 10.1136/adc.58.11.847.
9
Clinical spectrum of steroid sulfatase deficiency: X-linked recessive ichthyosis, birth complications and cryptorchidism.类固醇硫酸酯酶缺乏症的临床谱：X连锁隐性鱼鳞病、出生并发症和隐睾症。
Eur J Pediatr. 1983 Mar;140(1):19-21. doi: 10.1007/BF00661898.
10
Quantification of human seminiferous epithelium. I. Histological studies in twenty-one fertile men with normal chromosome complements.人类生精上皮的定量分析。I. 对21名染色体组型正常的生育期男性的组织学研究。
J Reprod Fertil. 1973 Mar;32(3):379-89. doi: 10.1530/jrf.0.0320379.