Literature DB >> 2865141

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

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

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.

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Year:  1985        PMID： 2865141     DOI： 10.1007/bf00451960

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


  11 in total

1.  Clinical features of autosomal dominant and sex-linked ichthyosis in an English population.

Authors:  R S Wells; C B Kerr
Journal:  Br Med J       Date:  1966-04-16

2.  Maldescent of the testis.

Authors:  L Spitz
Journal:  Arch Dis Child       Date:  1983-11       Impact factor: 3.791

3.  Steroid sulphatase deficiency and hypogonadism.

Authors:  G Andria; A Ballabio; G Parenti; S DiMaio; A Piccirillo
Journal:  Eur J Pediatr       Date:  1984-09       Impact factor: 3.183

4.  Steroid sulphatase deficiency associated with testis cancer.

Authors:  G Lykkesfeldt; H Høyer; A E Lykkesfeldt; N E Skakkebaek
Journal:  Lancet       Date:  1983 Dec 24-31       Impact factor: 79.321

5.  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.

Authors:  M Münke; K Kruse; M Goos; H H Ropers; M Tolksdorf
Journal:  Eur J Pediatr       Date:  1983-10       Impact factor: 3.183

6.  Steroid sulphatase in man: a non inactivated X-locus with partial gene dosage compensation.

Authors:  G Lykkesfeldt; A E Lykkesfeldt; N E Skakkebaek
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

7.  Abnormal androgen and oestrogen metabolism in men with steroid sulphatase deficiency and recessive X-linked ichthyosis.

Authors:  G Lykkesfeldt; P Bennett; A E Lykkesfeldt; S Micic; S Møller; B Svenstrup
Journal:  Clin Endocrinol (Oxf)       Date:  1985-10       Impact factor: 3.478

8.  Ichthyosis vulgaris with hypogenitalism and hypogonadism: evidence for different genotypes by lipoprotein electrophoresis and steroid sulfatase testing.

Authors:  H Traupe; C R Müller-Migl; G Kolde; R Happle; P M Kövary; H Hameister; H H Ropers
Journal:  Clin Genet       Date:  1984-01       Impact factor: 4.438

9.  Quantification of human seminiferous epithelium. I. Histological studies in twenty-one fertile men with normal chromosome complements.

Authors:  N E Skakkebaek; C G Heller
Journal:  J Reprod Fertil       Date:  1973-03

10.  Clinical spectrum of steroid sulfatase deficiency: X-linked recessive ichthyosis, birth complications and cryptorchidism.

Authors:  H Traupe; R Happle
Journal:  Eur J Pediatr       Date:  1983-03       Impact factor: 3.183
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  3 in total

1.  Cloning of a cDNA for steroid sulfatase: frequent occurrence of gene deletions in patients with recessive X chromosome-linked ichthyosis.

Authors:  J M Bonifas; B J Morley; R E Oakey; Y W Kan; E H Epstein
Journal:  Proc Natl Acad Sci U S A       Date:  1987-12       Impact factor: 11.205

2.  Membrane transporters for sulfated steroids in the human testis--cellular localization, expression pattern and functional analysis.

Authors:  Daniela Fietz; Katharina Bakhaus; Britta Wapelhorst; Gary Grosser; Sabine Günther; Jörg Alber; Barbara Döring; Sabine Kliesch; Wolfgang Weidner; Christina E Galuska; Michaela F Hartmann; Stefan A Wudy; Martin Bergmann; Joachim Geyer
Journal:  PLoS One       Date:  2013-05-08       Impact factor: 3.240

Review 3.  The Regulation of Steroid Action by Sulfation and Desulfation.

Authors:  Jonathan W Mueller; Lorna C Gilligan; Jan Idkowiak; Wiebke Arlt; Paul A Foster
Journal:  Endocr Rev       Date:  2015-07-27       Impact factor: 19.871
  3 in total

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