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

doi:10.1007/BF00451960

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

9 Citationer (Scopus)

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.

Originalsprog	Engelsk
Tidsskrift	European Journal of Pediatrics
Vol/bind	144
Udgave nummer	3
Sider (fra-til)	273-4
Antal sider	2
ISSN	0340-6199
DOI	https://doi.org/10.1007/BF00451960
Status	Udgivet - sep. 1985
Udgivet eksternt	Ja

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10.1007/BF00451960

Citationsformater

@article{96d70a91f6b54da9a403c1d8aa5b5ce0,

title = "Absence of testicular steroid sulphatase activity in a boy with recessive X-linked ichthyosis and testicular maldescent",

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.",

keywords = "Adolescent, Cryptorchidism/complications, Genes, Recessive, Humans, Ichthyosis/complications, Male, Steryl-Sulfatase, Sulfatases/metabolism, Testis/enzymology, X Chromosome",

author = "G Lykkesfeldt and J M{\"u}ller and Skakkebaek, {N E} and E Bruun and Lykkesfeldt, {A E}",

year = "1985",

month = sep,

doi = "10.1007/BF00451960",

language = "English",

volume = "144",

pages = "273--4",

journal = "European Journal of Pediatrics",

issn = "0340-6199",

publisher = "Springer",

number = "3",

}

TY - JOUR

T1 - Absence of testicular steroid sulphatase activity in a boy with recessive X-linked ichthyosis and testicular maldescent

AU - Lykkesfeldt, G

AU - Müller, J

AU - Skakkebaek, N E

AU - Bruun, E

AU - Lykkesfeldt, A E

PY - 1985/9

Y1 - 1985/9

N2 - 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.

AB - 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.

KW - Adolescent

KW - Cryptorchidism/complications

KW - Genes, Recessive

KW - Humans

KW - Ichthyosis/complications

KW - Male

KW - Steryl-Sulfatase

KW - Sulfatases/metabolism

KW - Testis/enzymology

KW - X Chromosome

U2 - 10.1007/BF00451960

DO - 10.1007/BF00451960

M3 - Journal article

C2 - 2865141

SN - 0340-6199

VL - 144

SP - 273

EP - 274

JO - European Journal of Pediatrics

JF - European Journal of Pediatrics

IS - 3

ER -

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

Abstract

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