G. Lykkesfeldt

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Serum levels of sex hormone binding globulin (SHBG), testosterone, free testosterone, dihydrotestosterone, androstenedione, dehydroepiandrosterone sulphate, oestradiol, oestrone, oestrone sulphate, FSH, and LH were measured in 20 steroid sulphatase-deficient men with recessive X-linked ichthyosis and in normal men. The serum oestrone sulphate level was(More)
Twenty-three cases of placental steroid sulfatase deficiency are reported. All children were boys who later acquired ichthyosis of the recessive X-linked type. The steroid sulfatase deficiency was present in placental tissue, umbilical cord leucocytes, and cultured skin fibroblasts of affected boys. An antepartum diagnosis can be obtained either by(More)
Recessive X-linked ichthyosis (RXLI) is consistently associated with steroid sulphatase deficiency, and a definite diagnosis can be made by measurement of the activity of this enzyme, e.g. in cultured skin fibroblasts and leucocytes. Demonstrating an increased electrophoretic mobility of plasma low-density lipoprotein in RXLI patients has been proposed as a(More)
Seventy-six ichthyotic male patients with a biochemically confirmed diagnosis of steroid sulphatase deficiency are reported. Ascertainment was based on either a previous diagnosis of placental steroid sulphatase deficiency (21 probands and 15 secondary cases), or ichthyosis with steroid sulphatase deficiency (29 probands and 11 secondary cases). The(More)
Steroid sulphatase (STS) activity was measured with two different steroid substrates in leucocytes from normal human males and females, from females heterozygous for STS deficiency and recessive X-linked ichthyosis, and from individuals with numerical X chromosome aberrations. The results indicate non-inactivation with a partial gene dosage compensation at(More)
Sera from foetal calves, newborn calves, athymic mice, and healthy postmenopausal women exert a growth inhibitory effect on the oestrogen receptor positive human breast cancer cell line MCF-7. This inhibitory effect of serum can be abrogated by oestradiol. Serum samples from 22 breast cancer patients were analysed for the amount of inhibitory activity in(More)
Four males, the sons of 2 sisters, apparently have a new syndrome of mental retardation, seizures and psoriasis. Due to the relationship between the affected males we propose the inheritance to be X-linked recessive although cosegregation of two separate disorders may be occurring. Psoriasis has never been reported as a monogenic disorder. Results of(More)
A detailed clinical study of 76 males with steroid sulphatase deficiency confirmed the ichthyosis of this disorder to be identical with the classical descriptions of recessive X-linked ichthyosis. The appearance of regular ichthyotic scaling seems in most instances to be heralded by a general peeling of the skin. This characteristic feature was registered(More)
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(More)