Lchthyosis vulgaris with hypogenitalism and hypogonadism: evidence for different genotypes by lipoprotein electrophoresis and steroid sulfatase testing*
作者:
H. Traupe,
C. R. Müller‐Migl,
G. Kolde,
R. Happle,
P. M. Kövary,
H. Hameister,
H. H. Ropers,
期刊:
Clinical Genetics
(WILEY Available online 1984)
卷期:
Volume 25,
issue 1
页码: 42-51
ISSN:0009-9163
年代: 1984
DOI:10.1111/j.1399-0004.1984.tb00461.x
出版商: Blackwell Publishing Ltd
关键词: Genetic heterogeneity;hypogenitalism;ichthyosis vulgaris;lipoprotein electrophoresis;steroid sulfatase deficiency
数据来源: WILEY
摘要:
We report two cases with ichthyosis vulgaris, hypogenitalism and hypogonadism. So far, little endocrinological information has been available on this association and the exact type of ichthyosis was unknown. Our first patient suffered from very severe hypergonadotropic hypogonadism, whereas the second patient showed normal levels of luteinizing hormone, but slightly elevated follicle stimulating hormone values. In lipoprotein electrophoresis we found fast moving beta‐lipoproteins in the first patient and a normal electrophoretic mobility of pre‐beta and beta‐lipoproteins in the second patient. Correspondingly, steroid sulfatase (STS) testing revealed STS deficiency in the first patient and normal STS activity in the second patient, thus excluding X‐linked recessive ichthyosis. These two different types in the association of ichthyosis with hypogenitalism and hypogonadism could not be discriminated by clinical, morphological and cytogenetic
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