Internal Medicine
Online ISSN : 1349-7235
Print ISSN : 0918-2918
ISSN-L : 0918-2918
Possible Thyroidal Involvement in a Case of Fabry Disease
Katsuyoshi TOJOMakoto OOTAHidehiko HONDAToshiaki SHIBASAKIOsamu SAKAI
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JOURNALS FREE ACCESS

1994 Volume 33 Issue 3 Pages 172-176

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Abstract

Endocrinological evaluations of a 48-year-old man with Fabry disease revealed low levels of serum thyroid hormones and high levels of serum thyrotropin (TSH), indicating that the patient had primary hypothyroidism. Also, an exaggerated growth hormone (GH) response to hypoglycemic stimuli was observed. Thin layer chromatography of the lipid extract of the thyroid gland obtained by biopsy demonstrated marked accumulation of ceramide trihexoside (CTH) and ceramide dihexoside (CDH). These findings strongly suggest that thyroid hypofunction and hypothalamic dysfunction could be involved in Fabry disease.
(Internal Medicine 33: 172-176, 1994)

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