Possible thyroidal involvement in a case of Fabry disease.
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.
Tojo
K
K
Second Department of Internal Medicine, Jikei University School of Medicine, Tokyo.
Oota
M
M
Honda
H
H
Shibasaki
T
T
Sakai
O
O
D000795:Fabry Disease / Q000150:complications* / Q000235:genetics / Q000378:metabolism; D006028:Glycosphingolipids / Q000378:metabolism; D013006:Growth Hormone / Q000097:blood; D006801:Humans; D007037:Hypothyroidism / Q000209:etiology* / Q000378:metabolism / Q000473:pathology; D008297:Male; D008875:Middle Aged; D013961:Thyroid Gland / Q000378:metabolism; D013963:Thyroid Hormones / Q000097:blood
D006028:Glycosphingolipids; D013963:Thyroid Hormones; C013869:ceramide dihexoside; C088880:ceramide trihexoside; D013006:Growth Hormone