POSSIBLE THYROIDAL INVOLVEMENT IN A CASE OF FABRY DISEASE

Authors
TOJO K OOTA M HONDA H SHIBASAKI T SAKAI O
Citation
K. Tojo et al., POSSIBLE THYROIDAL INVOLVEMENT IN A CASE OF FABRY DISEASE, Internal medicine, 33(3), 1994, pp. 172-176
Citations number
NO
Categorie Soggetti
Medicine, General & Internal
Journal title
Internal medicine → ACNP
ISSN journal
09182918
Volume
33
Issue
3
Year of publication
1994
Pages
172 - 176
Database
ISI
SICI code
0918-2918(1994)33:3<172:PTIIAC>2.0.ZU;2-2
Abstract
Endocrinological evaluation of a 48-year-old man with Fabry disease re vealed low levels of serum thyroid hormones and high levels of serum t hyrotropin (TSH), indicating that the patient had primary hypothyroidi sm. Also, an exaggerated growth hormone (GH) response to hypoglycemic stimuli was observed. Thin layer chromatography of the lipid extract o f the thyroid gland obtained by biopsy demonstrated marked accumulatio n of ceramide trihexoside (CTH) and ceramide dihexoside (CDH). These f indings strongly suggest that thyroid hypofunction and hypothalamic dy sfunction could be involved in Fabry disease.