Pituitary dysfunction of the patient with Fabry disease: an unusual presentation

Authors : Gamze AKKUŞ, Saime PAYDAS

Pages : 733-736

Doi:10.17826/cumj.1219901

View : 45 | Download : 125

Publication Date : 2023-07-02

Article Type : Other Papers

Abstract :Fabry is a multisystemic disease mainly affecting heart, kidney, central nervous system and endocrine system with intralysosomal glycolipid accumulation. Although thyroid and adrenal gland involvement has been demonstrated in limited studies, glycolipid accumulation in the pituitary could not be exhibited. A 66-year-old female patient diagnosed with Fabry Disease revealed a low level of pituitary hormone levels. Moreover, an empty sella was found in pituitary MRI. We argued that pituitary function seems impaired due to Fabry Disease, and endocrine workup should be periodically performed in patients with Fabry Disease
Keywords : fabry disease, pituitary disfunction, metabolic diseases, hypertension, lysosomal storage disorder