Hipofizer disfonksiyonu olan Fabry hastası: alışılmadık bir görünüm

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

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,

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