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Related Experiment Video

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Pituitary function and morphology in Fabry disease.

Luigi Maione1, Fabio Tortora2, Roberta Modica3

  • 1Section of Endocrinology, Department of Clinical Medicine and Surgery, University of Naples Federico II, Naples, Italy. luigi.maione@unina.it.

Endocrine
|April 22, 2015
PubMed
Summary
This summary is machine-generated.

Fabry disease (FD) commonly causes an empty sella and smaller pituitary volume in patients. Pituitary function remains largely preserved, suggesting regular endocrine monitoring for FD patients is crucial.

Keywords:
Diencephalic MRIEmpty sellaFabry diseasePituitary

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Area of Science:

  • Endocrinology
  • Neurology
  • Genetics

Background:

  • Endocrine abnormalities are recognized complications in Fabry disease (FD).
  • The pituitary gland, with its high vascularization and low cell turnover, is a potential target for FD pathology.
  • Understanding pituitary involvement in FD is crucial for comprehensive patient management.

Purpose of the Study:

  • To investigate pituitary morphology and function in a cohort of patients with Fabry disease.
  • To compare pituitary characteristics between FD patients and healthy controls.

Main Methods:

  • A prospective, monocentric study involving 28 FD patients and 42 matched controls.
  • Utilized contrast-enhanced pituitary MRI to assess morphology.
  • Evaluated pituitary hormone levels and autoantibodies (anti-pituitary, anti-hypothalamus).

Main Results:

  • An empty sella was significantly more prevalent in FD patients (39%) compared to controls (5%).
  • FD patients exhibited a significantly smaller pituitary volume than controls.
  • Pituitary volume was independently correlated with age and alpha-galactosidase enzyme activity.

Conclusions:

  • Empty sella is a frequent finding in Fabry disease, potentially indicating progressive pituitary shrinkage.
  • Despite morphological changes, pituitary function appears generally preserved in FD patients.
  • Periodic endocrine evaluation, including pituitary hormone assessment, is recommended for FD patients due to their existing cardiovascular risks.