title: Pituitary function and morphology in Fabry disease.
abstract: Endocrine abnormalities are known to affect patients with Fabry disease (FD). Pituitary gland theoretically represents an ideal target for FD because of high vascularization and low proliferation rate. We explored pituitary morphology and function in a cohort of FD patients through a prospectic, monocentric study at an Academic Tertiary Center. The study population included 28 FD patients and 42 sex and age-matched normal subjects. The protocol included a contrast enhancement pituitary MRI, the assessment of pituitary hormones, anti-pituitary, and anti-hypothalamus antibodies. At pituitary MRI, an empty sella was found in 11 (39%) FD patients, and in 2 (5%) controls (p < 0.001). Pituitary volume was significantly smaller in FD than in controls (p < 0.001). Determinants of pituitary volume were age and alpha-galactosidase enzyme activity. Both parameters resulted independently correlated at multivariate analysis. Pituitary function was substantially preserved in FD patients. Empty sella is a common finding in patients with FD. The major prevalence in the elderly supports the hypothesis of a progressive pituitary shrinkage overtime. Pituitary function seems not to be impaired in FD. An endocrine workup with pituitary hormone assessment should be periodically performed in FD patients, who are already at risk of cardiovascular complications.
authors.affiliation: Section of Endocrinology, Department of Clinical Medicine and Surgery, University of Naples Federico II, Naples, Italy. luigi.maione@unina.it.
authors.forename: Luigi
authors.initials: L
authors.lastname: Maione
authors.affiliation: Institute of Clinical and Experimental Medicine, "F. Magrassi - A. Lanzara", Dipartimento di Diagnostica per Immagini, Second University of Naples, Naples, Italy.
authors.forename: Fabio
authors.initials: F
authors.lastname: Tortora
authors.affiliation: Section of Endocrinology, Department of Clinical Medicine and Surgery, University of Naples Federico II, Naples, Italy.
authors.forename: Roberta
authors.initials: R
authors.lastname: Modica
authors.affiliation: Section of Endocrinology, Department of Clinical Medicine and Surgery, University of Naples Federico II, Naples, Italy.
authors.forename: Valeria
authors.initials: V
authors.lastname: Ramundo
authors.affiliation: Department of Nephrology, University of Naples Federico II, Naples, Italy.
authors.forename: Eleonora
authors.initials: E
authors.lastname: Riccio
authors.affiliation: Dipartimento di Scienze e Tecnologie Ambientali Biologiche Farmaceutiche, Second University of Naples, Naples, Italy.
authors.forename: Aurora
authors.initials: A
authors.lastname: Daniele
authors.affiliation: Institute of Clinical and Experimental Medicine, "F. Magrassi - A. Lanzara", Dipartimento di Diagnostica per Immagini, Second University of Naples, Naples, Italy.
authors.forename: Maria Paola
authors.initials: MP
authors.lastname: Belfiore
authors.affiliation: Section of Endocrinology, Department of Clinical Medicine and Surgery, University of Naples Federico II, Naples, Italy.
authors.forename: Annamaria
authors.initials: A
authors.lastname: Colao
authors.affiliation: Department of Nephrology, University of Naples Federico II, Naples, Italy.
authors.forename: Antonio
authors.initials: A
authors.lastname: Pisani
authors.affiliation: Section of Endocrinology, Department of Clinical Medicine and Surgery, University of Naples Federico II, Naples, Italy. afaggian@unina.it.
authors.forename: Antongiulio
authors.initials: A
authors.lastname: Faggiano
mesh_terms: D000328:Adult; D004652:Empty Sella Syndrome / Q000209:etiology*; D000795:Fabry Disease / Q000150:complications*; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D010900:Pituitary Diseases / Q000209:etiology / Q000378:metabolism / Q000473:pathology
keywords: Diencephalic MRI; Empty sella; Fabry disease; Pituitary