title: Pituitary morphovolumetric changes in Alström syndrome.
abstract: OBJECTIVE
  Alström syndrome (AS) is a rare monogenic ciliopathy characterized by cone-code dystrophy, leading to early blindness, and obesity. Early endocrinological dysfunctions, especially growth hormone deficiency and hypogonadism, are detected in about half of AS patients. This MRI study investigates the presence of pituitary gland abnormalities in a large cohort of AS patients.
  
  
  METHODS
  Pituitary morphological changes (gland flattening with partial or total empty sella) were evaluated on midsagittal high-resolution T1-weighted images of 32 AS patients (mean-age 23.2±9.4 years; range: 6-45, 15 females) and 21 unrelated healthy subjects (mean age 23.2±11.2 years; range: 6-43; 10 females).
  
  
  RESULTS
  Among AS patients, 11/32 (34%) had total empty sella and 6/32 (19%) partial empty sella, while 3/21 (14%) of controls had partial empty sella and none presented with total empty sella (P<0.005). AS patients harboring a total or partial empty sella did not differ from those with normal pituitary gland for gender (P=0.98), BMI (P=0.10) or visual impairment (P=0.21), while the presence of empty sella was associated with an older age (P=0.007) being especially frequent above the age of 30.
  
  
  CONCLUSIONS
  Total or partial empty sella appears commonly during the course of AS. Pituitary gland flattening might represent the morphological underpinning of subtle endocrinologic dysfunctions and raises the need to further investigate the pituitary function in this rare ciliopathy.
authors.affiliation: University Hospital of Padua, Department of Neuroradiology, 35100 Padua, Italy. Electronic address: valentinacitton@gmail.com.
authors.forename: Valentina
authors.initials: V
authors.lastname: Citton
authors.affiliation: Internal Medicine, Department of Medicine, University Hospital of Padua, Padua, Italy.
authors.forename: Pietro
authors.initials: P
authors.lastname: Maffei
authors.affiliation: The Jackson Laboratory, Bar Harbor, Maine, USA.
authors.forename: Jan D
authors.initials: JD
authors.lastname: Marshall
authors.affiliation: Department of Neurosciences, University of Padua, Padova, Italy.
authors.forename: Alessandro
authors.initials: A
authors.lastname: Baglione
authors.affiliation: The Jackson Laboratory, Bar Harbor, Maine, USA.
authors.forename: Gayle B
authors.initials: GB
authors.lastname: Collin
authors.affiliation: Internal Medicine, Department of Medicine, University Hospital of Padua, Padua, Italy.
authors.forename: Gabriella
authors.initials: G
authors.lastname: Milan
authors.affiliation: Internal Medicine, Department of Medicine, University Hospital of Padua, Padua, Italy.
authors.forename: Roberto
authors.initials: R
authors.lastname: Vettor
authors.affiliation: The Jackson Laboratory, Bar Harbor, Maine, USA.
authors.forename: Jürgen K
authors.initials: JK
authors.lastname: Naggert
authors.affiliation: Department of Neurosciences,Neuroradiology Unit, University of Salerno, Salerno, Italy.
authors.forename: Renzo
authors.initials: R
authors.lastname: Manara
mesh_terms: D000293:Adolescent; D000328:Adult; D056769:Alstrom Syndrome / Q000000981:diagnostic imaging* / Q000473:pathology*; D002648:Child; D004652:Empty Sella Syndrome / Q000000981:diagnostic imaging / Q000473:pathology; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D010902:Pituitary Gland / Q000000981:diagnostic imaging* / Q000473:pathology*; D012189:Retrospective Studies; D055815:Young Adult
keywords: ALMS1; Alström syndrome; Empty sella; MRI; Pituitary gland