Pituitary morphovolumetric changes in Alström syndrome

Valentina Citton, Pietro Maffei, Jan D. Marshall, Alessandro Baglione, Gayle B. Collin, Gabriella Milan, Roberto Vettor, Jürgen K. Naggert, Renzo Manara

Research output: Contribution to journalArticlepeer-review


Purpose: 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

Original languageEnglish
JournalJournal of Neuroradiology
Publication statusAccepted/In press - 2015


  • ALMS1
  • Alström syndrome
  • Empty sella
  • MRI
  • Pituitary gland

ASJC Scopus subject areas

  • Clinical Neurology
  • Radiology Nuclear Medicine and imaging
  • Radiological and Ultrasound Technology


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