Pituitary morphovolumetric changes in Alström syndrome.
Document Type
Article
Publication Date
6-1-2016
JAX Location
Reprint Collection
JAX Source
J Neuroradiol 2016 Jun; 43(3):195-9
Volume
43
Issue
3
First Page
195
Last Page
199
ISSN
0150-9861
PMID
26704672
Grant
HD036878
Abstract
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
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.
J Neuroradiol 2016 Jun; 43(3):195-9
Recommended Citation
Citton V,
Maffei P,
Marshall JD,
Baglione A,
Collin GB,
Milan G,
Vettor R,
Naggert JK,
Manara R.
Pituitary morphovolumetric changes in Alström syndrome. J Neuroradiol 2016 Jun; 43(3):195-9