Format

Send to

Choose Destination
J Neuroradiol. 2016 Jun;43(3):195-9. doi: 10.1016/j.neurad.2015.10.005. Epub 2015 Dec 17.

Pituitary morphovolumetric changes in Alström syndrome.

Author information

1
University Hospital of Padua, Department of Neuroradiology, 35100 Padua, Italy. Electronic address: valentinacitton@gmail.com.
2
Internal Medicine, Department of Medicine, University Hospital of Padua, Padua, Italy.
3
The Jackson Laboratory, Bar Harbor, Maine, USA.
4
Department of Neurosciences, University of Padua, Padova, Italy.
5
Department of Neurosciences,Neuroradiology Unit, University of Salerno, Salerno, Italy.

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<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.

KEYWORDS:

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

PMID:
26704672
PMCID:
PMC5510590
DOI:
10.1016/j.neurad.2015.10.005
[Indexed for MEDLINE]
Free PMC Article

Supplemental Content

Full text links

Icon for Elsevier Science Icon for PubMed Central
Loading ...
Support Center