Pituitary morphovolumetric changes in Alström syndrome

Area of Science:

• Endocrinology
• Genetics
• Radiology

Background:

• Alström syndrome (AS) is a rare monogenic ciliopathy.
• AS causes cone-rod dystrophy leading to early blindness and obesity.
• Endocrinological dysfunctions like growth hormone deficiency and hypogonadism affect about half of AS patients.

Purpose of the Study:

• To investigate pituitary gland abnormalities in a large cohort of AS patients using MRI.
• To evaluate the prevalence of empty sella in AS patients compared to healthy controls.

Main Methods:

• MRI (T1-weighted, high-resolution, midsagittal) was used to assess pituitary morphology.
• 32 AS patients and 21 healthy controls were included in the study.
• Evaluated for gland flattening and partial or total empty sella.

Main Results:

• 34% of AS patients had total empty sella, and 19% had partial empty sella.
• 14% of controls had partial empty sella; none had total empty sella (P<0.005).
• Empty sella was associated with older age (especially >30 years) but not gender, BMI, or visual impairment.

Conclusions:

• Total or partial empty sella is a common finding in Alström syndrome.
• Pituitary gland flattening may underlie endocrinological dysfunctions in AS.
• Further investigation of pituitary function in AS is warranted.