Pituitary Gland Duplication Syndrome: An International Imaging Analysis

Area of Science:

• Developmental biology
• Neuroimaging
• Genetics

Background:

• Pituitary gland duplication is a rare congenital anomaly.
• Associated craniofacial malformations are frequently observed.
• Previous series reported a maximum of 5 patients; this study expands the cohort to 10.

Purpose of the Study:

• To detail the imaging features of pituitary gland duplication.
• To explore a unifying pathogenesis for associated malformations.
• To expand the understanding of this rare condition.

Main Methods:

• Retrospective review of imaging in 10 patients with pituitary stalk and gland duplication.
• Analysis of clinical presentations and imaging findings.
• Genetic analysis performed on 6 patients.

Main Results:

• All patients exhibited normal imaging of the duplicated pituitary gland and stalk.
• Consistent findings included hypothalamic ventral midline prominence, limited ventral myeloschisis, and cervical segmentation anomalies.
• Brainstem patterning defects, corpus callosum abnormalities, and oropharyngeal teratomas were also noted. Genetic analysis revealed various mutations and duplications.

Conclusions:

• Pituitary gland duplication is associated with a distinct phenotype of craniofacial and cervical spine malformations.
• Axial mesoderm duplication, potentially leading to excess Sonic Hedgehog signaling, is proposed as the primary embryologic driver.