Endocrine Abstracts

JOINT2205

Introduction: Fenestration of the pituitary infundibulum is a rare anatomical variant, often incidentally discovered on brain imaging. This case report describes a young woman with Ehlers-Danlos syndrome (EDS) who presented with frequent headaches. An magnetic resonance imaging (MRI) revealed a fenestrated pituitary infundibulum. The potential association between EDS and pituitary abnormalities is unknown. There is no known evidence about that connection in current literature.

Case Description: A 41-year-old woman with a known history of Ehlers-Danlos syndrome presented to the endocrinology clinic with MRI scan describing fenestrated pituitary infundibulum. The pituitary gland itself appeared normal in size and structure, with no evidence of adenoma or other lesions. Endocrine evaluation included assessment of the hypothalamic-pituitary-gland axes with no evidence of hormonal dysfunction.

Discussion: Fenestration of the pituitary infundibulum is a rare finding, often considered an anatomical variant without clinical significance. However, in this case, the presence of EDS raises the possibility of a connective tissue-related structural abnormality. EDS is characterized by defects in collagen synthesis, which may affect the integrity of the pituitary stalk and surrounding structures. Although functional MRI of the pituitary region could provide additional insights into potential microstructural or vascular changes, this imaging modality was not available in our clinical setting.

Conclusions: This case highlights a rare finding of a fenestrated pituitary infundibulum in a young woman with EDS. Although no endocrine dysfunction was identified, the potential link between EDS and structural pituitary abnormalities should be considered in patients with connective tissue disorders. Further studies are needed to explore this association and its clinical implications.