Xanthomatous Hypophysitis Presenting in an Adolescent Girl: A Long-Term Follow-Up of a Rare Case and Review of the Literature

Abstract

Objective: Primary hypophysitis refers to the isolated inflammation of the pituitary gland not associated with other secondary causes. Among its histopathologic subtypes, xanthomatous is the rarest.

Methods: We describe a 22-year-old woman with xanthomatous hypophysitis (XH), its clinical progression over 8 years as well as the treatment effects of prednisolone and azathioprine. Our patient was first referred for severe short stature and delayed puberty at the age of 14 years.

Results: Investigations revealed multiple pituitary deficiencies. Magnetic resonance imaging showed a pituitary mass whereby a partial resection was performed. A full resection was not feasible due to the location of the mass. The histopathologic analysis of the tissue was consistent with XH. The results of secondary workout for neoplasm, infection, autoimmune, and inflammatory disorders were negative. After surgery, a progressive enlargement of the mass was observed. Two courses of prednisolone were administered with a significant reduction in the mass size. Azathioprine was added due to the unsustained effects of prednisolone when tapered off and the concern of steroid toxicity with continued use. No further increase in the mass size was noted after 6 months on azathioprine.

Conclusion: Glucocorticoid and immunotherapy are treatment options for XH; however, more cases are needed to better understand its pathogenesis and clinical progression.

Keywords: AP, anterior-posterior; CC, cranio-caudal; DI, diabetes insipidus; LH, lymphocytic hypophysitis; MRI, magnetic resonance imaging; W, width; XH, xanthomatous hypophysitis; pituitary mass; primary hypophysitis; suprasellar mass; xanthomatous hypophysitis.

Fig. 1

Growth chart of the patient.

Fig. 2

Sagittal T1-weighted MRI image shows a homogenous contrast-enhancing lobulated suprasellar mass upon first presentation measuring 0.6 × 1.3 × 1.7 cm (AP × W × CC). AP = anterior-posterior; CC = cranio-caudal; MRI = magnetic resonance imaging; W = width.

Fig. 3

A, Histopathologic examination of the excised tissue shows a predominant infiltration of xanthomatous histiocytes with abundant foamy cytoplasm, which are admixed with lymphocytes, a few neutrophils, and eosinophils (hematoxylin-eosin; original magnification, x200). B, CD163 immunohistochemistry highlights the histiocytes (original magnification, x200). C, Absence of CD1a-positive histiocytes (original magnification, x200).

Fig. 4

Sagittal and coronal T1-weighted MRI images with contrast show comparison in the mass size before the first course of prednisolone (2.1 × 1.2 × 1.6 cm [AP × W × CC]) and the reduction in size after 6 months (1.2 × 1.0 × 1.4 cm [AP × W × CC]). AP = anterior-posterior; CC = cranio-caudal; MRI = magnetic resonance imaging; W = width.