Introduction: Xanthogranulomatous hypophysitis (XGH) is a very rare form of pituitary hypophysitis that may present both clinically and radiologically as a neoplastic lesion or craniopharyngioma. Our case series compares the paediatric and adult presentations of XGH and the differential diagnoses considered.
Case series: Patient 1: A 15-year-old female presented with refractory headache, lethargy, short stature, delayed growth (weight (−3.36) SDS, height (−1.73) SDS, and BMI 14 kg/m2), primary amenorrhoea and pubertal arrest over 18 months. Visual examination showed bitemporal quadrantanopia.
Patient 2: A 21-year-old female presented with lethargy, frontal headaches and secondary amenorrhoea, 3 years after delivery. Postpartum she had initial galactorrhoea and irregular periods, which stopped after a year. Visual examination was normal.
Patient 3: A 64-year-old female presented with multiple syncopal attacks over 7 years. A MRI scan performed for suspected vertebrobasilar insufficiency revealed a pituitary mass. There was a previous history of hypothyroidism for 20 years and hysterectomy at 39 years of age for irregular periods. Eye assessment revealed left temporal quadrantanopia. Endocrine investigations suggested panhypopituitarism in all three patients and were commenced on treatment. Patient 2 had high prolactin levels requiring Cabergoline. Pituitary MRI revealed a suprasellar mass compressing the optic chiasm suggestive of craniopharyngioma or rathkes cleft cyst in patient 1; non-functioning pituitary macroadenoma in patients 2 and 3. MRI appearance was of mixed signal intensities on T1- and T2-weighted sequences. All three patients underwent an endoscopic trans-sphenoidal surgery. Histology revealed areas with cholesterol cleft formation associated with multinucleate giant cells and numerous macrophages.
Conclusion: XGH presents with a variation of symptoms in children and adults. It is regularly mistaken for other pituitary lesions but must be considered as part of the differential diagnosis when a pituitary mass is identified through cranial imaging demonstrating mixed signal intensities on both T1- and T2-weighted images.
20 - 22 Sep 2014
European Society for Paediatric Endocrinology