Endocrine Abstracts

We present a case of a 24 year old lady with known SDHB mutation. She was referred from the genetics clinic in view of a strong family history of premature paraganglioma at the age of 17. On initial clinic assessment she exhibits no symptoms suggestive of paraganglioma or pheochromocytoma. Her blood pressure is normal at 120/75. pulse of 60–80bpm. Physical examination was unremarkable Her Plasma normetanephrine done on two separate occasion were elevated at 1600 pmol/l and 2157.5 pmol/l (upper limit 1180) urine normetanephrine 5.7 umol/24 hours (upper limit 3), raised urine metanephrine at 6.4 umol/24 hrs. Her 123I-MIBG scan 1 year ago showed physiological distribution in the salivary glands, liver, supra renal regions and bowel with excreted activity in the urinary bladder. SPECT/CT images of the abdomen suggested some enhancement in the left pelvis in but it was felt likely to be normal activity from an ovary given her age. An MRI of the abdomen was normal and octreotide scan show no scintigraphic evidence of avid octreotide disease, tracer uptake was normal. She subsequently presented with urinary symptoms with increased frequency and constant pressure in the bladder. with persistently elevated metanephrines. An ultrasound scan of her pelvis showed an irregular solid highly vascular mass which measures 24 × 20 × 21 mm. A repeat MRI neck, chest abdomen and pelvis found a 24 mm likely paraganglioma exophytic of the left wall of the bladder. Her MRI pituitary gland was normal. She was alpha and beta-blocked prior to surgery. She undergone an open excision and partial cystectomy for her paraganglioma. Her histology findings are consistent with a perivesical paraganglioma with Ki67 proliferation index of (1–2%). Her urinary function has returned to normal and she is due further follow up by the endocrinology team.

Conclusion: Urinary bladder paraganglioma is an unusual tumour arising from chromaffin cells of the sympathetic system of the urinary bladder wall accounting for < 0.05% of all bladder neoplasms, often occurs in young female. (1) They are frequently located at the dome or the trigone of the bladder and may be non-functional or functional (2) Mutations in SDHB are the most commonly found gene mutations and are associated with younger ages at presentation, higher rates of metastases and poorer prognosis(1) We highlight the value of pelvic ultrasound in screening and diagnosis of bladder paraganglioma as the sensitivity for detection of familial PHEO and paranganglioma through MIBG scintigraphy is about 53–60.9%.(3)