Endocrine Abstracts

Section 1: Case history: 23 Year old Caribbean gentleman attended A&E with several month history of non-specific headaches, changes in memory/mood and joint pains. Since the age of 5 he had been medically treated for renal stones, He had a past medical history of sickle cell trait and was not on any regular medications. There was no significant family history apart from sickle cell disease. He had initial bloods which showed serum adjusted calcium level 3.7 mmol/l and PTH 208 pmol/l. He was immediately treated with IV 0.9% saline. On review the next day he was started on IV pamidronate and had a full endocrine screen.

Section 2: Investigations: Initial blood results showed: PTH level 208 pmol/l, adjusted calcium level 3.7 mmol/l, phosphate level 0.56 mmol/l and a vitamin d level 35 nmol/l. Normal range TFTs, cortisol, GH, ILGF1 and serum glucose. Normal renal profile. 24 h urine calcium collection showed a low creatine level 3.20, calcium level in urine 2.83 making a calcium : creatinine ratio 0.9. US parathyroid was normal. NM parathyroid scan SPECT showed focal uptake in the lower left pole of the parathyroid gland likely a parathyroid adenoma. US renal showed early changes in bilateral medullary nephrocalcinosis. DEXA bone scan was normal. CT chest abdomen and pelvis showed no significant findings. ECG changes showed left venticular hypertrophy. Echocardiogram showed normal function.

Section 3: Results and treatment: Patient has been attending regularly for bone profile, vitamin d, PTH and renal review. He has been on fortnightly pamidronate infusions and has noticed a dramatic change in his memory, mood and non-specific bone pains. He continues to maintain oral hydration drinking 2–3 l water per day. He awaits for his genetic markers and parathyroidectomy.

Section 4: Conclusions and points for discussion: Most parathyroid adenomas as seen in middle aged women >55 years old. This is an interesting case of a young gentleman who presents with early onset renal stone disease since the age of 5. He has since suffered with school work and exams due to high calcium levels and this has impacted his education. This case highlights the importance of excluding genetic parathyroid adenomas. Currently at Guys and St Thomas Hospital we screen for 8 genes which are linked to >10% of inherited parathyroid adenomas in the <35 year old age category. All of these genes are autosomal dominant.