Endocrine Abstracts

History: 57yrs old gentleman presented with c/o-Shortness of breath confusion weakness Tired Having poor appetite Poor mobility generally unwell.

P/M/H: Diagnosed with Medullary Thyroid Carcinoma as a part of MEN2A at the age of 32 yrs had a thyroidectomy and lymph node clearance in 1997 followed by a few months later by sternotomy and mediastinal node resection. Bony metastasis. Residual Horner’s syndrome. Developed Renal, liver and Bone metastasis with a mass in the lung with a mild Left sided Pleural Effusion Received Chemotherapy and 6 cycles of Radiotherapy 1st April 2019; Calcitonin 54,500 ng/l, CEA 472 mg/l. Plasma metanephrines and parathyroid hormone normal. Calcitonin 73,000 ng/lOctober 2019; Calcitonin 75,000 ng/lJuly 2020

Investigations-CT Thorax, Abd and Pelvis: 15/11/2022 CTAP-Large Pleural effusion. There is a large left pleural effusion encasing the lung, which has developed since August 2021. In addition, there is a mass encasing the arch of the aorta extending in a pretracheal position and related to the left hilum extending into the left upper lobe. Left adrenal mass likely as a result of metastatic medullary thyroid cancer

Case Management during Hospitalisation: Admitted with shortness of breath and confusion on 15/11/2022 secondary to left sided pleural effusion. Effusion was drained and talc pleurodesis was performed. Pleural effusion was transudate with no malignant cells and was likely secondary to ongoing malignancy Incidentally was found to have hypokalaemia and hypocalcemia on admission. Was on furosemide for his chronic pericardial effusion. Electrolytes replacement were refractory to IV replacement and serum cortisol levels were high raising suspicion of ectopic ACTH. Psychosis noted. Was admitted in ITU for refractory hypokalemia, hypocalcemia and hypomagnesemia. Free cortisol [Urine] 11392 nmol/lFree cortisol output [24hr urine] 27364 nmol/24h H <146

Treatment: Furosemide was replaced by Spironolactone to minimise renal losses. Metyrapone was started and dose was titrated up without any complications 500 mg TDS aiming cortisol of 300-500. Electrolytes were corrected. Cortisol levels dropped. Also the chronic diarrhoea was due to calcitonin producing tumor was controlled with loperamide and cholestyramine,

Block and Replace Regimen- Ketoconazole 400 mg TDS (inc from 200 mg TDS on 10/1/23), Metyrapone 5 caps TDS (inc from 4 caps 10/1/23); Spironolactone 100 mg OD, Dexamethasone 500mg BD.

Diagnoses: 1. MEN 2A syndrome (634 mutation). 2. Metastatic medullary thyroid cancer with extensive bone metastases 3. Ectopic ACTH Dependent Cushing’s Syndrome

Definitive Management-

Scheduled for bilateral Adrenalectomy

Genetics-His father-carrier, sister-positive MEN2A, Sister’s son-MEN2A, his daughter-positive MEN2A,