Endocrine Abstracts

A 75-year-old patient was referred to the endocrinology department following the incidental discovery of a right adrenal mass during a CT scan of abdomen and pelvis conducted due to Doppler negative unilateral leg swelling which was present for 1 month. On clinical examination, the heart rate was 82 bpm, weight 78 kg, height 155 cm, BMI 32, blood pressure 185/90 mmHg, no organomegaly or lymphadenopathy and no clinical features of hormonal excess including catecholamine or corticosteroids were detected. The initial investigations including hormone assays were unremarkable ; K+ 4.9 mmol/l, adjusted Calcium 2.47 mmol/l, Plasma metanephrine 23 ng/l (<100), Plasma normetanephrine 84 ng/l (<170), 24 hour Urine metadrenaline 0.99 umol/d (0-1.2), Urine Normetadrenaline 2.67 umol/d (0-3.3), Urine methyoxytyramine 0.79 umol/d (0-2.5), Aldosterone Renin Ratio 25.3 (<80), Overnight dexamethasone suppression test-Cortisol 69 nmol/l (0-50), Androstenedione 0.5 nmol/l (2-5.4), DHEA 0.5 umol/l (0.9-2.1), 17-hydroxyprogesterone <1.0 nmol/l, Plasma chromogranin-A 32 pmol/l (0-60) and Chromogranin-B 78 pmol/l (0-150), CA 19-9 <2 ku/l (0-27), CA 125-29 ku/l (0-35), CA 15-3 17.7 ku/l (0-26.2), CEA 2.7 mg/l (0-3.8) and Urine steroid profile normal. The CT abdomen and pelvis revealed a 6.6 × 6.4 cm heterogeneous right adrenal mass with a central cystic stellate component and abutting the IVC prompting concerns for adrenocortical carcinoma or metastasis. Completion CT chest showed no extra-adrenal malignancy. The case was discussed in the Adrenal MDT meeting, leading to a laparoscopic right adrenalectomy. Histologic examination of the right adrenal gland revealed a mass arising from adrenal medulla with central cystic degeneration. Cells were strongly positive for synaptophysin and chromogranin on immunohistochemistry. The overall features were consistent with Phaeochromocytoma with PASS score of 7. Due to the rarity of Silent Phaeochromocytoma and the substantial size of the mass at diagnosis, additional investigations including an MIBG scan and genetic testing were undertaken. The MIBG scan was unremarkable, however, next-generation sequencing (NGS) identified a pathogenic RET missense variant {2410G>A p.(Val804Met)}, confirming a genetic diagnosis of Multiple Endocrine neoplasia type-2 A (MEN-2A). Patient is now under routine endocrinology follow-ups and awaiting a DOTATATE PET-CT. In summary, silent phaeochromocytomas characterized by minimal or absent symptoms and subtle hormone elevation below traditional diagnostic thresholds, present a formidable diagnostic challenge. Individuals with familial phaeochromocytoma typically exhibit few clinical symptoms and seldom manifest the traditional triad of headache, palpitations, and sweating. This case emphasizes the importance of a nuanced diagnostic approach as undetected cases may lead to hypertensive crises and potentially fatal complications.