Naslov
Cushing’s Disease in a Patient with MEN 2B Syndrome

Autori
Kruljac, Ivan ; Dabelić, Nina ; Marjan, Domagoj ; Blaslov, Kristina ; Perić, Božidar ; Mirošević, Gorana ; Vagić, Davor ; Vrkljan, Milan

Izvornik
American journal of medicine (0002-9343) 133 (2020), 2; E46-e47

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
Cushing’s disease, pheochromocytoma, medullary thyroid carcinoma, endocrine neoplasia type 2B (MEN 2B)

Sažetak
A 28-year-old male presented with arterial hypertension and type 2 diabetes mellitus, gradually developing over the last 18 months. Both hypertension and diabetes were inadequately controlled with maximal daily doses of perindopril, amlodipine, metformin, and dapagliflozin. His previous photograph taken 5 years ago showed a lean male with marfanoid features and bumpy lips. Current physical examination disclosed increased blood pressure (148/92 mmHg), a body mass index of 28.2 kg/m2, facial plethora, and a “buffalo hump” (Figure B). Endocrinological evaluation was carried out in order to make the diagnosis of secondary hypertension and secondary diabetes mellitus. Increased 24-hour urinary metanephrine (16, 880 nmol/24 hours, normal < 1300) and normetanephrine (10, 273 nmol/24 hours, normal < 2800) were found, which were highly suggestive of pheochromocytoma. Moreover, the diagnosis of adrenocorticotropic hormone (ACTH)-dependent Cushing’s disease was made: ACTH 10.1 pmol/L (normal 2.2-13.3), serum cortisol following 1 mg dexamethasone suppression test of 701 nmol/L, and 24-hour urinary-free cortisol of 4754 nmol/24 hours (normal 72-325). Due to previously evident marfanoid features and suspicion of pheochromocytoma, multiple endocrine neoplasia type 2B (MEN 2B) syndrome was suspected. Increased serum calcitonin (1649 ng/L, normal <18.2) and serum carcinoembryonic antigen (162 ng/L, normal <5) were suggestive of medullary thyroid carcinoma.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

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