Cushing’s Disease in a Patient with MEN 2B Syndrome
| Autor: | Milan Vrkljan, Domagoj Marjan, Davor Vagić, Gorana Mirošević, Ivan Kruljac, Nina Dabelić, Božidar Perić, Kristina Blaslov |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
Adult
Male Pediatrics medicine.medical_specialty business.industry Adrenal Gland Neoplasms General Medicine Cushing's disease Multiple Endocrine Neoplasia Type 2b medicine.disease MEN 2B syndrome Cushing’s disease pheochromocytoma medullary thyroid carcinoma endocrine neoplasia type 2B (MEN 2B) medicine Humans Lymph Nodes Thyroid Neoplasms business Pituitary ACTH Hypersecretion |
| Popis: | 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 |
| Databáze: | OpenAIRE |
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