Endocrine Abstracts

Introduction: Multiple endocrine neoplasia (MEN) are inherited conditions of autosomal dominant transmission characterized by the occurrence of various associated endocrine lesions. We report an observation of a patient with a rare association of medullary thyroid carcinoma and bilateral pheochromocytoma with cushing’s disease.

Observation: The patient was H.B, 18 years old, followed for a medullary thyroid carcinoma (MTC) since 2018 discovered at the stage of pulmonary and lymph node metastasis, having benefited from a total thyroidectomy with right lymph node curage, classified as T2N1bM1 with the presence of numerous images of emboli (6N+/12N)

Clinically: the patient presents lingual and subconjunctival neuromas, with large purple stretch marks on the flanks, the roots of the lower limbs, and the subaxillary region, associated with signs of hyper androgenism.

Para-clinical: calcitonin at 44600 pg/ml, with metanephrines at 2.53 umol/24h (0.20-1.50), with adrenal CT: two adrenal nodules, measuring 13.5 X 11.5 mm on the left, and 12.5 X 12.5 mm on the right, of spontaneous density, at 40 HU, with enhancement after injection of PDC, Cortisolemia of 8 h after a minute braking test at 14. 5 mg/d, with ACTH: 34 pg/ml (10-50), we completed by a pituitary MRI which objectified a pico adenoma of 2.9 X 2.6 mm. The genetic study did not reveal any mutations in exons 10 and 11, exons 15 and 16 were not studied. The patient underwent bilateral lymph node resection and left adrenalectomy in the first stage, with a control calcitonin level of 3360 pg/ml, a right adrenalectomy is planned.

Conclusion: NEM 2B is an autosomal dominant syndrome characterized by a variable association of pheochromocytoma, CMT, mucosal and subconjunctival neuromas, with a marfanoid and a ganglioneuromatosis, although exceptional, the association with a cushing disease is very rare.