Multiple Endocrine Neoplasia (MEN) with Case

00:01 Let's go on to another case.

00:03 A 21 year old woman is seen in the office following parathyroidectomy for hyperparathyroidism The pathology showed hyperplasia.

00:12 Her medical history is significant for oligomenorrhea.

00:16 Her family history is notable for hypercalcemia and kidney stones in her father who died at the age of 49 from pancreatic cancer and a pituitary tumor in her sister at the age of 16.

00:28 Her vital signs are normal and her skin findings include a dermatofibroma.

00:34 Her physical examination is normal with no signs of hypercalcemia.

00:39 What is the most likely diagnosis? With this complex constellation and presentation, this younger patient has hyperparathyroidism, a family history of pancreatic cancer and pituitary tumors coupled with the presence of a dermatofibroma in clinical exam.

00:57 This should raise the suspicion for multiple endocrine neoplasia.

01:01 The conclusion here is the patient most likely has the MEN type 1 syndrome Multi-gland hyperplasia causing primary hyperparathyroidism should lead to further investigations with this patient's family history of primary hyperparathyroidism Multiple endocrine neoplasia type 1 is the most common type.

01:23 In addition to genetic testing, MEN1 can be discriminated from other disorders by personal or family history of recurrent primary hyperparathyroidism and neoplasms in other endocrine tissues.

01:36 most prominently in your endocrine tumors arising from the pancreas and tumors of the pituitary gland as occurring in this patient's family history.

01:44 And then finally, the presence of dermatofibromas of the skin is classic for the MEN1 phenotype.