Let's go on to another case.
A 21 year old woman is seen in the office following
parathyroidectomy for hyperparathyroidism
The pathology showed hyperplasia.
Her medical history is significant for oligomenorrhea.
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.
Her vital signs are normal and her
skin findings include a dermatofibroma.
Her physical examination is normal
with no signs of hypercalcemia.
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.
This should raise the suspicion
for multiple endocrine neoplasia.
The conclusion here is the patient
most likely has the MEN type 1 syndrome
Multi-gland hyperplasia causing
should lead to further investigations with this
patient's family history of primary hyperparathyroidism
Multiple endocrine neoplasia
type 1 is the most common type.
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.
most prominently in your endocrine
tumors arising from the pancreas
and tumors of the pituitary gland as
occurring in this patient's family history.
And then finally, the presence of dermatofibromas
of the skin is classic for the MEN1 phenotype.