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What does MEN stand for?
multiple endocrine neoplasia
what does galactorrhea stand for?
milk production from breast that is unrelated to pregnancy
what is amenorrhea?
Absence of menstrual period
what is an adenoma?
benign tumor of glandular epithelial origin. Adenocarcinoma is malignant.
What is usually the cause of primary hyperparathyroidism?
Parathyroid adenoma
What organs are commonly involved in MEN1,2A,2B
MEN1: Pancreas(other GI), A Pituitary, Parathyroid.
MEN2A: Parathyroid, Thyroid (Med thyroid tumors)
MEN2B: Thyroid (Med thyroid tumors), Mucosa
other non endocrine organs may be involved such as the thymus
What is the gremlin mutation in MEN1
Mutation in MEN1 gene 11q13. Autosomal dominant.
why was esomeprazole prescribed to the patient?
PPI for acid secretion due to Zollinger Ellison
What is usually the first finding in MEN1 syndrome?
Parathyroid adenoma in 90% of the cases. Patients will exhibit hyperparathyroidism symptoms first.
What is the germline mutation in MEN2A and 2B?
over expression of RET gene in chromosome 10. Autosomal dominant. Gain of function in proto-oncogene that stimulates tyrosine kinase.
compare and contrast stimulation and suppression tests.
In stimulation tests, you will give analogs of a releasing hormone or trophic and see the secondary changes. expected increased trophic hormone or target. example is giving ACTH to see cortisol rise
Suppression test, you give target hormone to see changes. Expected to lower target hormone. Example is give dexamethasone to see drop in cortisol
What was the cause of the patients upper GI hemorrhage?
likely due to the constant ulcers.
If a patient presents with hyperparathyroid issues and secondary hypertension what genetic testing will you do?
MEN2A
If your patient presents with masses on the tongue and hypocalcemia what are you suspecting?
MEN2B. Medullary thyroid tumor and mucosal neuroma.
What is the size threshold between a microadenoma and macroadenoma.
1cm
Why did the patient present with gastric mucosal thickening during endoscopic biopsy?
MEN is involved with gastrinomas; gastrin induces growth, ,motility, and acid production in gastric mucosa.
In the event of a pituitary adenoma, what are the expected hormone levels of each:
releasing hormone, trophic hormone, target hormone.
Releasing hormone: low
Trophic hormone: high
Target hormone: low
When you stain a tissue after biopsy, can you tell that tissue si likely secreting?
No, stains will tell you the lineage of the cells not what they secrete.
What are some expected effects of a transphenoidal hypophysectomy?
hypopituitarism
What are some inhibiting and stimulating factors of prolactin release?
inhibition: somatostatin, GABA, dopamin, prolactin
stimulating: TRH, sleep, estrogen
Why was a prophylactic thymectomy indicated?
MEN syndromes can give rise to non endocrine tumors like thymic carcinoma. Could also be associated to ectopic parathyroid resection.
Parathyroid and thymus have come from a common embryologic location.
What caused the impairment of glucose regulation in our patient?
The patient likely had a mixed secreting tumor that released prolactin and GH. She had elevated IGF levels leading to insulin resistance.
What is the two hit hypothesis mutation involved in MEN1
There must be an initial gene mutation in the tumor suppressor that gives susceptibility for the second random hit to initiate the tumor growth.
Menin will need to be mutated in both gene copies to allow the tumor to grow.
Why was our patient at risk of developing bilateral hemiopsia?
Size of adenoma can compress optic chiasma
Can a non functional pituitary adenoma be treated with octreotide?
not generally, octreotide is given to inhibit hormone release such as GH. Octreotide will not change the size of the tumor. Nonfuctional are only masses