Disorder of Multiple Endocrine Systems

Question 1

Multiple Endocrine Neoplasia

Answer 1

A group of similar syndromes
characterized by predisposition to
the development of multiple
endocrine tumors.

Question 2

MEN Syndromes are caused by
different Germline Mutations,
meaning these are _____

Answer 2

hereditary

Question 3

MEN Syndromes are Inherited as ___

Answer 3

Autosomal Dominant Traits

Question 4

MEN Type 1 is also known
as ____

Answer 4

Wermer’s Syndrome

Question 5

MEN Type 1 mutation

Answer 5

The menin gene on Chromosome 11

Question 6

Mean life expectancy of MEN 1

Answer 6

about 55 years

Question 7

Individuals with MEN 1 should
be offered regular tumor
screening with imaging and
labs starting at age ____

Answer 7

5

Question 8

MEN Type 1 tumor development

Answer 8

Most commonly, tumor development involves the parathyroid glands, endocrine pancreas, and pituitary gland

Question 9

Enteropancreatic Tumors in MEN type 1

Answer 9

Usually a Gastrinoma
(secretes Gastrin) or an
Insulinoma (secretes insulin)

Question 10

Gastrinomas can cause ____ Syndrome with peptic ulcers.

Answer 10

Zollinger Ellison

Question 11

MEN Type 1 pituitary adenomas occur in about ___% of MEN 1 cases

Answer 11

42%

Question 12

Other tumors commonly seen in
MEN 1 include

Answer 12

○ Adrenal adenomas- usually benign and nonfunctioning
○ Benign Thyroid adenomas
○ Carcinoid tumors (frequently
malignant)
○ Non-Endocrine tumors (angiofibromas or lipomas)

Question 13

MEN Type 2 (2A) is also known as ____

Answer 13

Sipple’s Syndrome

Question 14

MEN 2 mutation

Answer 14

Ret proto-oncogene on
Chromosome 10

Question 15

______ account for the difference between
MEN 2 and MEN 3 (or 2A and 2B)

Answer 15

Variations between mutations of this
gene: Ret proto-oncogene on Chromosome 10

Question 16

Patients with MEN Type 2A commonly develop the following
pattern of Endocrine conditions

Answer 16

Medullary Thyroid Carcinoma, Hyperparathyroidism, and
Pheochromocytomas

Question 17

MEN Type 3 (2B) mutation

Answer 17

Ret proto-oncogene on
Chromosome 10, just like MEN 2A

Question 18

However, unlike MEN 2A, patients with MEN 2B do not
develop _____

Answer 18

Parathyroid Hyperplasia or Adenomas.

Question 19

Just like MEN 2A, patients with MEN 2B will develop.

Answer 19

○ Pheochromocytomas (around 60%)
○ Medullary Thyroid Carcinoma (around 80%)

Question 20

Other unique characteristics of MEN Type 2B include the
development of the following

Answer 20

Mucosal Neuromas-
■ Bumpy and enlarged tongue and lips.
■ Occurs in more than 90% of cases
Marfan-like body habitus: Long, slender body with hyperflexible joints

Question 21

MEN Type 4 mutation

Answer 21

mutations in the gene CDKN1B of chromosome 12

Question 22

MEN 4 tumors

Answer 22

These patients are prone to Pituitary Adenomas, Parathyroid
Hyperplasia, and Neuroendocrine tumors of the Pancreas
○ They also seem to be prone to adrenal tumors, renal
tumors, testicular cancer, and cervical cancer

Question 23

Polyglandular Autoimmune Syndromes

Answer 23

groups of disorders caused by autoimmune attack

Question 24

Accounts for about 80% of
spontaneous cases of Adrenal
Insufficiency

Answer 24

Addisons disease
*May occur alone or as part of a PGA
Syndrome

Question 25

PGA Type 1

Answer 25

● An autosomal recessive disorder. ● Also known as APECED- Autoimmune Polyendocrinopathy- Candidiasis-Ectodermal Dystrophy

Question 26

Classic triad of PGA type 1

Answer 26

○ Early childhood mucocutaneous Candidiasis ○ Hypoparathyroidism (autoimmune) ○ Teenage onset of Adrenal Insufficiency

Question 27

PGA Type 2

Answer 27

● No identifiable pattern of inheritance has been established. ● PGA Type 2 is the most common of the PGA syndromes.

Question 28

Classic triad of PGA 2

Answer 28

○ Autoimmune Thyroid Disease ■ Thyroiditis with hypo, or Graves with Hyper ○ Type 1 Diabetes Mellitus ○ Adrenal Insufficiency

Question 29

_____ remains the only form of treatment for those with Polyglandular Autoimmune Syndromes.

Answer 29

Hormonal replacement therapy

Question 30

T/F when you find one endocrine abnormality, you should stop there

Answer 30

F - keep going in case it is MEN