Endocrine Associations_PATHOMA

Question 1

What is the #1 cause of ENDOGENOUS CUSHING SYNDROME?

Answer 1

CUSHING DISEASE - ACTH-secreting pituitary adenoma

Question 2

Which causes of CUSHING SYNDROME will there be bilateral adrenal hyperplasia? (BAH)

Answer 2

1. CUSHING DISEASE - ACTH Secreting pituitary adenoma

2. PARANEOPLASTIC ACTH SECRETION (Small cell lung carcinoma, bronchial carcinoids)

Question 3

DECREASED ACTH (Corticotropin). What are the only 2 possible causes of CUSHING SYNDROME?

Answer 3

ACTH-independent CUSHING SYNDROME: Exogenous corticosteroids + adrenal adenoma
Excess cortisol is NOT dependent on a high level of ACTH

Question 4

INCREASED ACTH (CORTICOTROPIN). What are the only 2 possible causes of CUSHING SYNDROME?

Answer 4

ACTH-DEPENDENT CAUSES: 
Cushing Disease (ACTH-secreting pituitary adenoma) + Ectopic paraneoplastic ACTH secretion by small cell lung carcinoma

Question 5

Bilateral atrophy of adrenal glands. What cause of Cushing Syndrome am I?

Answer 5

EXOGENOUS CORTICOSTEROIDS - MORE COMMON

Non-functioning adenoma of anterior pituitary

Question 6

UNILATERAL ATROPHY, UNILATERAL HYPERTROPHY of adrenal glands. What cause of Cushing Sydnrome am I?

Answer 6

Adrenal Adenoma/hyperplasia/carcinoma

Question 7

What is the most common type of CONGENITAL ADRENAL HYPERPLASIA?

Answer 7

21-beta hydroxylase deficiency

Question 8

Which type of CAH do you get HYPOTENSION + HYPERKALEMIA?

Which type of CAH do you get HYPERTENSION + HYPOKALEMIA?

Answer 8

HYPOTENSION + HYPERKALEMIA - 21-beta hydroxylase deficiency

HTN + HYPOKALEMIA - 11OH-ase and 17-OHase deficiency

Question 9

Why do you get HTN with 11-OHase deficiency?

Answer 9

Bec you still get 11-DEOXYCORTISONE (weak mineralocorticoid) production -> HTN

Question 10

What is common in all types of CAH?

Answer 10

LOW CORTISOL -> Loss of negative feedback -> HIGH ACTH -> Bilateral adrenal hyperplasia

Question 11

Which types of CAH is there HIGH 17-OH progesterone and which type(s) has LOW 17-OH progesterone?

Answer 11

HIGH - 21-OHase, 11-OHase deficiency (shunting towards androgen pathway)
LOW - 17-OHase deficiency (shunting AWAY from androgen/GC pathway, and only towards MC pathway)

Question 12

What is the most common cause of PRIMARY HYPERALDOSTERONISM

Answer 12

CONN SYNDROME (primary adrenal adenoma hypersecreting aldosterone)

Question 13

What is the most common cause of SECONDARY HYPERALDOSTERONISM in females? in males?

Answer 13

FEMALES: FIBROMUSCULAR DYSPLASIA
MALES: ATHEROSCLEROSIS
Both are causes of renovascular HTN

Question 14

How does one distinguish between PRIMARY and SECONDARY/TERTIARY ADRENAL INSUFFICIENCY in terms of clinical signs?

Answer 14

PRIMARY - YES hyperpigmentation, HYPERKALEMIA

SECONDARY/TERTIARY - NO hyperpigmentation, NO Hyperkalemia

Question 15

What is the most common bacterial organism associated with ACUTE PRIMARY ADRENAL INSUFFICIENCY?

Answer 15

NEISSERIA MENINGITIDIS

Question 16

What is the classic syndrome of ACUTE PRIMARY ADRENAL INSUFFICIENCY

Answer 16

WATERHOUES-FRIDERICHSEN SYNDROME

Question 17

What is the most common cause of CHRONIC PRIMARY ADRENAL INSUFFICIENCY in the Western world?

Answer 17

Autoimmune destruction

Question 18

What is the most common cause of CHRONIC PRIMARY ADRENAL INSUFFICIENCY in the developing world?

Answer 18

TB

Question 19

What is the #1 cause of CUSHING SYNDROME?

Answer 19

EXOGENOUS CORTICOSTEROIDS

Question 20

What is the most common tumor of the adrenal medulla in ADULTS?

Answer 20

PHEOCHROMOCYTOMA

Question 21

What is the most common tumor of the adrenal medulla in children

Answer 21

NEUROBLASTOMA

Question 22

What are the 90%s of PHEOCHROMOCYTOMA?

Answer 22

BOAS: Benign, onesided, adrenal only, sporadic

Question 23

In 10% of the HEREDITARY PHEOCHROMOCYTOMA cases, what are the 3 common genetic mutations?

Answer 23

**RETgene mutation [proto-oncogene]- MEN2A/MEN2B
VHL
NF-1 gene [RAS oncogene regulator] - neurofibromatosis

Question 24

Name the 3 carcinomas of MEN2A and MEN2B.

Answer 24

MEN2A: Medullary carcinoma of thyroid + Pheo + Parathyroid adenoma
MEN2B: “ + “ + ganglioneuroma of oral mucosa

Question 25

VHL increases the risk of which 3 conditions?

Answer 25

1. Renal cell carcinoma (RCC), 3pdel, CLEAR CELL VARIANT (CCC) 2. Hemangioblastoma of the cerebellum 3. Pheochromocytoma

Question 26

What are the 3 main clinical features to look out for in PHEOCHROMOCYTOMA? Are PHEO pts volume depleted or volume overloaded?

Answer 26

PAROXYSMAL HTN Cutaneous Pallor Tachycardia/Palpitations VOLUME DEPLETED

Question 27

BROWN TUMOR. What should I think of?

Answer 27

PHEOCHROMOCYTOMA

Question 28

What is the standard Tx protocol for a PHEOCHROMOCYTOMA Tx?

Answer 28

PHENOXYBENZAMINE or -zosins (alpha blockers) -> BETA BLOCKER -> Surgical Resection Pharmacotherapy given before surgical resection to prevent hypertensive crisis during resection where touch can create a massive surge of E/NE that can be life-threatening

Question 29

Pt comes in with TENDER THYROID. What should be on the top of your Ddx?

Answer 29

SUBACUTE GRANULOMATOUS (de QUERVAIN) Thyroiditis

Question 30

40yo pts comes in with a NON-TENDER, hard as wood thyroid with dysphagia + Respiratory compromise. What does the pt MOST likely have?

Answer 30

RIEDEL FIBROSING THYROIDITIS

Question 31

80yo pt comes in with NON-TENDER Thyroid with dysphagia + respiratory compromise. What does pt MOST likely have?

Answer 31

ANAPLASTIC CARCINOMA

Question 32

Carcinomas generally like to spread to the lymph nodes. What are the 4 carcinoma exceptions to this general principle and likes instead to spread to the BLOOD (hematogenously)?

Answer 32

RENAL CELL CARCINOMA HEPATOCELLULAR CARCINOMA FOLLICULAR CARCINOMA CHORIOCARCINOMA

Question 33

Which lab findings particularly distinguish between PRIMARY and SECONDARY HYPERPARATHRYOIDISM?

Answer 33

PRIMARY - Excess PTH due to parathryoid adenoma (most common cause) - HYPERCALCEMIA, HYPOPHOSPHATEMIA SECONDARY - Excess PTH due to chronic renal failure - HYPERPHOSPHATEMIA, binds up free Ca and thus HYPOCALCEMIA

Question 34

Which hyper or hypo parathryoidism has INCREASED ALP? (alkaline phosphatase)

Answer 34

PRIMARY/SECONDARY/TERTIARY Hyperparathyroidism - all due to INCREASED PTH -> Increased osteoblast activity -> Increased ALP secretion

Question 35

Ddx of HYPOCALCEMIA + INCREASED PTH

Answer 35

SECONDARY HYPERPARATHYROIDISM | PSEUDOHYPOPARATHYROIDISM (end organ resistance to PTH)

Question 36

PERIORAL TINGLING + TROUSSEAU SIGN + CHVOSTEK SIGN | What am I?

Answer 36

HYPOPARATHYROIDISM | Trousseau and chvostek due to muscle spasm (tetany) + perioral tingle all due to hypocalcemia

Question 37

What is the genetic defect of PSUEDOHYPOPARATHYROIDISM?

Answer 37

Genetic defect of Gs-alpha subunit (downstream mediator of PTH that results in cAMP activation) -> Develops end-organ resistance to PTH

Question 38

What is the inheritance pattern of PSEUDOHYPOPARATHYROIDISM TYPE 1A (ALBRIGHT HEREDITARY OSTEODYSTROPHY)

Answer 38

AUTOSOMAL DOMINANT - inherited from mother by imprinting

Question 39

Which PSEUDOHYPOPARATHYROIDISM is inherited from the father?

Answer 39

PSEUDOPSEUDOHYPOARATHYROIDISM

Question 40

SHORT STATURE + SHORTENED 4th/5th digits

Answer 40

PSEUDOHYPOPARATHYROIDISM (BOTH TYPE 1A + PSEUDOPSUEDO)

Question 41

What are the 2 differences between PSEUDOPSEUDOHYPOPARATHYROIDISM AND PSEUDOHYPOPARATHYROIDISM TYPE 1A?

Answer 41

PSEUDOPSEUDO: No end-organ resistance to PTH + Inheritance from father Type 1A: YES, end-organ resistance to PTH + Inheritance from mother

Question 42

Which type of DIABETES MELLITUS has a stronger genetic predisposition?

Answer 42

TYPE II DM

Question 43

Obesity related to Type II DM is related to what aspect of the pathophysiology of NIDDM dvlm?

Answer 43

DECREASE IN INSULIN RECEPTORS

Question 44

What is the genetic predisposition factor of TYPE I DM (IDDM)?

Answer 44

HLA DR-3, HLA-DR4

Question 45

What are the 3 ways of diagnosing TYPE II DM (NIDDM)?

Answer 45

RANDOM GLC >200 FASTING GLC >126 GLC TOLERANCE TEST: GLC>200 2hrs after Glc loading

Question 46

What are the 3 areas of OSMOTIC DAMAGE-mediated by TYPE II DM (NIDDM)?

Answer 46

1. SCHWANN CELLS - No myelin production for PNS -> Peripheral neuropathy 2. PERICYTES OF RETINAL BV -Weakening of retinal BV wall -> Aneurysm -> Rupture = hemorrhage 3. LENS - Cataracts These 3 are locations where insulin is NOT required for cellular Glc uptake. ALDOSE REDUCTASE converts Glc to SORBITOL -> Induces osmotic damage