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Hannah Endo/Repro year 2 > Endo- adrenal/ MEN syndrome pathology > Flashcards

Endo- adrenal/ MEN syndrome pathology Flashcards

1
Q

autoimmune polyendocrine syndrome type 1 vs 2

A 
type 1: (ME HAPPy)
AIRE gene mutation 
-mucocutaneous candidiasis/ thrush (IL-17 /22 Abs)
-ectodermal dystrophy (APECED) 
-hypogonadism 
-adrenalitis 
-parathyroiditis 
-pernicious anemia

type 2: (TAD)

  • thyroiditis
  • adrenalitis
  • DM (T1DM)
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2
Q

features of 21-hydroxylase deficiency non- classic form

A
  • simple virilizing syndrome (without salt wasting)
  • only a partial lack in 21 hydroxyls enzyme (some aldosterone and cortisol present but still very high ACTH production)
  • presents later in life with androgen excess leading to precocious (early) puberty in males or hirtuisism/virilization in females with acne at puberty

**MORE COMMON TYPE vs classic

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3
Q

Waterhouse Friderichsen syndrome is classically due to

A

sepsis and DIC in young children with Neisseria meningitidis infection

(is hemorrhagic necrosis of adrenal glands resulting in primary acute adrenocortical insufficiency)

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4
Q

how to dx a pheochromocytoma

A

urine and plasma metanephrines and catecholamines

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5
Q

MEN 2B

A
  1. pheochromocytoma
  2. medullary thyroid carcinoma
  3. mucosal neuromas
    (marfanoid body type)

**germline gain of function mutation in RET photo-oncogene (specific point mutation)

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6
Q

define congenital adrenal hyperplasia (CAH)

A

-AR inherited error of metabolism causes defect in cortisol production/steriodogenesis (high ACTH from decreased negative feedback leads to bilateral hyperplasia)
-most common enzyme deficiency is 21-hydroxylase
where cortisol and aldosterone production is inhibited and androgen production is increased

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7
Q

features of 21-hydroxylase deficiency classic form

A

classic : “salt wasting syndrome”

  • presents in neonates as hyponatremia (no aldosterone) and hyperkalemia, with life-threatening hypotension from salt wasting
  • females also present with genital ambiguity/virilization
  • -> clitoromegaly and fusion of labia
  • *long term consequence of adrenomedullary dysplasia
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8
Q

bilateral cortical hyperplasia of adrenal glands would be expected in ACTH _____ cushing syndrome

A

ACTH dependent (usually from cushings disease of pituitary origin)

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9
Q

how does primary ACUTE adrenocortical insufficiency present ? what are potential causes?

A
  • presents as weakness and shock (hypotension, hyponatremia, hypoglycemia, fever, ab pain, N/V)
  • causes:
    1. abrupt withdrawal of glucocorticoids/steroids (exogenous source removed without compensation)
  • long term corticosteroid/steroid use atrophies the adrenals therefore it is important to taper steroids every once in a while
  1. adrenal crisis (insufficient cortisol production- can be seen in chronic pts put under stress without adequate response to increase cortisol)
    (or could be result of Cushing syndrome tx-removal of tumor/adrenals)

3.Waterhouse Friderichsen syndrome (massive adrenal hemorrhage and hemorrhagic necrosis of adrenal gland)

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10
Q

golden solid yellow small adenoma that can be very small (<2cm) and seen in young patients. when removed see spironolactone bodies from tx, associated with high incidence of ischemic heart disease

A

aldosterone-secreting adenoma

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11
Q

patients (children) with Men 2a/b dx get prophylactic ____ before 10yo

A

thyroidectomy due to >95% chance of getting medullary thyroid carcinoma

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12
Q

tumor of chromaffin cells in adrenal medulla

A

pheochromocytoma

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13
Q

how to dx for CAH

A

serum 17-hydroxyprogesterone (should be high)

can also do ACTH stimulation test

Heel stick during routine newborn screening includes testing for 17-hydroxyorogesterone

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14
Q

signs of adrenal crisis seen in relative adrenal insufiency

A

hypotension (shock)
hyponatremia
hyperkalemia
*tx with steroid supplementation

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15
Q

what to do if you find a “adrenal incidentaloma”

A

(incidentally identified adrenal nodules on imaging)

  • proper management depends on many factors:
    1. size - (>4cm means more likely malignant )
    2. functional assays - (dexamethasone suppression test for hypercortisolism, or metanephrines for pheochromocytoma)
    3. CT enhancement details
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16
Q

what is the common etiology of secondary hyperaldosteronism

A
  • usually renal origin and RAAS defect that increases fxn
  • diruretic use
  • decreased renal perfusion from renal A. stenosis
  • arterial hypovolemia
  • pregnancy
  • renin-secreting tumors

**SEE high renin and aldosterone (PRA and PAC) on labs

17
Q

common association with autoimmune adrenalitis causes chronic insufficiency (addisons)

A

autoimmune polyendocrine syndrome (type 1 and 2)

18
Q

an adrenal cortical tumor presenting with virilization (adrenogenital syndrome) is more likely benign or malignant?

A

malignant

* carcinomas are more common than adenomas in terms of primary adrenal neoplasms

19
Q

what is the 10% rule of pheochromocytoma (5 things) ? 25% are ___?

A 
10% extra-adrenal (paraganglioma) 
10% bilateral 
10% in kids 
10% malignant (only dx when metastasis spread seen) 
10% not associated with HTN

25% are familial!!! (associated with Men 2A,2B - RET mutations, VHL, and NF type 1)

20
Q

what is APECED

A

autosommal polyendocrinopathy candidiasis, ectodermal dystrophy
-aka APST1 (type 1 )
( candidiasis infection of the skin, nails, and moist mucous membranes-mouth)
(parathyroidiits –> hypoparathyroidism)
(adrenalitis –> adrenal insufficiency

21
Q

general features of MEN syndromes

A
  • get tumors at younger ages
  • tumors more likely bilateral/multiple
  • preceding hyperplasia is often seen
  • tumors tend to be aggressive and recurrent
22
Q

anti-HTN med that is an aldosterone antagonist

A

spironolactone

23
Q

how does a patient with a pheochromocytoma present

A

(due to episodic release of catecholamines)

  • profound chronic or paroxysmal (episodic) HTN
  • HA
  • palpitations
  • tachycardia
  • sweating

-classic triad: HA, palpitations, diaphoresis

24
Q

features of adrenal medulla myelolipoma

A

benign tumor of fat and bone marrow
(megakaryocytic, erythroid precursors, myeloid cells in all stages, and adipose tissue)
-gross: yellow with red solid tumor
-can present with hemorrhage (benign but can bleed and it can be dangerous)

25
Q

features of adrenal carcinomas not seen in adenomas

A

both: incidental on radiography, and can be functional

carcinomas only: compression/invasion of adjacent structures (ex: kidneys) and virilization

26
Q

adrenal medulla is comprised of ___? and derived from ? and responsible for secretion of??

A

comprised of chromatin cells derived from neural crest

-responsible for catecholamine secretion (epinephrine and norepinephrine) —**SNS effect and under SNS control

27
Q

acute and chronic complications of a pheochromocytoma

A

acute: related to catecholamine surges
chronic: cardiomyopathy

28
Q

layers of the adrenal cortex from out to in

A
  1. capsule
  2. zona glomerulosa
  3. zona fasiculata
  4. zona reticularis
  5. medulla (inner)
29
Q

tx for CAH 21 H-deficiency

A

glucocorticoids (replenishes cortisol and provides negative feedback for ACTH suppression–> no further androgen overproduction)

mineralcorticods (replenishes aldosterone)

30
Q

what is Conns syndrome ? what does it cause? MCC?

A
  • primary hyperaldosteronism
  • MCC: idiopathic (unknown) (second is adenoma)
  • HTN (refractory HTN, adrenal mass and HTN, HTN at young age and hard to tx, severe HTN >160/100)
  • hypokalemia
  • hypomagnesemia
31
Q

MEN 1

A

*3 P’s
-parathyroid adenoma/hyperplasia (hyperparathyroidism)
-pancreatic endocrine tumor
-pituatary adenomas (lactotroph, somatotroph)
(Duodenal gastrinomas can also be seen)

*germline mutation in MEN1 tumor suppressor gene (Menin loss of function mutation)

32
Q

most important feature of adrenal carcinoma is how it act and its prognosis

A

size!
(larger than adenoma , wt > 200gm)
-because both can look really similar undermicrscope and sx therefore size is important in distinction of benign vs metastasis .. large = mass effect of compression and virilization

33
Q

how does primary CHRONIC adrenocortical insufficiency (Addison’s Disease) present ? potential causes?

A
  • long duration of malaise, fatigue
  • anoerxia, weight loss
  • joint pain
  • hyperpigmentation of skin (due to melanocyte stimulating hormone from increased ACTH)

causes:
1. MCC in west: autoimmune destruction/adrenalitis
2. MCC worldwide: TB
3. metastatic adrenal carcinoma (esp from lung)
* autoimmune adrenalitis is commonly a component of autoimmune polyendorcrine syndromes

34
Q

MEN 2A

A
  1. pheochromocytoma
  2. medullary thyroid carcinoma
  3. parathyroid hyperplasia/ adenomas (hyperparathyroidism)

*germline gain of function mutation in RET photo-oncogene

35
Q

testing for adrenocortical insufficiency

A
  1. random cortisol (if low go to step 2 )

2. ACTH stimulation test (if does increase cortisol = primary insufficiency)

36
Q

what use to be one of the most common causes of Addisons Disease (still is in underdeveloped countries)

A

TB

*would see calcified adrenals on X-ray

37
Q

___ is comprised of photoreceptor neural tissue and is responsible for melatonin secretion

A

pineal glad

38
Q

how does familial medullary thyroid carcinoma differ from MEN 2a/b

A

both have RET got mutations, however important to dintinguish the two because familial type has better prognosis and will not develop other tumors vs MEN2a/b which will need to screen for others

Hannah Endo/Repro year 2 (11 decks)

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