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Endocrine > Things I don't know: Path > Flashcards

Things I don't know: Path Flashcards

1
Q

PAX8 genetic defect

A

HYPOTHYROID

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2
Q

FOXE1 genetic defect

A

HYPOTHYROID

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3
Q

TSH receptor mutation

A

HYPOTHYROID

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4
Q

THRB mutation

A

thyroid hormone resistance syndrome

HYPOTHYROID

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5
Q

Drugs that can cause hypothyroid

A

lithium, iodides, p-aminosalicylic acid

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6
Q

What causes the broad coarse facial features in hypothyroidism?

A

mucopolysaccharide-rich edematous fluid

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7
Q

subacute lymphocytic thyroiditis (painless thyroiditis)

A 
variant of Hashimotos
goiter or hyperthyroidism
most recover
some progress to hypothyroidism
anti-thyroid peroxidase Ab
excludes women: one year after deliver, abortion or miscarriage
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8
Q

thyroid stimulating immunoglobulin

A

Ab to TSH receptor

GRAVES

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9
Q

thyroid growth stimulating immunoglobulin

A

Ab to TSH receptor

GRAVES

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10
Q

Plummer syndrome

A

hyperthyroidism due to multinodular goiter

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11
Q

goitrogens

A

interfere with thyroid hormone synthesis

Brassicaceae (Cruciferae) family: cabbage, turnips, cauliflower, brussel sprouts

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12
Q

somatic mutations of TSH receptor signaling pathway

A

toxic adenomas

toxic multinodular goiter

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13
Q

somatic mutation of TSHR

A

toxic adenoma

toxic multinodular goiter

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14
Q

mutation of GNAS

A

alpha unit of Gs

  1. toxic adenoma
  2. toxic multinodular goiter
  3. anterior pituitary adenoma (40% of GH secreting, minority of ACTH secreting)
  4. macronodular ACTH independent adrenal hyperplasia
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15
Q

RAS mutation

A

minority of follicular adenomas

shared with follicular carcinomas

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16
Q

PIK3CA mutation

A

minority of follicular adenomas

shared with follicular carcinomas

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17
Q

In what population is follicular carcinoma more prevalent?

A

area with iodine deficiency

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18
Q

moans, groans, bones, stones

A

hyperparathyroidism

depression, muscle weakness, abdominal pain, kidney stones, osteitis fibrosa cystica, bone pain

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19
Q

Sx of gonadotroph adenoma

A

FSH, LH
hypogonadism, mass effect, hypopituitarism
when deficient: more likely LH secretion is impaired
FSH predominant secreted hormone

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20
Q

CDKN1B

A

gene associated with subset of MEN-like abnormalities

familial pituitary adenomas

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21
Q

PRKAR1A

A

gene

familial pituitary adenomas

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22
Q

AIP

A

gene associated with GH adenoma patients that are young

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23
Q

atypical adenoma

A

p53 mutation

more aggressive

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24
Q

GH excess Sx (besides acromegaly/ gigantism)

A

gonadal dysfunction, diabetes mellitus, generalized muscle weakness, HTN, arthritis, CHF, increased risk GI cancer

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25
Q

How does excess GH cause DM?

A

inhibits peripheral glucose uptake
increases hepatic glucose production
compensatory hyperinsulinism leads to insulin resistance

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26
Q

PAS stain

A 
ACTH adenoma (may have hyper pigmentation)
DM: thickening of BM; hyaline sclerosis, Kimmelstiel-Wilson nodules
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27
Q

plurihormonal adenoma

A

pituitary
multiple hormones
more aggressive

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28
Q

pituitary carcinoma

A

most are functioning: PRL and ACTH most common

recognized often by metastasis

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29
Q

empty sella syndrome: primary vs. secondary

A

any condition or treatment that destroys part or all of pituitary gland
Primary: anatomic defect: subarachnoid space herniates into the sella turcica and fills up with CSF; OBESE, HTN, MULTIPLE PREGNANCIES
Secondary: mass (ex: pituitary adenoma) enlarges the sella and is surgically removed or is infarcted

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30
Q

most common hypothalamic suprasellar tumors

A

gliomas

craniopharyngiomas

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31
Q

WNT signaling pathway abnormalities

A

craniopharyngioma

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32
Q

B-catenin mutation

A

activating

craniopharyngioma

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33
Q

wet keratin

A

craniopharyngioma

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34
Q

machine oil in cysts

A

looks like cholesterol cleft on histo

craniopharyngioma

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35
Q

Diabetes is the leading cause of what three things

A
  1. end stage renal disease
  2. adult onset blindness
  3. non-traumatic lower extremity amputation
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36
Q

what does excess glucose stick to in DM?

A

everything, esp basement membranes

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37
Q

what happens to excess intracellular glucose in DM

A

sorbitol pathway to fructose (more potent glycosylator than glucose)

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38
Q

A1C, fasting glucose, oGTT

  1. diabetic
  2. prediabetic
A
  1. A1C: 6.5 or above; fasting: 126 or above; oGTT: 200 or above
  2. A1C: 5.7 to 6.4; fasting 100 to 125; oGTT: 140 to 199
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39
Q

Pitfalls in DM testing

A 
hemoglobin variant (sickle cell)
anemia
hemolysis
heavy bleeding
recent blood transfusion
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40
Q

HLA-DR3

A

Hashimotos
Graves
T1DM

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41
Q

HLA-DR5

A

Hashimotos

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42
Q

HLA-B8

A

Graves

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43
Q

HLA-DR4

A

T1DM

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44
Q

anti-insulin

A

Ab against islets

T1DM

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45
Q

anti-GAD

A

Ab against islets

T1DM

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46
Q

anti-ICA512

A

Ab against islets

T1DM

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47
Q

CTLA4 polymorphisms

A

inhibit T cell response

T1DM

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48
Q

PTPN22 polymorphisms

A

inhibit T cell response

T1DM

49
Q

insulin gene VNTRs

A

T1DM

50
Q

formation of advanced glycation end products

A

complication of DM
formed from glucose precursors and proteins
induce inflammatory cells on ENDOTHELIUM and SMOOTH MUSCLE
ROS, procoagulant, crosslinks and traps proteins in vessel walls (LDL, albumin)

51
Q

complications of DM: activation of PKC

A

VEGF: neovascularization seen in retinopathy

52
Q

disturbances in polyol pathways

A

complications of DM
in tissues that do NOT use insulin: so have HIGH intracellular glucose
glucose to sorbitol and eventually fructose: ALDOSE REDUCTASE
uses: NADPH (needed for glutathione reductase to generate GSH (an antioxidant)
sorbitol in lens: cataract formation

53
Q

Most common cause of death in DM

A
  1. MI

2. renal failure

54
Q

types of diabetic nephropathy

A
  1. glomerular lesions
  2. renal vascular lesions (arteriolosclerosis)
  3. pyelonephritis (inc. necrotizing papillitis)
55
Q

glomerular lesions in diabetic nephropathy

A
  1. BM thickens
  2. diffuse mesangial sclerosis
  3. nodular glomerulosclerosis (Kimmelstiel-Wilson disease)
56
Q

Kimmelstiel-Wilson disease

A

nodules of hyaline in glomerular capillary loops in glomerulus due to non-enzymatic glycosylation of proteins
associated with RENAL FAILURE in DM

57
Q

charcot joint (neuropathic arthropathy)

A

DM

progressive, destructive: dead bone, subluxation, extreme deformity, fibrosis, reactive new bone

58
Q

luxol fast blue

A

stains myelin blue

if see pink: segmental demyelation

59
Q

what is the first sign of diabetic neuropathy

A

segmental demyelination

autonomic (ex: bladder) and peripheral

60
Q

Why and where do diabetics get infection?

A

impaired innate immune system: (NEUTROPHILS) due to too much glucose
skin, feet, lungs, urinary tract

61
Q

How does hyperglycemia impair neutrophils?

A

neutrophils: upregulate CD11b
endothelial cells: upregulate ICAM-1, VCAM-1, E-selectin
ADHESIVE phenotype impairs neutrophil exit from blood vessels to infection

62
Q

pancreatic NETs (neuroendocrine tumors)

A

rare
most: middle age, sporadic, non-functioning
MALIGNANT
metastases: LIVER
CHROMOGRANIN A (not specific)
associations: MEN-1, von Hippel Lindau syndrome, neurofibromatosis-1, tuberous sclerosis
SALT and PEPPER; NESTs or CORDs
graded on: MITOTIC FIGURES, Ki-67
stains not helpful: stain does not correlate with secretion

63
Q

What is the exception to a pancreatic NET being malignant?

A

micro adenoma or insulinoma

64
Q

von Hippel Lindau syndrome

A

PANCREATIC NETs
PHEOCHROMOCYTOMA
cysts of kidney, liver, epididymis
renal cell carcinoma (clear cell type), angiomas, cerebellar hemangioblastoma

65
Q

neurofibromatosis-1

A

pancreatic NETs

66
Q

tuberous sclerosis

A

pancreatic NETs

67
Q

How are carcinomas diagnosed?

A

based on LOCAL INVASION and DISTANT METASTASIS

68
Q

glucagonoma (alpha cell tumor)

A

perimenopausal, postmenopausal women

anemia, DM, NECROLYTIC MIGRATORY ERYTHEMA

69
Q

somatostatinoma (delta cell tumor)

A

achlorhydria
CHOLELITHIASIS (inhibits CHOLECYSTOKININ release and therefore gallbladder emptying)
DM (inhibits insulin)
STEATORRHEA (inhibits pancreatic secretion and lipid absorption)
most don’t have symptoms

70
Q

insulinoma

A

MOST COMMON functioning pancreatic NET
EPISODIC HYPOGLYCEMIA, confusion, blurred vision, muscle weakness, sweating, palpitations
may have AMYLOID

71
Q

VIPoma

A

vasoactive intestinal peptide
HYPOKALEMIA, acidosis, hypovolemia, ACHLORHYDRIA
SEVERE WATERY DIARRHEA
associations: neural crest tumors: neuroblastomas, ganglioneuroblastoma, ganglioneuromas, pheochromocytomas

72
Q

gastrinoma

A

SECOND most common pancreatic NET

parietal cell hyperplasia (increase acid): PEPTIC ULCERS, DIARRHEA

73
Q

Zollinger-Ellison syndrome

A

gastrinoma

74
Q

islet hyperplasia

A

hyperinsulinism
can happen in adults
most: CONGENITAL with hypoglycemia in neonates/infants

75
Q

scenarios that may result in islet hyperplasia

A
  1. maternal DM
  2. Beckwith-Wiedemann syndrome
  3. rare mutations in the B cell K channel protein or sulfonylurea receptor
76
Q

How can maternal DM effect fetus/neonate?

A

maternal hyperglycemia results in increase in number and size of fetal islets
after birth: hyperactive islets cause serious episodes of hypoglycemia in neonate (transient phenomenon)

77
Q

What pancreatic NET is associated with neural crest tumors?

What are these neural crest tumors?

A

VIPoma

includes: neuroblastoma, ganglioneuroblastoma, ganglioneuromas, pheochromocytomas

78
Q

MEN1

  1. What is the most common manifestation?
  2. What is most likely to kill them?
  3. What is the most frequent pituitary manifestation?
A
  1. manifestation: primary hyperparathyroidism (hyperplasia or adenoma)
  2. kill: pancreatic NET
  3. pituitary: prolactin secreting
79
Q

familial medullary thyroid cancer

A

variant of 2A medullary cancer without clinical manifestations

80
Q

Wermer syndrome

A

MEN1

81
Q

Sipple syndrome

A

MEN2A

82
Q

Features of ACTH independent macro nodular adrenal hyperplasia (primary cortical hyperplasia)

A 
greater than 3mm
sporadic
association: GNAS, McCune-Albright 
prominent nodules of various sizes
mix of lipid poor and lipid rich cells between nodules have microscopic nodularity
83
Q

Features of ACTH independent micro nodular adrenal hyperplasia (primary cortical hyperplasia)

A

1-3 mm
darkly pigemented: LIPOFUSCION
nodules with intervening atrophy

84
Q

lipofusion

A

micronodular primary adrenal hyperplasia

85
Q

primary adrenocortical neoplasia

A

malignant or benign

more likely malignant in children: Li-Fraumeni, BeckwithWiedemann

86
Q

Li-Fraumeni

A

primary adrenocortical neoplasia

87
Q

Beckwith-Wiedemann

A

primary adrenocortical neoplasia

88
Q

Are adrenal cortex carcinomas or adenomas more likely to be functional and virilizing?

A

carcinomas

89
Q

Histo: adrenal cortical adenomas

A

LIPID rich

90
Q

Histo: adrenal carcinoma adenoma

A

anaplastic (can’t tell it’s carcinoma without this until it metastasizes)
poor prognosis
larger than adenoma

91
Q

Causes of hypercortisolism in order from most common to least

A
  1. exogenous
  2. pituitary adenoma
  3. primary adrenal neoplasm
  4. paraneoplastic ACTH tumor
92
Q

Conn’s syndrome

A 
SECOND most common hyperaldosteronism
adrenal adenoma producing aldosterone
Tx: Sx
Sx: HTN, hypokalemia, low renin
SPIRONOLACTONE BODIES after spironolactone Tx
93
Q

bilateral adrenal hyperplasia

A

MOST COMMON primary hyperaldosteronism
idiopathic
Tx: spironolactone (K sparing)
Sx: HTN, hypokalemia, low renin

94
Q

secondary hyper-aldosteronism

A

due to activation of renin-aldosterone system (decreased renal perfusion, arterial hypovolemia, pregnancy)

95
Q

21-hydroxylase deficiency

A

MOST common adrenogenital syndrome
low cortisol: more production of precursors leading to excess androgens
wastes Na

96
Q

11-B-hydroxylase deficiency

A

second most common adrenogenital syndrome
low cortisol: more production of precursors leading to excess androgens
DOC maintains Na levels

97
Q

congenital adrenal hyperplasia

A

suspect in neonate with AMBIGUOUS GENITALS
huge adrenals with cerebriform appearance
BROWN on cut surface rather than yellow (lipid depleted)
may have hyperplasia of corticotrophs in the pituitary
may have tumors in TESTES HILUS (due to increased ACTH)

98
Q

causes of primary adrenocortical insufficiency
acute?
chronic?

A

acute: adrenal crisis, acute hemorrhagic necrosis

chronic/Addison’s: autoimmune, infection (TB, fungal, HIV), amyloid, sarcoid, metastatic carcinoma

99
Q

APS1/APS2

A 
Ab to steroidogenic enzymes
AUTOIMMUNE ADRENALITIS (one form of chronic adrenalitis)
100
Q

Addison’s labs

A

low Na, glucose
high K
all due to lack of cortisol
HYPERPIGENTATION: ACTH increased

101
Q

Tumors that metastasize to adrenal

A 
lung
breast
kidney
suspect if: bilateral and multifocal
metastases: MOST COMMON adrenal malignancy
102
Q

Zellballen

A

cluster of cells

PHEOCHROMOCYTOMA

103
Q

Familial causes of pheochromocytoma

A

MEN2A/B
Sturge-Weber
von Hippel Lindau
von Recklinghausen

104
Q

Sturge-Weber

A

hemangioma of trigeminal nerve

PHEOCHROMOCYTOMA

105
Q

von Recklinghausen

A

aka: neurofibormatosis type 1
neurofibromatosis, schwannoma, meningioma; composite tumors with neuroblastoma, ganglioneuroma, ganglioneuroblastoma
PHEOCHROMOCYTOMA

106
Q

paragangliomas

A

extra-adrenal pheochromocytomas

sites: branchiomeric, intravagal, aortico-sympathetic

107
Q

neuroblastoma

A

neoplasm of POSTGANGLIONIC SYMPATHETIC neurons
ADRENAL MEDULLA (other sites: sympathetic chain, neck, thorax, retroperitoneum, pelvis)
N-MYC, DNA ploidy
metastasize to (lymphatics or blood): SKIN, BONES (SKULL or ORBIT), liver
Sx: PALPABLE ABDOMINAL MASS, diastolic HTN
Dx: increased urine VMA and HVA; bone scan, 131I-MIBG
HOMER-WRIGHT ROSETTES

108
Q

N-MYC amplification

A

poor prognosis in neuroblastoma

109
Q

good prognosis for neuroblastoma

A

metastasize to skin, liver, bone

stage 4S

110
Q

VMA in urine

A

neuroblastoma (very sensitive)

111
Q

HVA

A

neuroblastoma (very sensitive)

112
Q

BRAF point mutations

A

part of MAP kinase signaling
poor prognosis factors: metastasis and invasion
papillary cancer

113
Q

RET/PTC rearrangements

A

part of MAP kinase signaling
papillary carcinoma
medullary carcinoma

114
Q

manifestations of pheochromocytoma

A

palpitations, headache, episodic sweating (PHE)
HTN
cardiac arrhythmias, myocarditis, MI, dilated cardiomyopathy, pulmonary edema
hypertensive crisis: leading to encephalopathy (confusion, neuro probs, seizure, stroke)

115
Q

chromogranin stain

A

pancreatic NET

Neuroblastoma

116
Q

synaptophysin

A

neuroblastoma

117
Q

Hutchinson’s syndrome

A

neuroblastoma metastasis to SKELETAL system (skull and orbit common)

118
Q

Pepper’s syndrome

A

neuroblastoma metastasis to LIVER

Endocrine (7 decks)

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