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Endo > Exam review > Flashcards

Exam review Flashcards

1
Q

Prop1 mutations would cause deficiencies in which hormones?

A

Prolactin, GH, TSH

LH, FSH

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2
Q

Pit1 mutations would cause deficiencies in which hormones?

A

Prolactin, GH, TSH

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3
Q

Which hormones are acidophils (eosinophilic staining)?

A

GH, Prl

remember G-rl

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4
Q

ADH is made in the ______ nuclei

A

supraoptic nuclei

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5
Q

oxytocin is made in the _____ nuclei

A

paraventricular nuclei

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6
Q

What is embryologic derivative of anterior pituitary?

A

oral ectoderm (Rathke pouch)

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7
Q

What is embryologic derivative of posterior pituitary?

A

neuroectoderm

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8
Q

how does prolactin inhibit ovulation and spermatogenesis?

A

via inhibiting GnRH

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9
Q

What is role of GH on bones?

A
  • linear growth at epiphyseal growth plates
  • increase osteoclast differentiation/activity
  • increase osteoblast activity
  • increase bone mass by endochondral ossification
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10
Q

what are the anabolic effects of GH?

A
  • stimulates amino acid uptake into tissues and increases muscle
  • promotes lipolysis with fat breakdown
  • causes insulin resistance
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11
Q

what is the hypothalamic control of GH?

A

GHRH (+)
somatostatin (-)

release of GH in sleep, exercise, stress, hypoglycemia

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12
Q

what is the hypothalamic control of TSH?

A

TRH (+) and somatostatin (-)

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13
Q

how is FSH secretion regulated?

A

stimulated by GnRH

inhibited via negative feeedback from Inhibin from sertoli cells and ovarian granulosa cells

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14
Q

what does ADH do?

A

binds to V2 receptors in renal collecting ducts which stimulates aquaporin 2 water channels to luminal membrane to allow water reabsorption back into collecting duct cells

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15
Q

what is normal histological appearance of anterior pituitary? posterior pituitary?

A

ant: reticulin network
post: Herring bodies (axonal expansions) and pituicytes (supportive glial cells)

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16
Q

how do you distinguish PRL producing adenoma from stalk effect?

A

if PRL elevated but < 150 ng –> stalk effect

If PRL elevated and > 150 ng –> PRL adenoma

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17
Q

histologic findings of GH adenoma?

A

fibrous bodies

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18
Q

what is Nelson syndrome?

A

removal of adrenal glands –> enlargement of ACTH adenoma

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19
Q

what markers can you use for nonfunctioning pituitary adenoma?

A

synaptophysin and chromogranin reactive

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20
Q

what is lymphocytic hypophysitis?

A

autoimmune disorder, symmetrical pituitary enlargement and ant pituitary destruction and insufficiency. most common in pregnancy/postpartum

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21
Q

what is appearance of craniopharyngiomas on imaging?

A

calcified mass. derived from rathke’s pouch

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22
Q

histology findings for adamantinomatous craniopharyngioma?

A

squamous cells, peripheral palisading of nuclei, “wet keratin” –> tx with resection

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23
Q

histology findings for papillarycraniopharyngioma?

A

well differentiated squamous epithelium, no keratin, less palisading, no calcifications

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24
Q

what do germinomas look like on histology?

A

tumor cells with clear cytoplasm

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25
Q

which hormones are nuclear receptors?

A

thyroid hormone, estrogen/testosterone/progesterone, aldosterone, cortisol, calcitriol (active vitD)

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26
Q

insulin uses which type of signaling?

A

receptor tyrosine kinase

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27
Q

what hormones use cytokine activated receptors?

A

GH, PRL, leptin

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28
Q

epinephrine binds to what type of receptor?

A

GPCR for beta adrenergic signaling. Gs signaling. autophosphorylation to shut it down

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29
Q

septo-optic dysplasia involves which mutation most commonly?

A

HESX1

optic nerve dysplasia, hypopituitarism

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30
Q

what are findings of langerhan’s cell histiocytosis?

A

infiltrative hypothalamic disease, osteolytic lesions (esp jaw), check diffusion capacity

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31
Q

what is Kallmann’s syndrome?

A

cause of hypogonadotrophic hypogonadism

forebrain defect, anosmia and absent GnRH with hypogonadism

mutations in anosmin

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32
Q

what is the role of the hypothalamus in energy balance?

A
  • lateral hypothalamus: increases food intake. damage –> decreased appetite and decreased weight
  • ventrolateral hypothalamus: decreases food intake. damage –> obesity

Remember lateral LOVES food and ventrolateral is VERY FULL

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33
Q

what is the order of hormone loss?

A

1) GH
2) LH/FSH
3) ACTH/TSH

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34
Q

what is Laron dwarfism?

A

GH insensitivity syndrome. autosomal recessive GH receptor mutation

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35
Q

most common cause of adrenal insufficiency?

A

exogenous steroid d/c

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36
Q

what is the cause of familial isolated pituitary adenoma (FIPA)?

A

mutation in aryl hydrocarbon receptor interacting gene (AIP) (a tumor suppressor)

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37
Q

what is Carney syndrome?

A

mutation in type 1a subunit of PKA (PRKAR1A). pituitary adenoma, spotty skin pigmentation, myxomas, schwannomas, Cushing’s syndrome

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38
Q

what are results of dehydration test in pt with diabetes insipidus?

A

can’t concentrate urine, even though serum osmolality goes up

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39
Q

what antibody is found in hashimoto’s?

A

anti-thyroperoxidase antibodies

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40
Q

what is used as tumor marker for papillary and follicular thyroid cancer?

A

thyroglobulin

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41
Q

what is embryologic derivative of thyroid?

A

endoderm. 1st pharyngeal arch

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42
Q

histo for grave’s disease?

A

scalloped colloid

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43
Q

what is a common mutation for follicular cell carcinoma of thyroid?

A

Ras mutations

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44
Q

papillary carcinoma is associated with which mutations?

A

RET rearrangements, RET-PTC fusion proteins, activating point mutations in BRAF

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45
Q

histo findings for papillary carcinoma?

A

atypical nuclear morphology, nuclear grooves, psammoma bodies, orphan annie eye nuclei (cells with clear nuclei), inclusion bodies

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46
Q

what is most common mutation for medullary thyroid carcinoma?

A

RET protooncogene

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47
Q

histo findings for medullary thyroid carcinoma?

A

stain positive for calcitonin, malignant cells in amyloid stroma

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48
Q

what is major potential complication/side effect of methimazole?

A

agranulocytosis –> watch for fever, sore throat

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49
Q

what is major potential complication/side effect of PTU/

A

risk of fulminant liver necrosis

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50
Q

what cardiac risk increases as target lower TSH level?

A

a fib. also postmenopausal osteoporosis, thyrotoxicosis

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51
Q

embryologic derivative of adrenal cortex and medulla?

A

cortex –> mesoderm

medulla –> neural crest (ectodermal chromaffin tissue)

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52
Q

what is Conn syndrome?

A

aldosterone producing adenoma

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53
Q

how can you tell adrenal cortex adenoma from carcinoma on gross path and histo?

A

gross path: adenoma is yello, carcinoma is hemorrhagic or tan/brown

histo: periadrenal fat cell invasion or other invasion/necrosis in carcinoma

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54
Q

what does pheo look like on gross path and histo?

A

gross path: areas of hemorrhage or brown in medulla. can see yellow cortex outside.

histo: stain pos for sustentacular cells, zellballen

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55
Q

what is the origin of ganglioneuroma?

A

neural crest (ganglion cells and schwannian stroma)

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56
Q

what is the origin of neuroblastoma?

A

neural crest (neuroblastic) origin

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57
Q

what are markers of metastatic renal cell carcinoma?

A

CA9 stain, clear cytoplasm

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58
Q

What receptor does ACTH bind to?

A

MRC-2 receptor (a GPCR)

59
Q

how can you assess the CRH-ACTH-adrenal axis?

A

stimulate: insulin tolerance, ACTH stimulation, CRH test
inhibit: dexamethasone suppression test

60
Q

testosterone is highly protein bound to which proteins

A

albumin and sex hormone binding protein (SHBG)

61
Q

what is a normal morning cortisol level?

A

> 10 ug/dL. <4 indicates adrenal insufficiency

62
Q

what are the different lab findings for primary and secondary hyperaldosteronism

A

primary: renin suppressed, increased aldosterone. renin can’t be stimulated and aldosterone not suppressible
secondary: increased renin and increased aldosterone. both are suppressible

63
Q

what are chromogranins?

A

clinical marker of pheos and paragangliomas

64
Q

what can you measure to assess for pheo and paraganglioma?

A

normetanephrine and metanephrine or VMA (circulating catecholamine metabolites)

65
Q

where are sympathetic paragangliomas found?

A

chest, abdomen, pelvis

worse prognosis

66
Q

where are parasympathetic paragangliomas found?

A

head and neck, upper mediastinum

better prognosis

67
Q

what mutations are common in familial paragangliomas?

A

succinate dehydrogenase subunit genes (SDHB, SDHC, SDHD)

SDHB = develop disease earlier (~age 34, increased risk malignancy)

68
Q

what is tx for pheochromocytoma and paraganglioma?

A

surgical resection with alpha and beta blockade and high Na diet prior (expand volume, control BP)

alpha FIRST before beta

69
Q

What glucose transporter is insulin dependent? where is it found?

A

GLUT-4/ gets recruited to plasma membrane in response to insulin signaling

adipose, muscle

70
Q

what effect does insulin have on K+?

A

promotes K+ uptake into cells

ie shift extra –> intracellular

71
Q

is insulin anabolic or catabolic?

A

ANABOLIC

increase glucose uptake
increase glycogenolysis
lipid and protein synthesis
decreased glucagon secretion

72
Q

What glucose transporter is insulin INdependent? where is it found?

A

GLUT-2

liver, pancreas

73
Q

What happens when GLUT-2 takes up glucose? what is the signalling pathway?

A
  • glucose is used to make ATP
  • increase in ATP blocks ATP sensitive K+ channel
  • cell membrane depolarizes
  • voltage dependent Ca channel is activated
  • Ca enters cell and stimulates insulin exocytosis
  • insulin is released into bloodstream
74
Q

what are GLP-1 and GIP?

A

peptide hormones secreted in L cells of jejunum in response to feeding. cause glucose stimulated insulin secretion, inhibit glucagon, delay gastric emptying, induce satiety

degraded by DPP4

75
Q

leptin is the ____ signal

A

satiety (ie I’m full!!)

secreted by adipocytes

76
Q

grehlin is the ____ signal

A

hunger

secreted by epsilon cells and gastric cells

remember: grehlin if your stomach is ~growlin~

77
Q

what happens in insulin resistance in T2DM?

A

decreased ability of insulin to decrease circulating glucose concentration, can’t stimulate periphery to utilize glucose, impaired suppression of glucose production by liver

leads to hyperglycemia.

78
Q

how does beta cell dysfunction happen in T2DM?

A

pro-amylin accumulates, causing decreased endogenous insulin production

79
Q

what is the mechanism of hyperglycemia related microvascular complications in T2DM?

A
  • endothelial cells uptake glucose via GLUT-1
  • intracellular hyperglycemia leads to oxidative stress and DNA strand breaks
  • activation of PARP which then inhibits GAPDH
  • this causes increased flux through polyol pathway, increased AGEs, increased flux through hexosamine pathway
80
Q

hereditary vit D resistant rickets (type 2) is caused by what?

A

mutation in vit D receptor gene (nuclear receptor)

81
Q

hereditary vit D resistant rickets (type 1) is caused by what?

A

mutation in 25 OHvitD 1alpha hydroxylase gene so can’t convert inactive vit D to active vit D

82
Q

what are two non PTH dependent causes of hypercalcemia?

A

hypercalcemia of malignancy and granulomatous disorders (ex. sarcoidosis)

83
Q

what electrolyte abnormality is expected in a pt with primary adrenal insufficiency?

A

hyperkalemia due to decreased mineralocorticoid secretion

84
Q

what are the two main features of Kallmann syndrome?

A

anosmia and hypogonadotrophic hypogonadism (decreased LH/FSH)

85
Q

what is “thrifty phenotype”

A

poor fetal growth

risk of developing impaired glucose tolerance and metabolic syndrome

86
Q

what are risk factors for gestational maternal diabetes

A
  • maternal age > 35
  • overweight/obese maternal BMI
  • fam hx DM
  • parity 2 or more
87
Q

what is the role of PTH?

A

regulates calcium levels by increasing Ca2+ in response to low serum Ca2+

88
Q

in the intestine, what is the role of vit D for calcium?

A

vit D is NEEDED for Ca2+ absorption in the gut

89
Q

how do glucocorticoids impact Ca2+ in the gut? in the kidney?

A

decreased Ca2+ absorption in the gut

increased excretion in kidney

90
Q

what are the effects of loop diuretics and thiazide diuretics on Ca2+ excretion in the kidney?

A

loop diuretics increase Ca excretion

thiazides decrease Ca excretion

91
Q

what does RANK-L do?

A

made by osteoblasts, binds receptor on osteoclasts to promote fusion, differentiation, activity, survival of osteoclasts

92
Q

what are markers of osteoblast activity?

A

alk phos, osteocalcin, collagen peptides

93
Q

what does sclerostin do?

A

released from osteocytes to inhibit wnt signaling

this inhibits osteoblast differentiation and activity

94
Q

what do sclerostin antagonists do?

A

increase bone formation

because inhibit the inhibitor of osteoblast differentiation and activity

95
Q

how does PTH regulate Vit D production?

A

PTH stimulates alpha hydroxylase in the kidney which converts 25OHD (storage) –> 1,25(OH)2D3 (active, calcitriol)

can think of it because PTH responds to low Ca and we need vit D to absorb Ca in the gut.

both Ca and Phosphate are absorbed in vit D dependent manner in gut –> low serum phos also stimulates production of active vitD

96
Q

what are the effects of active vitamin D?

A

stimulates intestinal Ca/phos absorption (–> bone mineralization)
inhibits PTH secretion

97
Q

what are some vit D analogs?

A

alphacalcidol: doesn’t require 1 hydroxylation so use if 1 hydroxylase is deficient
paracalcitol: use in ESRD, suppresses PTH, minimal effect on gut, good for secondary hyperPTH

98
Q

what is teriparatide and what is it used for?

A

PTH analog

anabolic agent for osteoporosis (pulsatile)

risks: hyperCa, risk osteosarcoma

short term use only

99
Q

what is cinacalcet and what is it used for?

A

allosteric activator of CaSR. increases sensitivity of CaSR to increased Ca which suppresses PTH.

indications: hyperPTH, parathyroid carcinoma

side fx: hypoCa, adynamic bone disease

100
Q

what type of signaling is PTH?

A

acts via GPCR via PKA/PKC pathways

101
Q

what is the difference between intermittent PTH and constant PTH administration?

A

intermittent/pulsatile –> anabolic for bone

constant –> catabolic for bone (ie bone resporption)

102
Q

what does calcitonin do?

A

acts on mature osteoclasts via GPCRs to inhibit bone resorption

secretion stimulated by Ca2+

can think of when have high Ca, calcitonin stops further Ca release from bone

103
Q

what does FGF-23 do?

A

produced by OBs and osteocytes

increased in response to calcitriol and phos

inhibits activation of vit D (renal calcitriol synth) and phos reabsorption

104
Q

what role does estrogen play in bone health?

A

antiresorptive and anabolic

inhibits production of RANK-L and IL6, increased osteoprotegerin, induces apoptosis of osteoclasts, decreases sclerostin

105
Q

how are SERMS used for bone health?

A

selective estrogen response modulators

raloxifene: prevent/tx postmenopausal osteoporosis, decreased risk breast cancer

side fx: thrombosis, hot flash, contraindicated if may become pregnant

106
Q

what do bisphosphonates do?

A

…dronates

accumulate at sites of active resorption, taken up by osteoclasts and then inhibit them –> antiresorptive

tx/prevent osteoporosis, tx bone metastases

side fx: upper GI (esophageal irritation, esophagitis, heartburn), lower GI (abd pain, diarrhea), osteonecrosis of jaw and atypical femoral fractures

107
Q

what is denosumab?

A

ab against RANKL

inhibits osteoclast fusion, function, survival = antiresorptive

indications: osteoporosis, bone mets

side fx: hypoCa, rash, osteonecrosis of jaw, infections if weak immune system

108
Q

what do glucocorticoids do to bone in short term?

A

can tx hyperCa by decreasing intestinal Ca abs, increase renal Ca excretion

109
Q

list drugs indicated for hypoCa

A

vit D, calcitriol, alphacalcidol, thiazide diuretics

all with calcium supplement

110
Q

list drugs indicated for hyperCa

A

loop diuretic, bisphosphonates, calcitonin, glucocorticoids

111
Q

list antiresorptive drugs for osteoporosis

A

bisphosphonates, denosumab, SERMs, estrogen, calcitonin

all with calcium, vit D, exercise

112
Q

list anabolic drugs for osteoporosis

A

teriparatide (PTH analog), abaloparatide (PTHrP analog)

all with calcium, vit D, exercise

113
Q

which are first line tx for osteoporosis: antiresorptive or anabolic

A

antiresorptive. prevent bone breakdown, cheaper, less potent

114
Q

what are lab findings and causes of primary hyperPTH

A

hyperCa results from abnormally active parathyroid glands

high Ca and normal-high PTH

adenoma

give cinacalcet

115
Q

what are lab findings and causes of secondary hyperPTH

A

hypoCa results in reactive overproduction of PTH

low Ca, high PTH

CKD, malnutrition, vit D deficiency

116
Q

other than primary hyperPTH, what are two other PTH dependent causes of hyperCa?

A
  • familial hypocalciuric hypercalcemia (FHH): aut dom mutation of CaSR so have resistance to Ca and slightly elevated PTH. look for FeCa <1%. neonatal can be more severe (aut rec)
  • drug induced (ex. Lithium)
117
Q

what is a PTH independent cause of hyperCa?

A

malignancy (will have PTH < 20 pg/mg) (high Ca, low PTH)

paraneoplastic PTHrP, osteolytic metastases, paraneoplastic calcitriol (bc ectopic 1 alpha hydroxylase)

118
Q

what are sxs of hyperCa?

A

stones, bones, groans, psychogenic overtones

shortened QT interval

119
Q

what does hypoCa do to QT interval?

A

prolongs QT interval

120
Q

what are common etiologies of hypoparathyroidism?

A

(low Ca, low PTH)

destruction (surgical, autoimmune, radiation, infiltration)

congenital (DiGeorge, velo-cardio-fascial syndrome)

functional: hypoMg (bc PTH secretion dependent on Mg) (if Mg < 1)

121
Q

how to dx vit D deficiency?

A

measure storage form vitD (vitD25 hydroxy)

122
Q

what virus associated with Paget’s?

A

paramyxovirus

123
Q

what is the difference between vit D dependent rickets type 1 or type 2?

A

type 1: mutation in 25 hydroxyvitD 1alpha hydroxylase gene so can’t convert inactive vitD to active calcitriol

type 2: mutation in vit D receptor gene

124
Q

what is normal timing of puberty?

A

girls: 7/8-13
boys: 9-15

125
Q

when is peak growth rate during puberty?

A

girls: tanner 2-3
boys: tanner 4

126
Q

what do you see in central precocious puberty

A

high LH/FSH, high testosterone or estrogen

127
Q

what do you see in peripheral precocious puberty

A

low LH/FSH, high testosterone or estrogen

ex. McCune Albright

128
Q

what do you see in hypogonadotrophic hypogonadism?

A

low LH/FSH, low testosterone or esrogen

129
Q

what do you see in delayed puberty (hypergonadotrophic hypogonadism)

A

high LH/FSH, low testosterone or estrogen

ex. Klinefelter, Turner

130
Q

what is Klinefelter’s syndrome?

A

47XXY

long arms/legs, gynecomastia, psychosocial abnl, inattention, impaired linguistic function, small firm testes with low sperm count/infertility

131
Q

what is Turner syndrome?

A

45XO

small ovaries with few follicles, streak gonads –> infertility

short stature, hand/feet swelling, shield chest, low hairline, heart disease, horseshoe kidney, ear infections and hearing lsos, ADHD, non verbal learning disability

132
Q

what are findings in MEN1

A

parathyroid (primary hyperPTH), pancreas (gastrinoma, insulinoma), pituitary (prolactinoma)

133
Q

what are findings in MEN2a

A

MTC
pheo
primary hyperPTH

extraendo: hirschprung’s disease, cutaneous lichen amyloidosis, familial MTC

134
Q

what are findings in MEN2b

A

MTC
pheo

intestinal ganglioneuromatosis
Marfanoid habitus

135
Q

what are findings in von Hippel Lindau

A

aut dom

hemangioblastomas, retinal capillary hemangioblastomas, clear cell renal cell carcinomas, pheo, tumors of middle ear, pancreatic tumors, papillary cystadenomas of epididymis and broad ligament

136
Q

what are findings in NF1

A

aut dom mutation in tumor suppressor NF1

cafe au lait, neurofibromas, axillary and inguinal freckling, optic pathway gliomas, lisch nodules, endocrine tumors (pheo, paragangliomas, GI tract/pancreatic)

137
Q

what are findings in Li Fraumeni

A

aut dom mutation in tumor suppressor p53

sarcomas, premenopausal breast cancer, brain tumors, adrenocortical tumors

138
Q

what are findings in carney complex?

A

aut dom mutation of PRKAR1A

myxomas, adrenocortical tumors, thyroid nodules, pituitary adenoma, ovarian cysts, cafe au lait, pigmented lesions of eye

139
Q

what are findings in mccune albright syndrome

A

postzygotic activating mutation of alpha subunit of Gs (constitutively active)

triad of fibrous dysplasia of bone, cafe au lait hyperpigmentation, precocious puberty

140
Q

what gene is mutated in autoimmune polyglandular syndromes?

A

AIRE gene

141
Q

what is the difference between allelic heterogeneity and locus heterogeneity?

A

allelic: multiple diff mutations can occur on same gene (ie diff mutations in androgen receptor gene can cause androgen insensitivity)
locus: similar disease phenotype occurs from mutations in diff genes (ex. nephrogenic DI can come from mutations on diff chromosomes)

142
Q

what are findings of primary short stature?

A

linear growth normal but below typical or normal then slows

bone age > chronological

ex. Down’s, Turner, achondroplasia

143
Q

what are findings of secondary short stature

A

linear growth is slow (bone age < chronologic age)

ex. GH-IGF axis, endocrine, malnutrition, IGF deficiency (ex. GH resistance in Laron syndrome), IUGR, chronic dz, psychosocial

Endo (2 decks)

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