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FOS > Endocrine > Flashcards

Endocrine Flashcards

1
Q

medullary chromaffin cells are modified ________ sympathetic neurons that release catecholamines into the bloodstream in response to _____ released by ________ sympathetic neurons

A

postganglionic

ACh

preganglionic

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2
Q

__________ refers to a group of _____ disorders that results from defects in the enzymes involved in cortisol biosynthesis. Deficiency of _____ is the most common cause. Patients have salt wasting (low____, high ____), decreased ________ and _______, and ________ overproduction. Females present at birth with _______

A

Congenital adrenal hyperplasia

Autosomal recessive

21-hydroxylase

Na, K

cortisol

aldosterone (also inc ACTH)

androgen (17 hydroxyprogesterone)

ambiguous genitalia

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3
Q

Thiazolidinediones such as _____ bind to _________, an ___________ receptor that acts as a transcriptional regulator of many genes involved in glucose and lipid metabolism.

A

pioglitazone

PPARy

intracellular nuclear

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4
Q

_________ is by far the most effective preventative intervention in almost all patients, especially in those with diabetes

A

smoking cessation

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5
Q

__________ is an autosomal recessive disorder caused by _________ defciency and patients present with HSM, hypotonia, neurodegeneration, and a cherry red macular spot. __________ population is especially at risk. The pathology is due to accumulation of __________.

A

Niemann Pick disease

sphingomyelinase

Ashkenazi Jewish

Lipid laden foam cells

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6
Q

________ enzyme deficiency (Cori disease) leads to accumulation of _______ with abnormally short outer chains due to the inability to degrade a-1,6 glycosidic branch points. Patients present with hypoglycemia, ketoacidosis, hepatomegaly, and muscle weakness/hypotonia

A

debranching

glycogen

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7
Q

an increase in _____ activity as seen in pregnancy or post menopausal estrogen replacement therapy increases levels of __________, which leads to an increase in total thyroid hormone levels, but normal levels of biologically active thyroid hormone

A

estrogen

thyroxine binding globulin

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8
Q

primary mineralcorticoid excess due to a unilateral ____________ (Conn syndrome/hyperaldosteronism) leads to increased ______ reabsorption, HTN, _______, and metabolic ________.

A

adrenal adenoma

sodium

hypokalemia

alkalosis, but normal sodium levels

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9
Q

calcium sensing receptors are ______ that regulate the secretion of parathyroid hormone in response to changes in circulating levels. Hypocalciuric hypercalcemia is a benign ______ disorder caused by defective calcium sensing receptors in the PT gland and kidneys

A

GCPR

AD

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10
Q

patient with severe hypertriglyceridemia, pancreatic lipases can cause toxic levels of FFA to be released within the pancreatic tissue, leading to ________. ________ are the most effect agents to treat this condition

A

acute pancreatitis

fibrates (fenofibrate)

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11
Q

neurophysins are carrier proteins for ____ and _____. deficiency would lead to

A

oxytocin and vasopressin

neurogenic DI

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12
Q

____________ is characteristic pathology feature of type II DM

HLAclass II gene, pancreatic islet infiltratioin with leukocytes, and antibodies against islet antigen are frequently seen in

A

pancreatic islet amyloid deposition

TIDM

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13
Q

parathyroid, pituitary, pacreatic (gastrinomas) =

medullary thyroid, pheo, parathyroid =

medullary thyroid, pheo, mucosal neuromas and mafanoid habitus =

A

MEN1

MEN2A

MEN2B

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14
Q

fatigue weight gain constipation and diffuse goiter in a women most likely =

pathologically shows

A

Hashimoto’s thyroiditis

intense lymphocytic infiltrate w/ germinal centers

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15
Q

early virilization in males with elevated 17hydroxyprogesterone =

due to (with or without salt wasting)

treat by

A

Adrenal cortical hyperplasia

21hydroxylase deficiency

suppressing ACTH w/ low dose corticosteroids

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16
Q

patient presents with dysphagia difficulty breathing and hoarseness at a young age could be a _______ due to failure of proper thyroid _______

A

lingual thyroid

migration

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17
Q

cortisol binds to an ________ receptor

glucagon binds to a _________

both contribute to maintaining blood glucose during periods of fasting

A

intracellular

GPCR

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18
Q

fluid retention, weight gain, and edema are common side effects of _____ therapy and can exacerbate CHF

A

Thiazolidinedione

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19
Q

high blood pressure, muscle weakness, normal heart rate =

overactivity in the

A

hyperaldosteronism

zona glomerulosa of the adrenals (GFR, salt sugar, sex)

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20
Q

anastrozole is an ________ that decrease the synthesis of estrogen from androgens and slows the progression of _________ tumors

A

aromatase inhibitor

ER +

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21
Q

___________ impaires the synthesis of androgens, estrogens, and cortisol but does not inhibit mineralcorticoid production. Boys appear ________ at birth. Patients present with hypogonadism, HTN, and hypokalemia

A

17 alpha hydroxylase deficiency

phenotypically female

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22
Q

gynecomastia is commonly seen in men receiving androgen deprivation therapy for ___________. SERMs such as _______ can prevent this

A

prostate cancer

Tamoxifen

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23
Q

sulfonylureas (______) and meglitinides improve blood glucose in patients with TIIDM by increasing the secretion of insulin and (_______) from the pancreatic B cells.

A

Glyburide

C peptide

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24
Q

sunlight exposure catalyzes conversion of 7 dehydrocholesterol to _________ (vitamin D3) in the skin)

A

cholecalciferol

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25
Q

mild to moderate hyperprolactinemia due to new pituitary tumor often is _________ except for bitemporal visual deficits

A

asymptomatic

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26
Q

ACTH is the major trophic hormone for _________ and _____, whereas the glomerulosa is primarily regulated by _______

A

Fasciculata and reticularis

angiotensin II

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27
Q

Suppression of _____, ______, and cortisol by ________ therapy is the most common cause of adrenal insufficiency

A

CRH, ATCH

glucocorticoid

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28
Q

females born with ambiguous genitalia, hypertension, and hypokalemia =

with hypotension and hyperkalemia =

A

11 Beta hydroxylase

21 hydroxylase

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29
Q

Activating mutations of ______ are strongly associated with medullary thyroid cancer (inc calcitonin). These cancer shows up as a _____ with spindle shaped cells in amorphous background

RAS mutations are common in

mutations of p53 are common in

A

RET

cold

follicular thyroid cancer or adenomas

anaplastic thyroid cancer

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30
Q

Klinefelter syndrome (47___) is characterized by primary ________ (elevated FSH and LH, low _____) long lower extremities, small firm testes, and ________

A

XXY

hypogonadism

testosterone

azoospermia

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31
Q

______ is under negative feedback by T3. Reverse T3 is an inactive form that is generated from peripheral conversion of ______, just like T3. T3 supplementation will result in a _______ in all of these parameters

A

TSH

T4

decrease

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32
Q

the external branch of the __________ is at risk of injury during a thyroidectomy due to its proximity to the _________ artery and vein. This innervates the _____ muscle.

A

superior laryngeal nerve

superior thryroid

cricothyroid muscle

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33
Q

hyperosmotic volume contraction is caused by a loss of free water, which can occur in patients with ______ or as a result of decreased fluid/ excessive sweating

A

Diabetes insipidus

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34
Q

intellectual disability, gait or posture abnormality, eczema, and musty body odor =

inheritance

A

PKU

AR

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35
Q

_________ decreases the effects of radioiodine therapy through competitive inhibition of iodine transportation

A

potassium perchlorate

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36
Q

_____ is responsible for the intracellular effects of the GPCR cAMP second messenger system. hormone receptors that use this system are ____, ____, ______

A

Protein Kinase A

TSH

glucagon

PTH

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37
Q

Damage to the posterior pituitary causes ____ DI, while damage to the ________ causes permanent DI

A

transient

hypothalamic nuclei

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38
Q

_________ is administered to pregnant women at risk of premature delivery to prevent neonatal respiratory distress syndrome

A

dexamethasone

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39
Q

LH stimulates the release of ______ from ____ cells of testis

FSH stimulates the release of ______ from the _____ cells in the seminiferous tubules.

A

testosterone

Leydig

Inhibin B

Sertoli

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40
Q

postoperative hypoparathyroidism is common after _____; results in decreased ____ and ____ resorption from the bone and decreased calcium ______ from the kidneys

A

thyroidectomy

calcium and phosphate

reabsorption

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41
Q

failure of lactation, central hypothyroidism, and adrenal insufficiency in the setting of recent delivery =

due to

A

panhypopituitarism (Sheehan syndrome)

ischemic necrosis

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42
Q

________ measured by waist circumference is an important predictor of insulin resistance

A

Visceral obesity

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43
Q

distorted body image, inadequate diet, dry skin, lanugo hair =

causes low levels of (3)

A

anorexia nervosa

LH, FSH, estrogen

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44
Q

______ reduces intestinal absorption of cholesterol at the brush border of the small intestine

A

Ezetimibe

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45
Q

hypoglycemia with elevated insulin =

with elevated insulin and C peptide =

A

exogenous insulin

insulin secretagogue (sulfonylurea) or insulin secreting tumor

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46
Q

______ from lactotrophs are the most common ______ adenomas and can cause galactorrhea and menstrual irregularities

A

prolactinomas

pituitary

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47
Q

thiazolidinediones exert glucose lowering effect by decreasing

A

insulin resistance

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48
Q

_______ is the most common complication of statin use

A

statin induced myopathy (myalgia and inc CK)

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49
Q

muscle cramps, perioral paresthesias, hypotension, and neuromuscular hyperexcitability due to

injury to

A

hypocalcemia

parathyroid injury

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50
Q

GTP is synthesized by _______ during the conversion of succinyl CoA to cuccinate in the citric acid cycle. GTP is used to synthesize phophoenolpyruvate from ______

A

succinyl-CoA synthetase

oxaloacetate

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51
Q

impaired beta oxidation of fatty acids causes hypoglycemia after prolonged fasting and inappropriately low levels of ketone bodies. _________ catalyzes the first step in Beta oxidation and is the most commonly deficient enzyme

A

Actyl-CoA dehydrogenase

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52
Q

large prolactin secreting pituitary tumors can compress the optic chiasm, causing _______. in addition, elevated prolactin levels suppress ________, leading to decreased LH and Testosterone

A

bitemporal hemianopsia

GnRH

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53
Q

________ adrenergic receptors inhibit insulin secretion, while __________ stimulate insulin secretion.

A

alpha 2

beta 2

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54
Q

_________ is the most common non nuclear DNA found in eukaryotic cells and resembles prokaryotic DNA and is maternally derived

A

mtDNA

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55
Q

___________ is a tumor arising from the chromaffin cells of the adrenal medulla and is characterized by excess catecholamines. Episodic HTN, diaphoresis, palpitations, with elevated plasma metanephrine levels are characteristic

A

pheochromcytoma

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56
Q

medications that alter _______ such as thiazolidoinediones can have a delay of several days to a few weeks for improvements to be seen

A

gene expression

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57
Q

acute adrenal insufficiency due to adrenal hemorrhage or infarction is exhibited by _________, nausea and vomiting, weakness, and fever. It must be treated immediately with __________ or __________

A

hypotension/shock

dexamethasone or hydrocortisone and high IV fluids

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58
Q

the most sensitive screening test for diagnosing primary hypothyroidism is

A

TSH

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59
Q

Grave’s disease, ______________ is a rare but serious complication of antithyroid drugs and is monitored with a white blood cell count

A

agranulocytosis

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60
Q

G6PD is the rate limiting step in the synthesis of NADPH, which is necessary for the biosynthesis of __________ (3)

A

cholesterol, fatty acids, steroids

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61
Q

essential fructosuria is a benign disorder of fructokinase deficiency. Some of the dietary fructose is converted by _______ to fructose 6 phosphate which can enter glycolysis

A

hexokinase

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62
Q

__________ such as repaglinide and nateglinide are short acting ______ lowering medications that act by binding to and closing _______ in the pancreating beta cell membrane, inducing depolarization and L type Ca channel opening, which stimulates insulin release

A

meglitinides

glucose

ATP dependent K+ channel

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63
Q

cleavage of proinsulin in the pancreatic beta cell ______ yields insulin and C peptide, which are __________ until they are secreted

A

secretory granules

stored

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64
Q

mental status change, muscle weakness, constipation, polyuria, polydipsia, excess vitamin D intake =

activated macrophages in _______ express 1 alpha hydroxylase, leading to the production of excess______ and hypercalcemia

A

Vit D intox

sarcoidosis

1,25-dihydroxyvitamin D

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65
Q

both chromaffin cells of the adrenal medulla and ________ of the thyroid originate from embryonic neural crest tissue

A

parafollicular C cells

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66
Q

thyroid peroxidase is responsible for the ___________ and the __________

antibodies to thyroid peroxidase are present in more than 90% of patients with _________

A

oxidation of iodide to iodine

iodination of thyroglobulin

autoimmune (Hashimoto’s) thyroiditis

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67
Q

chronic hyperglycemia causes intracellular sorbitol build up which accelerates ______ development. Sorbitol is normally metabolized into______

A

cataracts

fructose

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68
Q

patient with dyspnea on exertion, large weight gain, darkening of the skin, muscle weakness, lung mass, elevated cortisol and ACTH =

confirmation study

A

Cushings

dexamethasone suppression test

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69
Q

amiodarone can cause ________ and ________ should be checked before adminstration long term

A

hyper/hypothyroidism

serum TSH

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70
Q

__________ for HIV is commonly associated with body fat redistribution (lipoatrophy of face and extremities and central fat accumulation in the trunk and viscera)

A

HAART

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71
Q

painful enlargement of the thyroid with mood swings and hand tremor following a viral illness =

diagnostic testing

pathology

A

subacute granulomatous thyroiditis

inc ESR, CRP, dec radioiodine uptake

mixed cellular infiltrate with multinucleated giant cells

72
Q

poor exercise tolerance, muscle cramps, rhabdomyolysis after intense sessions, no rise in blood lactate levels after exercise =

due to =

normal glucose levels, severe cardiomegaly, glycogen accumulation in lysosomes =

due to =

hepatomegaly, ketotic hypoglycemia, hypotonia, weakness, abnormal glycogen with very short outer chains =

due to =

hepatomegaly and steatosis, fasting hypoglycemia, lactic acidosis, hyperuricemia and hyper lipidemia =

due to =

A

McArdle disease

myophsphorylase deficiency

Pompe disease

acid alpha glucosidase

Cori disease

debranching enzyme deficiency

von Gierke disease

glucose 6 phosphatase deficiency

73
Q

ethanol inhibits ______ and can cause hypoglycemia once hepatic glycogen stores are depleted

A

gluconeogenesis

74
Q

mild hypoglycemia in a conscious patient treat with

severe hypoglycemia with LOC treat with _______ in a nonmedical setting and ________ in a medical setting

A

oral glucose admin

IM glucagon

IV dextrose

75
Q

exercise intolerance, forearm ischemic test and muscle biopsy reveal absent lactate dehydrogenase activity; strenuous exercise in this patient leads to inhibition of _______ in skeletal muscle due to intracellular depletion of _______

A

glycolysis

NAD+

76
Q

An elevated CK is high suggestive of underlying _________ which can be caused by _____________

also caused by Cushings (weakness and atrophy without pain, normal CK), polymyalgia rhematica (pain and stiffness, worse in the morning, normal CK), Inflammatory myopathies, statin induced myopathy

A

myopathy

hypothyroidism

77
Q

insulin ______ glucose uptake, _______ lipolysis and ketoacid formation, and _________ glucagon release

A

increases

inhibits

suppresses

78
Q

patient with recurrent renal colic, PUD , increased 24 hour urinary calcium excretion =

change in bone structure =

also called

A

hyperparathyroidism

sub periosteal resorption with cystic degeneration, salt and pepper skull

osteitis fibrosa cystica

79
Q

increased fatigability, trouble sleeping, heart palpitations, weight loss, heat intolerance, elevated free thyroxine and suppressed TSH, autoimmunity to TSH receptor =

also exhibits

A

Grave’s

pretibial myxedema, exophthalmos, periorbital edema

80
Q

delayed puberty plus anosmia =

failure of ______ secreting neurons to migrate from their origin in the olfactory placode

caused by a mutation in

A

Kallman

GnRH

KAL-1 or FGFR1

81
Q

hirsuitism, acne, androgenic alopecia, menstrual irregularity, =

treated with oral contraceptive pills by suppressing _____ and decreasing ovarian androgen production

A

Polycystic ovary syndrome

LH secretion

82
Q

vasopressin and oxytocin are synthesized within neuronns found in the ________ and ________ nuclei of the the hypothalamus and are released into the circulation from anxon terminals in the __________

A

paraventricular

supraoptic

posterior pituitary

83
Q

_____________ are solid, cystic, calcified, suprasellar, childhood tumors that arise from _________ in the anterior pituitary. They cause mass effect with visual deficits

A

craniopharyngiomas

Rathke’s pouch remnants

84
Q

Postop hypoparathyroidism treated with

secondary hyperparathyroidsim is dialysis patients is treated with

A

oral calcium (calcitriol) and vitamin D

Cinacalcet

85
Q

patients with DKA have an _________ serum potassium despite a total body potassium _______ due to ___________ in intracellular stores

A

increased

deficit

decrease

86
Q

leuprolide is a ________ agonist that causes a transient _______ in pituitary LH secretion, which leads to a ________ in testosterone levels and DHT levels, followed by ________ of LH release and a _________ in T and DHT

A

GnRH hormone

increase

increase

suppression

decrease

87
Q

reduced gallbladder contractility due to decreased _______ secretion is responsible for biliary stones in patients with somatostatinoma

A

cholecystokinin

88
Q

PKU with elevated prolactin and progressive neurologic degeneration due to _____ deficiency

A

dihydrobiopterin reductase

89
Q

_________ cant use ketone bodies for energy because of the lack of mitochondria

A

RBCs

90
Q

_______ decreases hepatic synthesis of TGs and VLDL and reduces HDL clearance. It also decreases renal excretion of uric acid which can precipitate

A

Niacin

gout

91
Q

glucagon has a significant effect on ______, while an insignificant effect on skeletal muscle, adipose tissue, and renal cortex, unlike epinephrine

A

the liver

92
Q

_______ stimulates gluconeogenesis by increasing the activity of pyruvate carboxylase. Pyruvate will be shunted toward ________ production when ______ levels are low, preventing the cell from becoming depleted of energy

A

Acetyl CoA x 3

93
Q

________ competitively inhibits thyroid uptake of radioactive iodine isotopes following nuclear accidents to protect the thyroid

A

potassium iodide

94
Q

___________ deficiency causes hereditary fructose intolerance, which manifests after fruits and fruit juices are introduced into the diet. This presents with failure to thrive, jaundice, and hepatomegaly in an infant recently off of breast milk

A

Aldolase B

95
Q

family history and genetic predisposition to gestational hyperglycemia = decreased activity in __________ which is the glucose sensor in pancreatic beta cells

also seen in maturity onset diabetes of the young

A

glucokinase

96
Q

most common deficiency of the urea cycle characterized by discrete episodes of vomiting, tachypnea, confusion, hyperammonemia and elevated orotic acid in the urine

A

Ornithine transcarbamylase

97
Q

acetyl CoA is converted to ________ by acetyl CoA carboxylase during fatty acid synthesis. This product inhibits mitochondrial carnitine acyltransferase and beta oxidation of newly formed fatty acids

A

Malonyl CoA

98
Q

HSM, neuro regression, cherry red macular spot in infancy =

due to

A

Niemann Pick

sphingomyelinase deficiency

99
Q

Maple Syrup Urine Disease is ________ disorder characterized by the defective breakdown of _______

some patients improve with

A

AR

BCAA - leucine, isoleucine, valine

thiamine supplmentation

100
Q

_________ is found in adipose tissue, where it functions to breakdown TG into free fatty acids for substrates for hepatic gluconeogenesis and ketone body formation

A

Hormone sensitive lipase

101
Q

_______ syndrome results from maldevelopment of the _________, which give rise to the inferior parathyroids/thymus and the superior parathyroids, resulting in thymic and parathyroid hypoplasia.

gene

patients present with hypocalcemia (Chvostek and Trousseau sign), T cell dysfunction (recurrent viral, fungal, protozoan infections)

A

DiGeorge

3rd and 4th pharyngeal/branchial pouches

22q11.2 microdeletion

102
Q

phosphorylation of _____ and ______ residues of insulin receptor and insulin receptor substrate by ______ leads to insulin resistance. This can be induced by TNF-alpha, catecholamines, glucocorticoids, and gluagon

A

serine

threonine

serine kinase

103
Q

_______ found around the kidneys and adrenal galnds of a newborn contributes to temperature regulation by producing heat

A

brown adipose tissue

104
Q

intellectual disability, seizures, light pigmentation, musty odor of a child =

essential amino acid for child =

A

PKU

tyrosine

105
Q

pituitary adenomas are most commonly

A

prolactinomas

106
Q

___________ such as prednisone are used to control severe Grave’s ophthalmopathy by decreasing the severity of _______ and decreasing extraocular volume. Conventional antithyroid drugs do not improve ophthalmopathy

A

High dose corticosteroids

inflammation

107
Q

____________ with progressive beta cell loss is the most common cause of T1DM. Has characteristic ___________

A

autoimmune insulitis

Islet leukocyte infiltration

108
Q

long acting sulfonlureas (glyburide, glimepiride) have a high incidence of _________ in the elderly

A

recurrent hypoglycemia

109
Q

meningitis septicemia can cause _______ commonly called

A

bilateral hemorrhagic infarction of adrenal glands

waterhouse Friderichsen syndrome

110
Q

mealtime insulin analogs (lispro, aspart, glulisine) with amino acid substitution at the C terminal end of the B chain have a ________ onset and offset of action

A

rapid

111
Q

__________ can relieve HTN, tachycardia, fatigue, tremor, heat intolerance, but not exophthalmos in Grave’s

A

Beta blockers

112
Q

non selective B blockers ______ hypoglycemia and mask its adrenergic symptoms mediated by NE and epi. They could be used with caution in patients with ______

A

(Propanolol)

diabetics

113
Q

bile acid binding resins such as ________ increase uptake of cholesterol from the circulation, and reduce LDL levels, however, they increase hepatic production of ________

A

cholestyramine

TGs

114
Q

the enzymes responsible for glycolysis, fatty acid synthesis, and the _______ reside in the ________

beta oxidation of fatty acids, the TCA cycle, and carboxylation of pyruvate all occur in the

A

pentose phosphate pathway

cytosol

mitochondria

115
Q

weight loss and strenuous exercise with abnormal eating habits can lead to suppression of __________ and amenorrhea

A

hypothalamic suppression

116
Q

_________ carcinoma cells are large with overlapping nuclei containing finely dispersed chromatin with a ground glass appearance (orphan annie eye) with numerous intranuclear inclusions and grooves. Psammoma bodies are also seen in this tumor

A

Papillary thyroid

117
Q

Xanthelasmas on the eyelids indicated

A

LDL receptor abnormality

118
Q

primary adrenal insuffiency where __________ administration does not increase serum cortisol

present with _______, ________, _________, and non anion gap metabolic acidosis

A

ACTH

hyponatremia

hyperkalemia

hyperchloremia

119
Q

hyperprolactinemia from pituitary adenoma causes suppression of GnRH, which leads to reduced ______ in women and risk for __________

A

estrogen

accelerated bone loss

120
Q

oxidative metabolism of glucose in pancreatic beta cells generates ________, which induces closure of the ______ sensitive K+ channel leading to membrane depolarization and subsquent insulin release

A

ATP

ATP

121
Q

T1DM typically presents subacutely with polyuria, polydipsia, and polyphagia accompanied by fatigue and weight loss. THe diagnosis can be confirmed with a __________ or HbA1c

A

fasting blood glucose

122
Q

________ is the most common cause of death in patients with DM

A

coronary heart disease (MI)

123
Q

hyperparathyroidism is not a feature of MEN___`

A

2B

124
Q

______ is a well known complication of hyperprolactinemia that is associated with prolactin induce hypogonadism. ________ is a another very common manifestation of estrogen deficiency

A

Low bone density

vaginal dryness

125
Q

in pyruvate dehydrogenase complex deficiency, metabolism of exclusively ketogenic amino acids _________ can provide energy in the form of acetyl CoA without increasing lactate production

A

lysine, leucine

126
Q

________ disease is caused by impaired transport of neutral amino acids in the small intestine and proximal tubule of the kidney. Symptoms include pellagra-like skin eruptions, cerebellar ataxia, which occur as a result of ______ deficiency.

A

Hartnup

niacin

127
Q

_______ accounts for the difference of serum insulin level/time curves seen in IV vs oral glucose

A

Glucagon-like peptide 1

128
Q

Zinc finger motifs are present in receptors for

A

steroids, thyroid hormone, and fat soluble vitamins

129
Q

Fructose 2,6 bisphosphate activates phosphofructokinase-1 and inhibits fructose 1,6 bisphosphatase. Increased levels of F2,6BP inhibit _________ leading to decreased conversion of ________ to glucose

A

gluconeogenesis

alanine

130
Q

orotic aciduria is a rare ______ disorder of de novo pyrimidine synthesis that occurs due to a defect in ______. Children typically present with physical and mental retardation, megaloblastic anemia, and large amounts of urinary orotic acid

treat with

A

UMP-synthase

uridine supplementation

131
Q

thionamides (________) decrease the formation of thyroid hormones via ________ and coupling of iodotyrosines. _______ also decreases the peripheral conversion of T4 to T3

A

methimazole and propylthiouracil

inhibition of thyroid peroxidase

propylthiouracil

132
Q

integral membrane proteins contain transmembrane domains composed of _________ with hydrophobic amino acid residues (alanine, valine, leucine, isoleucine), which help anchor the protein to the phospholipid bilayer

A

alpha helices

133
Q

_______ deficiency impairs fatty acid transport, which also leads to deficient synthesis in

A

Carnitine

Acetoacetate

134
Q

primary (______) polydipsia is a disorder characterized by increased intake of free water leading to hyponatermia and production oa large volume of dilute urine

A

psychogenic

135
Q

________ in septic shock results from tissue hypoxia, which ___________ causing of shunting of pyruvate to lactate following glycolysis

A

lactic acidosis

impairs OxPhos

136
Q

elderly patients with dementia or hemiparesis may have ____ which is a risk factor for aspiration pneumonia

A

dysphagia

137
Q

muscle cells and adipocytes are insulin ________ via ______

brain, intestine, RBCs, kidneys, and liver are insuline ________ via ________

A

dependent GLUT4

Independent GLUT1,2,3,5

138
Q

male neonates with _______ are born with feminized external genitalia that typically masculinize at puberty. A small phallus and hypospadias are common

A

5a reductase deficiency

139
Q

SGLT2 inhibitors such as _______ are oral antidiabetic agents that work by decreased proximal tubular reabsorption of glucose, thereby promoting urinary glucose loss. It is recommended to monitor serum ______ before and after initiating therapy with SGLT2 inhibitors

A

canagliflozin, dapagliflozin

creatinine

140
Q

_________ may lead to erythrocytosis, testicular atrophy, acne, and virilization in women

A

androgenic steroid abuse

141
Q

metyrapone stimulation test will cause a reactive increase in

A

ACTH

142
Q

long term glucocorticoid use due to SLE results in _______(adrenals)

A

bilateral cortical atrophy

143
Q

beta blockers also decrease the rate of

A

T4 to T3 conversion

144
Q

severe headache, ophthalmoplegia, panhypopituitarism, prolactinoma, severely hypotensive then LOC and death =

on autopsy

A

pituitary apoplexy

intrapituitary hemorrhage

145
Q

CKD, coversion of ________ to 1,25dihydroxyvitamin D in the kidneys is impaired

leads to compensatory rise in

A

25hydroxyvitamin D

PTH

146
Q

humoral hypercalcemia of malignancy is caused by secretion of _____

A

parathyroid related protein

147
Q

sex hormones promote growth and epiphyseal plate _____

A

closure

148
Q

transport of glucose into the cells of most tissues occurs by means of _________________ facilitated diffuse

A

carrier mediated

149
Q

______________ contribute to insulin resistance by impairing insulin dependent glucose uptake and increasing hepatic gluconeogenesis

A

chronically elevated free fatty acids

150
Q

tall boy, sweats a lot =

caused by

growth mediated

A

gigantism

hypersecretion of GH

IGF1 release from the liver (JAK/STAT)

151
Q

young boy, routine blood draw shows milky plasma that forms creamy supernatant on standing, liporotein lipase activity measured after IV heparin administration is substantially lower than normal =

most likely risk of

elevated LDL or VDL =

RIsk of ?

A

familial chylomicronemia syndrome (elevated chylomicrons)

acute pancreatitis

family hypercholesterolemia or dysbetalipoporteinemia

premature coronary artery disease

152
Q

primary hypothyroidism is characterized by ______ T4, ___________TSH, and _____________T3 (if early)

A

decreased

increased

normal

153
Q

the insulin receptor is a transmembrane protein with intrinsic _______ activity

activates cell growth and DNA synthesis via

activates glycogen, lipid, and protein synthesis via

A

tyrosine kinase

RAS/MAP pathway

PI3K - protein phosphatase pathway

154
Q

finasteride is a _________ inhibitor that suppresses peripheral conversion of testosterone to dihydrotestosterone. It it used to treat BPH and androgenic alopecia

A

5a reductase inhibitor

155
Q

following pituitary resection, ACTH secretion and cortisol production would be _____. This would result in ______________ activty and reduced conversion of norepinephrine to epinephrine

A

decreased PNMT (phenylethanolamine-N-methyltransferase)

156
Q

lispro, aspart, glulisine are ________ insulins

NPH is ______ insulin used ____ daily

Glargine, detemir are ______ insulins used ________ daily

Regular insulin is used best in _________ for DKA

A

short acting, postprandial

long acting, twice

long acting, once

IV

157
Q

MEN2 consists of pheochomocytoma, ______, and either parathyroid hyper plasia (MEN2__) or marfanoid habitus and mucosal neuromas (MEN2__)

pathology

A

medullary thyroid cancer

A, B

RET; parafollicular calcitonin secreting C cells, nests or sheets of polygonal or spindle shaped, amyloid deposits that stain with Congo red

158
Q

gestational diabetes, baby has macrosomia, HCM, hypoglycemia after delivery

hypoglycemia due to

A

beta cell hyperplasia and hyperinsulinism

159
Q

cushings with low ACTH =

cushings with elevated ACTH suppressed by high dose dexamethasone but not low dose =

cushings with elevated ACTH not suppressed by high dose dexamethasone =

A

adrenal adenoma/carcinoma

pituitary adenoma

ectopic ACTH

160
Q

severe DKA can cause pulmonary edema, respiratory fatigue, decreased mental status, hypoventilation and subsequent hypercarbic ________

A

respiratory failure

161
Q

hyperglycemic developing cataracts due to conversion of glucose to

A

sorbitol

162
Q

after 12-18 hours of fasting, ______ becomes the principal source of blood glucose. The initial steps involve conversion of pyruvate to _______ and then to __________

A

gluconeogenesis

oxaloacetate

phosphoenolpyruvate

163
Q

SIADH presents with euvolemic

A

hyponatremia

164
Q

all steroid producing cells contain a well developed

A

smooth ER

165
Q

the diarrhea caused by celica disease can lead to ______ through malabsorption. patients with this deficiency have ________ serum phosphorus, _________ serum PTH, and ________ serum calcium

A

Vitamin D deficiency

decreased

increased

decreased

166
Q

unlike aldose B deficiency and classic galactosemia, essential furctosuria (_________ deficiency) is a benign diosrder. Patients will have a positive copper reduction test but negative urine dipstick test

A

fructokinase

167
Q

the acute effects of corticosteroids on the WBC include an ________ neutrophil count and a ______ lymphocyte, monocyte, basophil, and eosinophil count

A

increased

decreased

168
Q

eruptive palmar xanthomas, premature atherosclerosis, defective ApoE3 and 4 =

decreased clearance of

A

familial dysbetalipoproteinemia: AR

chylomicrons and VLDL remnants

169
Q

pyruvate dehydrogenase and alpha keto glutarate require ______ as a cofactor. Adminisstration of glucose to deficient patients (alcoholics) can result in Wernicke encephalopathy

A

thiamine

170
Q

______ is essential in the conversion of pyruvate to oxaloacetate and fatty acid metabolism. Ingestion of avidin found in ________ has been associated with a deficiency in this. This condition presents with mental status changes, myalgias, anorexia, macular dermatitis, and lactic acidosis

A

biotin

egg whites

171
Q

long term _________ use is associated primarily with catabolic effects (muscle weakness, skin thinning, impaired wound healing) except for in the ______

A

glucocorticoid

liver

172
Q

_______ produced by the degradation of TGs in adipose tissue can be used by _________ in the liver and kidney to synthesize glucose during gluconeogenesis (DKA)

A

glycerol

glycerol kinase

173
Q

_________ inhibits hepatic gluconeogenesis and increases peripheral glucose utilization. Lactic acidosis is a rare complication, but its risk is increased in patients with underlying renal insufficiency, which should assessed by serum ________

A

metformin

creatinine measurement

174
Q

GH works through the ______ intracellular pathway

A

JAK-STAT

175
Q

diabetes mellitus/hyperglycemia, diarrhea, necrolytic migratory erythema =

diagnosis

A

glucagonoma

elevated glucagon levels

FOS (20 decks)

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