Repro and Endocrine

Question 1

woman with loss of distal eyebrow hair, weight gain, presents with galactorrhea, dx?

Answer 1

hashimoto’s causing primary hypothyroidism. this ramps up TRH which also activates prolactin to be released. prolactin inhibits GnRH release from hypothalamus which decreases FSH, LH

Question 2

floppy baby with cardiomegaly and gallop rhythm, muscle biopsy shocryws enlarged lysosomes with PAS positive material, what is dx?

Answer 2

Pompe disease (glycogen storage disease type 2) lacks Acid-a-glucosidase. hallmark is muscle biopsy and glycogen in lysosomes

Question 3

guy with klinefelters, what hormone is elevated in this patient?

Answer 3

Estrogen and LH and FSH because of lack of testosterone production and lack of feedback inhibition

Question 4

orotic acid crystals in urine in 14 month old baby and FTT, and megaloblastic anemia. what is 2 ddx? and what helps in this case?

Answer 4

Orotic aciduria and ornithine transcarbamylase deficiency, but the latter does not have megaloblastic anemia and usually causes fatal encephalopathy due to urea cycle abnormality. for first give uridine

Question 5

two arrests in oogenesis when and at what stage?

Answer 5

prophase of meiosis 1 until ovulation and metaphase of meiosis 2 until fertilization

Question 6

thick white vaginal discharge with budding cells, what are risk factors of this condition?

Answer 6

antibiotics or immunosuppression

Question 7

cryptorchidism, testis is medial to the mid inguinal point, where does it need to be brought through?

Answer 7

superficial inguinal ring which is external oblique aponeurosis. transversalis fascia is the deep inguinal ring

Question 8

7 year old with growth retardation, MRI shows suprasellar lesion mass with cystic spaces and calcifications compressing 3rd ventricle and base of brain. dx and embryological origin?

Answer 8

craniopharyngioma- rathke’s pouch

Question 9

what is the function of human placental lactogen

Answer 9

increases insulin resistance in blood, so increases glucose concentration in blood which can be used by baby. also increases lipolysis so fatty acids can be used by mom instead of glucose

Question 10

patient with T2DM, fasting glucose normal but postprandial glucose in uncontrolled, what insulin regime to start on?

Answer 10

postprandial should be the short acting insulins, which is aspart, lispro, glulisine. the long acting is demetir, glargine, degludec (they sound slow)

Question 11

glucagon uses what signaling pathway?

Answer 11

cAMP and protein kinase A (flat chAMP gg)

Question 12

guy with zollinger elison (gastrinoma) what other family history?

Answer 12

recurrent nephrolithiasis due to hypercalcemia in primary hyperparathyroidism in MEN1. 3Ps of MEN1: pituitary, pancreas, parathyroid

Question 13

fat redistribution, like cushings, dx?

Answer 13

HIV drug- antiretroviral side effect

Question 14

person with mosaic turners syndrome what kind of mosaicism is it? germline or somatic

Answer 14

somatic because phenotypically evident. if germline that only the genes passed to the offspiring

Question 15

baby with seizures, blue eyes and musty body odor, what is an essential amino acid for this patient?

Answer 15

tyrosine! essential means the downstream after the enzyme, so in this case phenylalanine hydroxylase is missing in PKU, so tyrosine is essential

Question 16

woman taking antiepileptics with polyhydramnios, cause? broad causes then specifics

Answer 16

anencephaly. broad causes are increased production and decreased consumption. production problem is maternal diabetes, multiple gestation, and consumption problem is intestinal atresia or anencephaly (cannot swallow)

Question 17

ER positive breast cancer, what does anastrozole do?

Answer 17

aromatase inhibitor

Question 18

anosmia dx? and mechanism

Answer 18

kallman’s in hypothalamus because GnRH secreting neurons do not migrate properly to hypothalamus

Question 19

bitemporal hemianopsia with headaches, what question do you as k next to a man?

Answer 19

decreased libido. prolactinoma is the most common functional pituitary adenoma

Question 20

what does FSH do in guys

Answer 20

stimulate sertoli cells in the seminferous tubules to make inhibin B (which is negative feedback on FSH) and androgen binding protein which increases local testosterone concenration and is essential to spermatogensis

Question 21

drug A given before epinephrine paradoxically increases insulin. what is drug A’s action?

Answer 21

block A2 adrenergic receptors, pancreatic beta cells have both alpha 2 and beta 2 receptors, and alpha inhibits while beta stimulates release, but alpha effects predominate. epinephrine activates both. but by blocking alpha 2, beta 2 predominates

Question 22

fever, uterine tenderness, foul smelling tissue after abortion. what is the organism?

Answer 22

staph aureus (or can be e coli or GBS). gardnerella does not cause this septic abortion picture

Question 23

past history of prostate CA on leuprolide, incidental finding of bone osteopenia. what is mechanism

Answer 23

leuprolide is GnRH agonist that initially causes spike but then continuous release leads to downregulation of receptors so FSH and LH are not released, leading to decreased testosterone production which cannot be aromatized into estrogen which inhibits osteoclasts. testosterone also maintains bone density

Question 24

man on drugs for hypertension, what is cause of hypercalcemia and low PTH hormone?

Answer 24

thiazide blocks NaCl- symporter, which activates basolateral sodium calcium antiporter. this decreases Ca concentration in cell leading to increased absorption from lumen. familial hypercalcemia is when PTH needs higher level of Ca to increase PTH

Question 25

where is 21 hydroxylase found in cell?

Answer 25

smooth Er

Question 26

what is epi and hypospadia due to?

Answer 26

genital tubercle misplacement; urethral fold incomplete

Question 27

which arteries supply the testes in testicular torsion?

Answer 27

gonadal artery from the abdominal aorta. pampiniform plexus in testes is engorged during torsion

Question 28

Vit D deficient patient, advised to spend more time in the sun, which process in the Vit D pathway does this affect? what is the pathway?

Answer 28

7 cholecalciferol (provitamin D) to cholecalciferol (Vit D3), by sunlight. then becomes 25-hydroxyvit D3 in the liver, then 1,25 hydroxyvit D3 in the kidneys through (1-alpha-hydroxylase, upregulated by PTH)

Question 29

tamoxifen side effects?

Answer 29

hot flashes and endometrial hyperplasia. it is a selective estrogen receptor modulator, a competitive inhibitor, but has stimulatory effect on bone and uterus

Question 30

cystic hygroma, lymphedema and diminished femoral pulses, dx?

Answer 30

Turners

Question 31

hsg shows bicornuate uterus, what process was defective?

Answer 31

lateral fusion of the paramesonephric ducts

Question 32

pregnant mom with rash from head downwards, postauricular LAD. dx and what will baby have?

Answer 32

rubella, (measles is 3c’s) mom will likely have polyarthralgia, and baby will have deafness, cataracts, PDA

Question 33

PCB, yellow vaginal discharge, purulent discharge from cervical os, friable cervix, NAAT positive, what is dx and complication?

Answer 33

cervicitis (gonorrhea and chlamydia) infertility due to PID

Question 34

big adnexal mass in the right with no blood flow to ovary, patient with pain, dx and what ligament is involved?

Answer 34

ovarian torsion around the IP ligament (carries the ovarian vessels)

Question 35

patient who had irregular menses is pregnant now, AFP is low, what could it be?

Answer 35

incorrect dating because of irregular menses, but ddx is trisomy 18, 21 for true low AFP. high AFP- neural tube defects

Question 36

how to regain fertility in PCOS?

Answer 36

lose weight and clomiphene (SERM) that reverses negative feedback in hypothalamus so it produces GnRH

Question 37

bleeding from right nipple, in 34 yo, no other masses or skin changes or pain. dx?

Answer 37

intraductal papilloma- most common cause- papillary projections with fibrovascular core

Question 38

HSIL patient what is histology?

Answer 38

expansion of basal cells to the epithelial surface

Question 39

pyruvate dehydrogenase deficiency, what is essential for this person?

Answer 39

leucine and lysine- the only purely ketogenic amino acids

Question 40

Vitamin D toxicity, what disease process is similiar to this?

Answer 40

sarcoidosis, TB (granulomatous dz)

Question 41

insulin lifecycle:

Answer 41

translated in RER, pre- part of preproinsulin taken off, then sent to golgi where pro- part is taken off and remains as C peptide and insulin, stored in vesicles until exocytosis when K channels are shut

Question 42

5month old that has cardiomyopathy,muscle weakness, no ketones in urine, hypoketotic hypoglycemia, etc. muscle biopsy shows carnitine deficiency, what is deficient?

Answer 42

ketone bodies (acetoacetate). Carnitine transports fatty acids into the mitochondria for beta oxidation. if cannot do this then cannot make acetyl coA and ketones

Question 43

painful goiter, diffuse decreased iodine uptake, high ESR. what is dx and biopsy results?

Answer 43

de quervain thyroiditis (subacute granulomatous) multinucleated giant cells with mixed inflamm infiltrate. hashimotos is painless, has germinal centers. Riedel’s fibrosing thyroiditis is woody hard

Question 44

RANK and RANK-L function in the body

Answer 44

necessary for osteoclast maturation and subsequent bone resorption. OPG and denosumab blocks this

Question 45

hyperthryoid with graves opthalmopathy, what drug treats this?

Answer 45

glucocorticoids, by reducing inflammation

Question 46

what is rT3

Answer 46

created by T4, inactive form of T3

Question 47

how does alcohol affect glucose metabolism

Answer 47

cannot do gluconeogenesis bc of increased NADH/NAD ratio

Question 48

woman fell and broke hip and starved for 2 days, what enzyme is maintaining blood sugar and ketones?

Answer 48

hormone sensitive lipase, makes glucose and ketones from fatty acid

Question 49

what inhibits beta oxidation?

Answer 49

malonyl coA

Question 50

patient with cataracts due to hyperglycemia. what is sorbitol made into?

Answer 50

fructose. aldose reductase makes glucose into sorbitol, which is then made into fructose but this reaction is very slow so chronic hyperglycemia overwhelms this reaction and causes cataract formation

Question 51

sphingomyelinase deficiency, dx and features?

Answer 51

niemann pick disease, common in ashekenazi Jews, hepatosplenomegaly and neurologic regression

Question 52

ApoE3 ApoE4 deficiency dx and what is defective?

Answer 52

familial dysbetaipoproteinemia, VLDL and chylomicron uptake by hepatocytes

Question 53

hyperphenylalanine baby, better after tyrosine supplementation but then later comes back with elevated prolactin. what is going on… doctor thinks a cofactor is missing… aka what enzyme is missing

Answer 53

dihydrobiopterin reductase, which makes BH4, which is a cofactor used in tyrosine to dopamine synthesis. phenylalanine->tyrosine->DOPA->dopamine->catecholamines

Question 54

swollen painful joint in person who takes meds for DM, HTN, HLD, and CAD. aspiration is negative birefringent crystals, dx and what drug contributed to this condition

Answer 54

gout. positive biorefringent is calcium pyrophosphate, pseudogout. diuretics such as hydrocholorothiazide or furosemide cause volume depletion and increase urate concentration

Question 55

central DI patient, tries to wean of ADH supplementation but cannot. so this is due to damage where?

Answer 55

hypothalamic nuclei (permanent central DI is because the nuclei are destroyed)

Question 56

dpp4 inhibitor example and mechanism

Answer 56

gliptins, work by increasing glucose dependent insulin release and slows gastric emptying and decreases glucagon secretion