Repro and Endocrine Flashcards
woman with loss of distal eyebrow hair, weight gain, presents with galactorrhea, dx?
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
floppy baby with cardiomegaly and gallop rhythm, muscle biopsy shocryws enlarged lysosomes with PAS positive material, what is dx?
Pompe disease (glycogen storage disease type 2) lacks Acid-a-glucosidase. hallmark is muscle biopsy and glycogen in lysosomes
guy with klinefelters, what hormone is elevated in this patient?
Estrogen and LH and FSH because of lack of testosterone production and lack of feedback inhibition
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?
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
two arrests in oogenesis when and at what stage?
prophase of meiosis 1 until ovulation and metaphase of meiosis 2 until fertilization
thick white vaginal discharge with budding cells, what are risk factors of this condition?
antibiotics or immunosuppression
cryptorchidism, testis is medial to the mid inguinal point, where does it need to be brought through?
superficial inguinal ring which is external oblique aponeurosis. transversalis fascia is the deep inguinal ring
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?
craniopharyngioma- rathke’s pouch
what is the function of human placental lactogen
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
patient with T2DM, fasting glucose normal but postprandial glucose in uncontrolled, what insulin regime to start on?
postprandial should be the short acting insulins, which is aspart, lispro, glulisine. the long acting is demetir, glargine, degludec (they sound slow)
glucagon uses what signaling pathway?
cAMP and protein kinase A (flat chAMP gg)
guy with zollinger elison (gastrinoma) what other family history?
recurrent nephrolithiasis due to hypercalcemia in primary hyperparathyroidism in MEN1. 3Ps of MEN1: pituitary, pancreas, parathyroid
fat redistribution, like cushings, dx?
HIV drug- antiretroviral side effect
person with mosaic turners syndrome what kind of mosaicism is it? germline or somatic
somatic because phenotypically evident. if germline that only the genes passed to the offspiring
baby with seizures, blue eyes and musty body odor, what is an essential amino acid for this patient?
tyrosine! essential means the downstream after the enzyme, so in this case phenylalanine hydroxylase is missing in PKU, so tyrosine is essential
woman taking antiepileptics with polyhydramnios, cause? broad causes then specifics
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)
ER positive breast cancer, what does anastrozole do?
aromatase inhibitor
anosmia dx? and mechanism
kallman’s in hypothalamus because GnRH secreting neurons do not migrate properly to hypothalamus
bitemporal hemianopsia with headaches, what question do you as k next to a man?
decreased libido. prolactinoma is the most common functional pituitary adenoma
what does FSH do in guys
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
drug A given before epinephrine paradoxically increases insulin. what is drug A’s action?
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
fever, uterine tenderness, foul smelling tissue after abortion. what is the organism?
staph aureus (or can be e coli or GBS). gardnerella does not cause this septic abortion picture
past history of prostate CA on leuprolide, incidental finding of bone osteopenia. what is mechanism
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
man on drugs for hypertension, what is cause of hypercalcemia and low PTH hormone?
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
where is 21 hydroxylase found in cell?
smooth Er
what is epi and hypospadia due to?
genital tubercle misplacement; urethral fold incomplete
which arteries supply the testes in testicular torsion?
gonadal artery from the abdominal aorta. pampiniform plexus in testes is engorged during torsion
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?
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)
tamoxifen side effects?
hot flashes and endometrial hyperplasia. it is a selective estrogen receptor modulator, a competitive inhibitor, but has stimulatory effect on bone and uterus
cystic hygroma, lymphedema and diminished femoral pulses, dx?
Turners
hsg shows bicornuate uterus, what process was defective?
lateral fusion of the paramesonephric ducts
pregnant mom with rash from head downwards, postauricular LAD. dx and what will baby have?
rubella, (measles is 3c’s) mom will likely have polyarthralgia, and baby will have deafness, cataracts, PDA
PCB, yellow vaginal discharge, purulent discharge from cervical os, friable cervix, NAAT positive, what is dx and complication?
cervicitis (gonorrhea and chlamydia) infertility due to PID
big adnexal mass in the right with no blood flow to ovary, patient with pain, dx and what ligament is involved?
ovarian torsion around the IP ligament (carries the ovarian vessels)
patient who had irregular menses is pregnant now, AFP is low, what could it be?
incorrect dating because of irregular menses, but ddx is trisomy 18, 21 for true low AFP. high AFP- neural tube defects
how to regain fertility in PCOS?
lose weight and clomiphene (SERM) that reverses negative feedback in hypothalamus so it produces GnRH
bleeding from right nipple, in 34 yo, no other masses or skin changes or pain. dx?
intraductal papilloma- most common cause- papillary projections with fibrovascular core
HSIL patient what is histology?
expansion of basal cells to the epithelial surface
pyruvate dehydrogenase deficiency, what is essential for this person?
leucine and lysine- the only purely ketogenic amino acids
Vitamin D toxicity, what disease process is similiar to this?
sarcoidosis, TB (granulomatous dz)
insulin lifecycle:
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
5month old that has cardiomyopathy,muscle weakness, no ketones in urine, hypoketotic hypoglycemia, etc. muscle biopsy shows carnitine deficiency, what is deficient?
ketone bodies (acetoacetate). Carnitine transports fatty acids into the mitochondria for beta oxidation. if cannot do this then cannot make acetyl coA and ketones
painful goiter, diffuse decreased iodine uptake, high ESR. what is dx and biopsy results?
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
RANK and RANK-L function in the body
necessary for osteoclast maturation and subsequent bone resorption. OPG and denosumab blocks this
hyperthryoid with graves opthalmopathy, what drug treats this?
glucocorticoids, by reducing inflammation
what is rT3
created by T4, inactive form of T3
how does alcohol affect glucose metabolism
cannot do gluconeogenesis bc of increased NADH/NAD ratio
woman fell and broke hip and starved for 2 days, what enzyme is maintaining blood sugar and ketones?
hormone sensitive lipase, makes glucose and ketones from fatty acid
what inhibits beta oxidation?
malonyl coA
patient with cataracts due to hyperglycemia. what is sorbitol made into?
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
sphingomyelinase deficiency, dx and features?
niemann pick disease, common in ashekenazi Jews, hepatosplenomegaly and neurologic regression
ApoE3 ApoE4 deficiency dx and what is defective?
familial dysbetaipoproteinemia, VLDL and chylomicron uptake by hepatocytes
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
dihydrobiopterin reductase, which makes BH4, which is a cofactor used in tyrosine to dopamine synthesis. phenylalanine->tyrosine->DOPA->dopamine->catecholamines
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
gout. positive biorefringent is calcium pyrophosphate, pseudogout. diuretics such as hydrocholorothiazide or furosemide cause volume depletion and increase urate concentration
central DI patient, tries to wean of ADH supplementation but cannot. so this is due to damage where?
hypothalamic nuclei (permanent central DI is because the nuclei are destroyed)
dpp4 inhibitor example and mechanism
gliptins, work by increasing glucose dependent insulin release and slows gastric emptying and decreases glucagon secretion
