,

Question 1

congenital hypothyroidism

Answer 1

large fontanelle, tongue, umbilical hernia, lethargy, poor feeding, prolonged jaundice, dry skin. Non-pitting edema.

Question 2

phenylketonuria

Answer 2

musty odor, pigmentation

Question 3

Sulfonylureas (glyburide)

Answer 3

endogenous insulin (inhibition of beta cell K ATP), increased C peptide. Hypoglycemia, weight gain.

Question 4

Pioglitazone

Answer 4

PPAR gamma, decr.insulin resistance; Fluid retention, weight gain.

Question 5

GLP-1 (liraglutide)

Answer 5

decr gastric emp, glucagon. Incr glucose-dep insulin secr.

Question 6

Sitagliptin (DPP-4)

Answer 6

incr GLP-1, GIP. Nasopharyngitis.

Question 7

CAH 21 hydroxylate deficiency

Answer 7

Low cortisol (glucose), salts (aldosterone), high androgens.

Question 8

CAH 17 hydroxylate deficiency

Answer 8

high salts (HTN,hypoK), low cortisol, androgens.

Question 9

Alkaptonuria

Answer 9

black stool, def tyrosine>fumarate. Homogentisic acid accumulation. Ochronosis-to collagen binds> black ears, nose, cheeks.

Question 10

Cystinuria

Answer 10

flank pain, hematuria, stones-child, adolescent.

Question 11

galactosemia

Answer 11

neon jaundice, cataract, hepatomegaly, E.coli sepsis. G1PUT.

Question 12

methimazole

Answer 12

organification (iodine+thyrosine resid), coupling (1T+2T=3T etc.). Thyroid peroxidase.

Question 13

Orphan Annie eye

Answer 13

Papillary thyroid.carcinoma, fine chromatin-empty. Psammoma bodies can also be-calcium deposits.

Question 14

medullary thyroid cancer

Answer 14

polygonal cells, amyloid deposits.

Question 15

FSH men

Answer 15

receptors for testosterone-spermatog )and-bind prot), inhibin B. Sertoli celss=sem.tub.

Question 16

galactorrhea

Answer 16

Dopamine agonist. Dop inh prol. Excess prol>decr GnRH.

Question 17

Cushing syndrome

Answer 17

Excess cortisol. htn, proximal muscle weakness, hyperglycemia,

Question 18

Cushing disease

Answer 18

Pituit.adenoma. ACTH, cortisol high. But with high-dose dexa>low, unlike ectopic.

Question 19

insulin effect on weight

Answer 19

insulin suppr lipase in the fed state (FA not realesed). If DM1>lipase works>dystrophia. Incr AA transport, glycogen synthesis for muscles.

Question 20

Addison

Answer 20

chronic adrenal insufficiency. Atrophy of the cortex (high ACTH, low cortisol).

Question 21

male pseudohermaphroditism

Answer 21

5-a reductase def, lack of DHT (external genitalia). Postpuberty- voice, scrotal, penile growth, muscles, testes descent occurs.

Question 22

VIPoma

Answer 22

Cl>H2O, Na, K loss (incr cAMP).

Question 23

whipple disease

Answer 23

distendended macrophages in the intestines.lamina propria. Malabs diarrhea, weight loss, joint pain.