, Flashcards
congenital hypothyroidism
large fontanelle, tongue, umbilical hernia, lethargy, poor feeding, prolonged jaundice, dry skin. Non-pitting edema.
phenylketonuria
musty odor, pigmentation
Sulfonylureas (glyburide)
endogenous insulin (inhibition of beta cell K ATP), increased C peptide. Hypoglycemia, weight gain.
Pioglitazone
PPAR gamma, decr.insulin resistance; Fluid retention, weight gain.
GLP-1 (liraglutide)
decr gastric emp, glucagon. Incr glucose-dep insulin secr.
Sitagliptin (DPP-4)
incr GLP-1, GIP. Nasopharyngitis.
CAH 21 hydroxylate deficiency
Low cortisol (glucose), salts (aldosterone), high androgens.
CAH 17 hydroxylate deficiency
high salts (HTN,hypoK), low cortisol, androgens.
Alkaptonuria
black stool, def tyrosine>fumarate. Homogentisic acid accumulation. Ochronosis-to collagen binds> black ears, nose, cheeks.
Cystinuria
flank pain, hematuria, stones-child, adolescent.
galactosemia
neon jaundice, cataract, hepatomegaly, E.coli sepsis. G1PUT.
methimazole
organification (iodine+thyrosine resid), coupling (1T+2T=3T etc.). Thyroid peroxidase.
Orphan Annie eye
Papillary thyroid.carcinoma, fine chromatin-empty. Psammoma bodies can also be-calcium deposits.
medullary thyroid cancer
polygonal cells, amyloid deposits.
FSH men
receptors for testosterone-spermatog )and-bind prot), inhibin B. Sertoli celss=sem.tub.
galactorrhea
Dopamine agonist. Dop inh prol. Excess prol>decr GnRH.
Cushing syndrome
Excess cortisol. htn, proximal muscle weakness, hyperglycemia,
Cushing disease
Pituit.adenoma. ACTH, cortisol high. But with high-dose dexa>low, unlike ectopic.
insulin effect on weight
insulin suppr lipase in the fed state (FA not realesed). If DM1>lipase works>dystrophia. Incr AA transport, glycogen synthesis for muscles.
Addison
chronic adrenal insufficiency. Atrophy of the cortex (high ACTH, low cortisol).
male pseudohermaphroditism
5-a reductase def, lack of DHT (external genitalia). Postpuberty- voice, scrotal, penile growth, muscles, testes descent occurs.
VIPoma
Cl>H2O, Na, K loss (incr cAMP).
whipple disease
distendended macrophages in the intestines.lamina propria. Malabs diarrhea, weight loss, joint pain.
