Endocrine Flashcards
Subacute granulomatous thyroiditis
- after viral illness
- PAINFUL thyroid enlargement
- transient hyperthyroid symptoms
Histo: inflamm infiltrate with macrophages and giant cells
Haschimoto thyroiditis
- autoimmune
- PAINLESS enlargement
TPO antibody
Lymphocytic infiltrate with well developed germinal centers
hurthle cells (eospinophillic)
Kallmann syndrome
Delayed puberty + anosmia
mut in KAL-1 or FBFR-1 gene
failure of GnRH neurons to migrate from origin in olfactory to normal location in hypothalamus
Niacin deficiency
hartnup disease (inactivation of neutral amino acid transporter)
Pellagra-like skin eruptions (after sun exposure)
cerebella ataxia
increased neutral amino acids in urine
tx: high protein diet and niacin supplementation
Maturity onset diabetes of the young
Mutation in glucokinase which decreases affinity for glucose
Nonprograssive hyperglycemia that worsens with pregnancy
GTP synthesis in citric acid cycle
by succinyl coA synthase
succinyl coA to succinate
Phosphoenol pyruvate carxoykinase
uses GTP during starvation to synthesize PEP from oxaloacetate
inhibition of FA oxidation
by malonyl CoA (rate limiting step of de novo FA synthesis) .
Inhibits carnitine acetyltrasnferase
Hyperosmotic volume contraction
Increase plasma osm, decreased vol of ICF and ECF
- DI
- dehydration
- profuse sweating
Hypoglycemia in alcoholic
alcohol increase NADH/NAD ratio, inhibiting all rxn that require NAD
inhibits gluconeogenesis (need pyruvate and oxaloacetate from CAC)
Central DI
damage to hypothalamus
GLUT
Transmembrane CARRIER proteins (bind glucose and facilitate diffusion across membrane)
DKA tG break down
TG is broken into glycerol and fa by lipase
glycerol is converted into glycerol 3-P by glycerol kinase and then enters glycolysis and gluconeogenesis
FA undergo beta oxidation and ketogenesis
Functional hypothalamic amenorrhea
due to low bmi
decrease leptin
decrease gnRH
decrease LH and FSH
decrease estrogen
Tamoxifen
SERM (antagonist at breast)
tx of gynecomastia
Risk factors for insulin resistance
- obesity
- sedentary lifestyle
- elevated free fatty acids (impaired insulin dependent glucose uptake)
Craniopharyngioma
tumors from remnants of Rathke’s pouch located in diencephalon
- tumor cells
- cystic (machine oil)
- calcified
suprasellar mass
Pituitary stalk compression
hyperprolactinoma due to loss of dopaminergic inhibition
Maple syrup urine disease
mutation in branched chain alpha ketoacid dehydrogenase complex (BCKDC)
cannot break down branched aa (leucine, isoleucine, valine)
accumulation leads to seizures, irritability, lethargy, poor feeding
BCKD
mut in maple syrup urine disease
requires 5 cofactors
- thiamine
- lipoate
- coenzyme A
- FAD
- NAD
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Hereditary Orotic Aciduria
disorder of de novo pyrimidine synthesis (defect in UMP synthase)
supplement with uridine
physical and mental retardation, megaloblastic anemia, elevated urinary orotic acid (also seen in ornithine transcarvamylase def, however present in first few weeks of life)
Protein Kinase A G protein receptor
TSH
glucagon
PTH
thyroidectomy post op supplementation
calcium and calcitriol
Familial chylomicronemia
defective LPL or APOC2
elevated TG
Pancreatitis, lipemia retinalis, xanthomas
Familial hypercholesterolemia
defective LDL receptor ApoB-100
elevated LDL
premature atherosclerosis, tendon xanthomas
familial dysbetalipoproteinemia
ApoE
Increased chylomicrons and VLDL remnants
premature atherosclerosis
Familial hypertriglyceridemia
elevated VLDL
MEN 1
Pancreatic tumors (gatrinoma, ZE syndrome)
hyperparathyroid
pit tumor
Exogenous thyrotoxicosis
Elevated T4, suppressed TSH, undetectable thyroglobulin
hyperthyroid symptoms
diffuse atrophy of thyroid follicles with decreased colloid
Smooth ER
Steroidogenesis occurs here, therefore steroid producing cells have well developed smooth ER
Adrenal crisis
sever hypotension, refractory shock, weight loss and hyperpigmentation
Pheo markers
synaptophysin chromogranin, enolase
hyperphenalanemia + increased prolactin
deficiency of dihydrobiopterin reductase (responsible for reduction of BH2 to BH4)
BH4 necessary for Dopamine synthesis therefore decreased BH4 -> decrease dop -> increase PRL
Metabolic acidosis compensation
PaCO2=1.5*HCO3 + 8 +-2
Ketoconazole anti androgen effects
inhibits testosterone synthesis in leydig cells
5 alpha reductase
inhibits peripheral conversion of testosterone to DHT
(finasteride
androgen receptor inhibitor
- flutamide
- cyproterone
- spironolactone
