WT - Endo Flashcards
MEN1
3Ps
- Pituitary adenoma (prolactinoma, or GH secreting)
- Parathyroid adenoma (stones, constipation)
- Pancreatic-duodenal tumor (usu gastrinomas, ZE. rarely insulinoma/glucagonoma/VIPoma)
- rare, AD, menin mut
- 2 hit hypothesis
*check serum levels before PPI admin
MEN2A
- thyroid medullary CA (calcitonin - C cells)
- Parathyroid hyperplasia
- Pheochromocytoma
-AD, germline mut in RET (protooncogene - TK)
^GoF, only need 1 hit
tx: prophylactic thyroid removal (eval for pheo first)
MEN2B
- thyroid medullary CA (calcitonin - C cells)
- Marfanoid
- Mucosal neuromas (lips/tongue)
- Pheochromocytoma
-AD, germline mut in RET (protooncogene - TK)
^GoF, only need 1 hit
tx: prophylactic thyroid removal (eval for pheo first)
VIPoma
WDHA
- Watery Diarrhea
- HypOkalemia
- Achlorhydria
via parasympathetic ganglia in sphincters, gallbladder, SI
primary hypERparathyroid sx/dx
most comm via parathyroid adenoma/hyperplasia
also poss MEN
sx:
- stones,groans,psychiatric overtones
- nephrocalcinosis
- acute pancreatitis (Ca active enz)
- osteitis fibrosa cystica (subperiosteal, brown tumors (hemosiderin+collections of giant osteoclasts))
- constipation
dx:
inc serum PTH, inc serum Ca
dec serum phos
inc urinary cAMP/inc ALK phos (via PTH activ osteoblasts)
secondary hypERparathyroid sx/dx
via CKD
-bone pain/fractures = predominant sx
dx:
inc serum PTH, dec serum Ca
inc serum phosphate
inc alk phos
tertiary hypERparathyroid sx/dx
refractory (autonomous) hyperPTH via CKD
dx: VERY high PTH levels, inc Ca (parathyroid gone rouge, may req removal)
familial hypOcalciuric hypERcalcemia
- rare, AD, benign, asymp
- abnml Ca sensory r
- takes a lot more Ca to suppress PTH secretion
- xs Ca reabsorption @ kidney
dx: usu nml PTH, inc serum Ca
* dec urine Ca*
hypOparathyroid sx/dx
via systemic disease (hemochromatosis, wilson, mets, DiGeorge)
or surg excision (accidental due thyroid removal)
or AI poly endocrine syndrome type I
sx:
- neuromuscular irritability
- tetany (Trousseau-hand spasm w/ BP cuff, Chvostek-facial contraction w. tap on VII)
- seizures
autoimmune polyendocrine syndrome type I
- rare AR disorder
- mut of AI reg. gene (AIRE)
sx:
- mucocutaneous candidiasis
- hypOparathyroidism
- adrenal insufficiency
- recurrent candida infections
psuedohypOparathyroidism type 1A
PTH RESISTANCE
AD via MATERNAL inherited mut
-GNAS inactivating mut (impaired G-protein which is coupled to PTHr, can’t respond to PTH)
sx: Albright’s hereditary osteodystrophy
- short stature/fingers (4/5 MC)
- round face
- devel delay
- subQ calcif
dx:
inc serum PTH (approp, but can’t correct dec Ca bc kidneys unresponsive)
dec Ca
inc phos
pseudoPSEUDOhypOparathyroidism
PTH RESISTANCE
AD via PATERNAL inherited mut
–GNAS inactivating mut, but w/o end-organ damage bc normal maternal allele maintains renal responsiveness
sx: Albright’s hereditary osteodystrophy
- short stature/fingers (4/5 MC)
- round face
- devel delay
- subQ calcif
dx:
normal PTH/Ca/phos
