Endocrinology Flashcards
DM type I
- onset: slow in adults, rapid in children, autoimmune, Finland/Sardinia (by Italy)
- Type 1A: immune mediated, HLA associated, white, no FHx, autoantibody (+)
- Type 1B: idiopathic, AA/Asian, autoantibody (-), FHx
- sxs: 3Ps (polyuria, polydipsia, polyphagia), wt loss, infxn, nocturia, blurry vision
- dx: autoimmune markers, GAD65 autoAbs, islet cell autoAbs, insulin autoAbs, C-peptide low (no active insulin in body)
- tx: insulin pen, vial and basal bolus with carb counting, check gluc at least 4x daily
DM type II
- insulin resistance: hyperinsulin at first, then hypoinsulinemic
- insulin resistance doesnt change - insulin secretion changes, B-cell decline gradual, def of amylin, def of GLP-1: stops glucagon, satiety, inc insulin release, postprandial gluc increases over time
- RF: first deg relative, age, obesity
- sxs: blurred vision, 3Ps, WIN, Acanthosis nigricans, ketonuria and wt loss (rare), fatigue, pruritus, recurrent candidal vaginitis, blurred vision, poor wound healing
- dx: randome glucose >200 (w/ sxs), fasting >126 (2+ occasions), HbA1C >6.5%, OGTT if fasting 100-125, diabetic dyslipidemia (high TGs, low HDL, altered LDL)
- tx: diet, exercise, wt loss, metformin
- goal of HbA1C = 6-6.5, FBS goal = 100-124, 1-2 PP (<180), screen annually
dawn phenomenon and somogyi phenomenon
- dawn phenomenon: increased resistance to insulin in the early morning d/t counter-reg hormones
- tx: increase overnight basal insulin, exercise, metformin, TZD
- somogyi phenomenon: rebound fasting hyperglyc following undetected hypoglyc overnight, excess hunger, wt gain, worsening hyperglyc
- tx: dec overnight basal insulin or eat a snack at bedtime
hyperthyroidism
- associated: afib
- subclinical hyperthyroidsim = low TSH, normal T3/T4
- sxs: anxiety, insomnia, irritability, palps, wt loss, heat intolerance, sweating, D, increased freq, oligomen, tremor, hyperactivity, tremulousness
- signs: moist skin, tachycardia, hyperreflexia, flushed, diaphoretic, wide pulse pressure
- dx: Primary hyperthyroid - TFTs (TSH low, total T3 high, free T4 high)
- autoantibody tests (antithyroid peroxidase Ab, TS-immunoglob
- scintigraphy (thyroid scan) - if etiology unclear after initial labs
- tx: propranolol, methimazole, propylthiouracil (can . use in preg and thyroid storm), RAI tx, thyroidectomy
hypothyroid
- primary: failure of thyroid to produce sufficient T3 (iatrogenic - prior tx of hyper thyroid, hashimotos)
- secondary: hypothyroid dt pituitary dz, low TSH/free T4
- tertiary: dt hypothal dz (TRH def), low TSH/free T4
- associated: carpal tunnel syndrome
- sxs: constipation, fatigue, lethargy, weakness, wt gain, depression, menorrhagia, cold intolerance, cramps, slow mentation, inability to concentrate, dull expresion, m weakness, arthralgias, hoarseness
- signs: dry, rough skin, coarse hair, palpable enlarged thyroid, brittle nails, puffy face and eyelids, yellowing of skin (carotenemia), decreased DTRs
- dx: thyroid fn tests
- primary: high TSH (most sensitive)
- secondary: low TSH
- tertiary: low TSH
- free T4 low in clinically overt
- Ab testing, CBC (normocytic anemia MC)
- tx: levothyroxine (T4) → effects in 2-4wk →monitor TSH and clinical state periodically
Grave’s dz (diffuse toxic goiter)
- 80%, metabolically active gland, MCC of hyperthyroidism, mostly younger women with other autoimmune conditions, Autoimmune (thyroid stimulating IgG Ab binds TSH receptors on surface o f thyroid cells triggering synthesis of excess thyroid hormone)
- sxs: pretibial myxedema, exophthalmos (periorbital edema, diplopia, or proptosis), thyroid bruit, diffusely enlarged, symmetric, nontender gland
- dx: measurement of thyroid Abs (anti-TPO high, TSI high), scintigraphy (diffuse uptake)
- tx: antithyroid meds, radioactive iodine preferred, saline eye drops and tight fitting sunglasses, high dose steroids with orbital decompresison surgery and ocular radiation tx for severe exophthalmos
thyroid storm
- rare, life-threatening complication of thyrotoxicosis, acute exacerbation of hyperthyroidism
- precipitating factors: infxn, DKA, stress (trauma, surgery, illness, labor)
- sxs: marked fever, agitation, psychosis, confusion, nausea, vomiting, diarrhea, signs: tachycardia
- tx: supportive tx, antithyroid agents (PTU q2h, iodine), BB, dexameth (generates peripheral T3 from T4, adrenal support
- high mortality (20%)
hashimoto’s thyroiditis
- MCC: autoimmune thyroid disorder and MCC hypothyroidism
- MC in F, genetics + FH common, slow decline in thyroid fn
- sxs: puffiness of face and . eyelides: periorbital myxedema, thinning of outer halves of eyebrows, goiter (MC feature) - hard, nonpainful, nontender, multinodular, irregular, asymmetric
- dx: antiperoxidase Abs (90% +), anti thyroglobulin . Ab, antimicrosomal Ab high, irregular I-131 on thyroid scan (not required to DX)
- tx: levothyroxine (T4)
myxedema coma
- rare condition, precipitating factors (cold exposure, infxn, trauma, narcotics)
- sxs: depressed state of consciousness, profound hypothermia, resp depression
- tx: supportive tx for BP and breathing, IV thyroxine, IV hydrocortisone
- high mortality rate (50-75%)
primary adrenal insufficiency (addison dz)
- chronic adrenocortical insufficiency
- adrenal gland does not produce cort, aldosterone, or sex hormones (retain no sodium), primary adrenal failure from autoimmune adrenalitis
- sxs: hyperpig dt increased ACTH, MSH (POMC), anorexia, abdominal pain, N, V, wt loss, lethargy, confusion, psychosis, weakness, malaise, postural HoTN, dizziness, salt craving
- signs: hypotension (orthostasis)
- dx: electrolytes (hyponat, hyperkalemia, hypoglycemia, hypercalcemia, elevated SCr), low serum cort, high ACTH, low aldo and high renin
- cosyntropin test = definitive (cort will not elevate sufficiently → test also known as astandard ACTH test
- tx: daily oral steroids (hydrocort, prednisone), daily fludrocort (mineralocort)
secondary adrenal insufficiency
- long-term steroid therapy - most common cause overall, dysfunciton of hypothalamic pituitary . component of HPA axis: only steroid and androgen deficiency present
- sxs: hx of prior use of oral steorids shuts down adrenal axis and causes acute adrenal crisis when stopped (weakness, malaise, postural HoTN, lethargy, confusion, psychosis)
- sings: alabaster pale skin
- dx: electrolytes (hyponat, hyperkalemia, hypoglyc, serum cort low, serum ACTH low, nl aldosterone and renin, ACTH test → cort will not respond at all)
- tx: only daily steroid required
addisonian (adrenal) crisis
- HoTN refractory to IV fluids or acutely ill pts with chronic steroid use (moon facies, buffalo hump), any stress can precipitate adrenal crisis
- sxs: fatigue, anorexia, generalized aches, weakness, lethargy, abd pain, N, V
- signs: severe HoTN (orthostasis)
- dx: hyponatremia, hyperK, hypoglyc, elevated SCr, metabolic acidosis, acute renal failure, cortisol low, ACTH stim test or cosyntropin test (cort will not elevate sufficiently)
- tx: IV hydrocortisone, fludrocortisone, IV fluids, monitor fluid intake and output, and serum K levels frequently
primary aldosteronism (Conn syndrome)
- benign adenoma of the adrenal cortex (makes aldosterone, retian sodium)
- sxs: pt on no meds with HTN
- dx: hypokalemia (unprovoked), hypernatremia
cushing syndrome
- excessive exogenous cort, MCC = iatrogenic dt prescribed prenisone, androgen excess absent (exog steroids suppress production by adrenals), second MCC = ACTH secreting adenoma (AKA cushing dz) →bilateral adrenal hyperplasia (androgen excess common)
- sxs: striae, buffalo hump, central obesity, moon facies, lanugo, acne, easy bruising, proximal muscle weakness and wasting, osteoporosis, AVN of fem head, HA, depression, mani
- signs: HTN, DM, menstrual irreg, infertility, Cushing dz only = masculinization
- dx: HD dexamethasome suppression test, midnight serum cortisol, late night salivary cort, urinary free cort, CT or MRI, sustained elevated cort, hypoK, hyperglyc, glucosuria
- tx: if iatrogenic → taper steroids, if ACTH secreting adenoma, transphenoidal resection of tumor, adrenal adenoma → pit radiation, med adrenalectomy, bilateral adrenalectomy, ectopic ACTH production (2/3 SCC from lungs)
hyperparathyroidism etiology and sxs
- Primary: one or more glands produce inappropriate PTH relative to Ca2+
- MCC: parathyroid adenoma
- secondary: high PTH and low or nl Ca2+
- MCC: chronic renal failure, vitD def, renal hypercalciuria, most found incidentally by hypercalcemia on routine labs, most F>50
- sxs: most asxatic; stones, bones, groans, psychiatric overtones
- stones: nephrolithiasis, frequent urination
- bones: body aches and pains, osteitis fibrosa cystica (brown tumors - predisposes to fx), weakness
- groans: abdominal pain, constipation, N/V/A
- psychiatric overtones: depression, fatigue, anorexia, sleep disturbance, anxiety, lethargy
- signs: HTN, dec DTRs
hyperparathyroidism dx and tx
- dx: serum Ca2+ HIGH, serum phosphate LOW, serum PTH HIGH (first line)
- total and ionized Ca2+ high, alb low, urine caAMP high
- XR: subperiosteal bone resorption, osteopenia
- tx: if serum Ca2+ >12 - IV fluid resuscitation; otherwise follow up
- primary: BB, k-phos supplement, dietary calcium restriction, bisphosphonates, calcimimetic agents (calcinet), parathyroidectomy
- secondary: 400IU vitD (calcitriol) daily for vitD deficiency (annual Ca and Cr measurements, annual KUB for stones, DEXA q2-3y), PO Ca, dietary phos restriction for renail failure
pheochromocytoma etiology, sxs
- rare, secrete catecholamines from adrenal medulla, arise from chromaffin cells (adrenal medulla) or from sympathetic ganglia (extrarenal)
- associated with MEN 2A and MEN 2B, von recklinghausen neurofibromatosis, von hippellindau dz
- sxs: paroxysms of HA, profuse sweating, palps, wt loss, feelings of warmth along with episodic (later sustained) hypertension, sometimes severe, feeling of impending doom
- signs: tachycardia
pheochromocytoma dx and tx
- dx: 24h urine metanephrines, plasma mets > urine mets, CT or MRI, glucosuria, hyperlip, hypokalemia, hypercalcemia
- tx: give clonidine if equivocal results, tumor resection with ligation of venous drainage (laparoscopic adrenalectomy) - alpha blockers (phenoxybenzamine x10-14d prior to surgery to control BP and replete intravascular volume), beta blockers - propranolol 2-3d prior to surgery to control HR
- fatal if left undiagnosed and treated
thyroid nodules
- cancer found in 4-10% of investigated nodules
- sxs: fixed nodule without mvmt on swallowing (firm, irregular), hx of radiation tx to neck or family hx, rapid progression, obstructive sxs = vocal cord paralysis, dysphagia, odynophagia
- signs: must be >1cm to be palpable on exam
- dx: thyroid tests (TSH, T3, T4, serum calcitonin high), thyroid US (only differentiates solid vs cystic), FNA bx (even if clinically and chem euthyroid, if palpable or >1.5cm, only reliable test that differentiates benign vs malig, reliable for all cancers, except follicular - if indeterminate - RAI uptake
- tx: benign - observe 1y, fu with US, radioactive iodine tx (prefer if <40y and reliable for lifetime T4 - levothyroxine; for overactive thyroid w/o risk of subsequent cancer, leukemia, or other malig), thyroidectomy (cold nodules)
thyroid cancer - differentiated papillary thyroid carcinoma
- F>M 3:1
- MC type (80-90%), least aggressive, slow growth and spread
- RF: hx of radiation to head/neck, papillary cancers are characterized histologically by psammoma bodies
- sxs: typically found incidentally on exam - thyroid nodule
- dx: TSH normal, T3/T4 normal, thyroid US differentiates solid vs cystic, FNA required for dx (psammoma bodies), RAI uptake +
- tx: total thyroidectomy with limited cervical lymph node removal
- complications: vocal cord paralysis, hypoparathyroidism (hypocalcemia), hypothyroid
- postop radioactive iodine ablation tx
- spreads via lymphatics in neck, metastasizes to cervical lymph nodes
medullary thyroid carcinoma
- neuroendocrine tumor of the parafollicular or C cells of the thyroid gland, 3-5% of thyroid carcinomas
- associated with familial syndromes in about 1/3 of the cases (MEN 2A or 2B)
- sxs: dysphagia, hoarseness, diarrhea, facial flushing
- signs: palpable solitary thyroid nodule (MC presentation) in upper portion of thyroid lobe, cervical lymph nodes palpable
- dx: US of neck (hypoechoic microcalcifications), labs (calcitonin elevated, CEA), FNA bx (diagnostic), genetic testing for germline RET mutations
- tx: total thyroidectomy most commonly recommended
- thyroxine tx started immediately post-op to maintain euthyroidism
- health maintenance: measure serum calcitonin and CEA 2-3mos after surgery to ro residual dz (if undetectable, measure levels twice yearly x2y, then annually if stable, neck US 6-12mo postop
hypoparathyroidism
- MCC: head and neck surgery - thyroidectomy, parathyroidectomy; nonsurgical is rare
- sxs: numbness and tingling - fingers, toes, tip of nose
- tetany (hyperactive DTRs), rickets, osteomalacia, cataracts
- signs: chvostek sign (tap facial nerve, contraction of muscles), trousseau sign (carpal spasms with inflating BP cuff higher than systolic BP x3 min)
- dx: EKG QT prolongation, PTH low, Ca low, phosphate high, urine Ca low, nl alk phos
- tx: mild to mod - PO calcium supplements, vit D (calcitriol) - too high can cause stones
- severe: IV Ca gluconate
Diabetes insipidus
- Diabetes insipidus - excretion of large volume of dilute urine
- sxs: polyuria, nocturia, polydipsia
- dx: hypernatremia, 24h urine collection, urine osmolality LOW, water restriction test = confirmatory (differentiates central DI from primary polydipsia)
Primary polydipsia
- Primary polydipsia (psychogenic, middle aged women with psych illness, carbamazepine, thiazides - hyponatremia) - DONT treat with antidiuretics - eliminating polyuria does not eliminate urge to drink
central diabetes insipidus
- neurohypophyseal - deficient secretion of ADH resulting in variable degree of polyuria
- SODIUM IS HIGH IN CENTRAL DI
- idiopathic, possibloy autoimmune injury to ADH producing cells, MC type
- sxs: polyuria, abrupt, excretion of dilute colorless urine, polydipsia, nocturia
- dx: hypernat, urine osmolality LOW, water restriction and desmopressin test inc urine osmolality by 300, ADH LOW
- tx: desmopressin PO, nasal spray, or injection, chlorpropamide increases ADH secretion and enhances effect of ADH
Nephrogenic Diabetes insipidus
- normal ADH secretion, but varying renal resistance to water-retaining effect
- children: x-linked; acquired from drug exposure (chronic lithium use, amphotericin B, metabolic conditions - hypercalcemia, hypokalemia), or renal damage
- sxs: polyuria (gradual), nocturia
- dx: hypernatremia, urine osmolality low, water restriction and desmopressin test: will not increase urine osmolality, ADH nl to high
Paget disease of the bone (osteitis deformans) etiology and sxs
- MC sx: bone pain
- Age 60+, M=F, rare before age 40
- viral: paramyxovirus (measles, RSV, canine distemper virus)
- genetic: familial
- localized disorder of accelerated bone remodeling
- sxs: asxatic in 70-90%, bone pain (pelvis, lumbar, spine, skull, prox femur - mild to severe, not related to physical activity), periarticular pain (hip, knee, spine), neuro sxs (nonspecific HA, deafness)
- signs: mixed conductive and sensory hearing loss, frontal bossing of forehead or maxilla
- complications: chalk stick fractures, osteosarcoma, chondrosarcoma, fibrosarcoma, nephrolithiasis, gout
paget dz of the bone dx and tx
pituitary adenoma
- tumors arising in the anterior pituitary - compresses pituitary, then optic chiasm - cavernous sinus - third ventricle, temporal lobes, posterior fossa
- 60-70% PRL secreting, 10-15% growth hormone, small amnt ACTH
- sxs: HA, complete or partial bitemporal hemianopia, oculomotor palsy
- complications: DI, somnolence, CSF rhinorrhea, seizures
- dx: MRI with gadolinium
- tx: transsphenoidal surg or stereotactic radiosurgery
acromegaly
- broadening of skeleton due to excess GH after epiphyseal closure
- MCC: 10% caused by GH secreting pit adenoma
- MCC death: cardiovasc dz
- prior to puberty, oversecretion of GH leads to gigantism
- sxs: growth promotion (soft tissue and skeletal overgrowth, coarse facial features, abnly large hands/feet, organomegaly, arthralgias, prognathism), metabolic disturbances (diabetes, hyperhidrosis), parasellar manifestations (HA, bitemporal hemianopsia, cavernous sinus compression, sphenoid sinus invasion, HTN and OSA)
- complications: hypertrophic CM
- dx: GH elevated, IGF-1 very high, OGTT fails to suppress GH, MRI, random GH level NOT USEFUL
- tx: octreotide, bromocriptine, transsphenoidal surg (1st line), radiation
hypernatremia
- MC in elderly owing to inadequate water intake and loss
- sxs: muscle weakness, pain, tachycardia, hypotension
- complications: rhabdomyolysis, obtundation, coma
- dx: Na >145, calculate free water deficit (TBW x Na(measured) - Na(desired))
- tx: acute hypernatremia - occurs within <48h, correct rapidly (hypotonic saline solution - 0.45% NSS)
- chronic hypernatremia - correct slowly over 48-72h
Hyponatremia
- excess of total body water in relation to Na, primarily a disorder of H2O homeostasis
- sxs: N/V, confusion, lethargy, disorientation, weakness, cramps, severe = szs, coma, death
- signs: decreased DTRs
- complications: central pontine myelinolysis occurs if you correct too quickly
- dx: serum osmolality Na <135, serum glucose
- tx: presence, absence, or severity of sxs determines urgency of tx
- hyponat >48h puts pt at risk for osmotic demyelination syndrome - corrected by >10-12mM in first 24h
- response to hypertonic saline or vasopressin antagonists requires frequent monitoring of Na (q2-4h)
hypocalcemia
- increased neuromuscular irritability
- associated: rickets and osteomalacia, basal ganglia calcifications
- sxs: asxatic, numbness, tingling - circumoral in fingers, toes, face (periorbital, tip of nose), tetany, grand mal seizures
- signs: hyperactive DTRs, chvostek sign - tapping a facial nerve leads to a contraction (twitching) of facial muscles, trousseau sign - inflate BP cuff to a pressure higher than the pts systolic BP x3min - elicits carpal spasms
- dx: EKG arrhythmias, QT prolongation, BUN/Cr, Mg, albumin, ionized Ca, amylase, lipase, LFTs, serum PO4 high in renal insuff and hypopara, PTH, hypoparathyroidism = low; vit D def = high, pseudohypoparathyroidism = very high
- tx: if sxatic IV Ca gluconate, long term = oral CaCO3 and vitD, PTH def - replace with vitD and high oral Ca intake, thiazide diuretics lower urinary Ca and prevent urolithiasis, correct hypomag - very difficult to correct Ca if you dont correct magnesium first
hypercalcemia
- Children - hypotonicity, muscle weakness, apathy, mood swings, bizarre behavior, N/V, abd pain
- signs: hyperextensibility of joints, hypertension, bradycardia, cardiac anomalies, short QT interval, intractable peptic ulcer, pancreatitis, decreased DTRs
- dx: draw same labs as for hypocalcemia (serum Ca > 11, slit lamp exam (band keratopathy - deposits in cornea or conjunctiva), radioimmunoassay of PTH high, bone scan or bone surgery for lytic lesions, urinary cAMP - elevated in primary PTH
- tx: inc urinary excretion (vigorous hydration - IV normal saline = first step, loop diuretics)
- inhibit bone resorption in pts with malignancy, bisphosphonates, calcitonin, give steroids if vitamin D related and multiple myeloma, hemodialysis for renal failure
complications of hypercalcemia
- Stones: nephrolithiasis, nephrocalcinosis
- Bones: bone aches/pains, osteitis fibrosa cystica (brown tumors)
- Grunts and groans: muscle pain and weakness, pancreatitis, PUD, gout, constipation
- psychiatric overtones: depression, fatigue, anorexia, sleep distubances, anxiety, lethargy
- other findings: polydipsia, polyuria, HTN, wt loss, short QT