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Endocrine - Pathology Flashcards

1
Q

Cushing syndrome (317)

  • Etiology
  • Findings
  • Diagnosis
    • Screening tests include:
    • Measure/
    • Ectopic secretion
A
  • Etiology
    • Increased cortisol due to a variety of causes:
      • Exogenous corticosteroids
        • # 1 cause
        • Results in decreased ACTH, bilateral adrenal atrophy.
      • Primary adrenal adenoma, hyperplasia, or carcinoma
        • Results in decreased ACTH, atrophy of uninvolved adrenal gland.
        • Can also present as 1° aldosteronism (Conn syndrome).
      • ƒƒ ACTH-secreting pituitary adenoma [A] (Cushing disease)
        • Paraneoplastic ACTH secretion (e.g., small cell lung cancer, bronchial carcinoids)
        • Results in increased ACTH, bilateral adrenal hyperplasia.
        • Cushing disease is responsible for the majority of endogenous cases of Cushing syndrome.
  • Findings
    • Hypertension, weight gain, moon facies, truncal obesity [B], buffalo hump, hyperglycemia (insulin resistance), skin changes (thinning, striae), osteoporosis, amenorrhea, and immune suppression.
  • Diagnosis
    • Screening tests include: increased free cortisol on 24-hr urinalysis, midnight salivary cortisol, and overnight low-dose dexamethasone suppression test:
    • Measure serum ACTH.
      • If decreased, suspect adrenal tumor.
      • If increased, distinguish between Cushing disease and ectopic ACTH secretion with a high-dose (8 mg) dexamethasone suppression test and CRH stimulation test.
    • Ectopic secretion
      • Will not decrease with dexamethasone because the source is resistant to negative feedback
      • Will not increase with CRH because pituitary ACTH is suppressed.
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2
Q

Hyperaldosteronism

  • Primary
    • Definition
    • Treatment
  • Secondary
    • Definition
    • Treatment
A
  • Primary
    • Definition
      • Caused by adrenal hyperplasia or an aldosterone-secreting adrenal adenoma (Conn syndrome), resulting in hypertension, hypokalemia, metabolic alkalosis, and **low **plasma renin.
        • Normal Na+ due to aldosterone escape = no edema due to aldosterone escape mechanism.
      • May be bilateral or unilateral.
    • Treatment:
      • Surgery to remove the tumor and/or spironolactone, a K+-sparing diuretic that acts as an aldosterone antagonist.
  • Secondary
    • Definition
      • Renal perception of low intravascular volume results in an overactive renin-angiotensin system.
      • Due to renal artery stenosis, CHF, cirrhosis, or nephrotic syndrome.
      • Associated with high plasma renin.
    • Treatment
      • Spironolactone.
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3
Q

Addison disease

  • Definition
  • Characterized by/
  • 1° vs. 2°
A
  • Definition
    • Chronic 1° adrenal insufficiency due to adrenal atrophy or destruction by disease (e.g., autoimmune, TB, metastasis).
    • Deficiency of aldosterone and cortisol, causing hypotension (hyponatremic volume contraction), hyperkalemia, acidosis, and skin and mucosal hyperpigmentation [A] (due to MSH, a by-product of increased ACTH production from pro-opiomelanocortin (POMC).
  • Characterized by Adrenal Atrophy and Absence of hormone production
    • Involves All 3 cortical divisions (spares medulla).
  • Distinguish from 2° adrenal insufficiency (decreased pituitary ACTH production), which has no skin/mucosal hyperpigmentation and no hyperkalemia.
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4
Q

Waterhouse- Friderichsen syndrome

A
  • Acute 1° adrenal insufficiency due to adrenal hemorrhage
  • Associated with Neisseria meningitidis septicemia, DIC, and endotoxic shock.
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5
Q

Neuroblastoma

  • Definition
  • Source
  • Most common presentation
  • Labs
A
  • Definition
    • The most common tumor of the adrenal medulla in children, usually < 4 years old.
  • Source
    • Originates from neural crest cells [A].
    • Occurs anywhere along the sympathetic chain.
  • Most common presentation
    • Abdominal distension
    • A firm, irregular mass [B] that can cross the midline (vs. Wilms tumor, which is smooth and unilateral).
    • Less likely to develop hypertension.
    • Associated with overexpression of N-myc oncogene.
  • Labs
    • Homovanillic acid (HVA), a breakdown product of dopamine, increased in urine.
    • Bombesin (+).
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6
Q

Pheochromocytoma (319)

  • Etiology
  • Symptoms
  • Findings
  • Treatment
A
  • Etiology
    • Most common tumor of the adrenal medulla in adults [A] [B].
    • Derived from chromaffin cells (arise from neural crest) [C].
    • Rule of 10’s:
      • 10% malignant –> 90% benign
      • 10% bilateral –> 90% unilateral
      • 10% extra-adrenal –> 90% in adrenal medulla
      • 10% calcify –> 90% don’t calcify
      • 10% kids –> 90% adults
  • Symptoms
    • Most tumors secrete epinephrine, norepinephrine, and dopamine, which can cause episodic hypertension.
    • Associated with von Hippel-Lindau disease, MEN 2A and 2B.
    • Symptoms occur in “spells”—relapse and remit.
    • Episodic hyperadrenergic symptoms (5 P’s):
      • Pressure (increased BP)
      • Pain (headache)
      • Perspiration
      • Palpitations (tachycardia)
      • Pallor
  • Findings
    • Urinary VMA (a breakdown product of norepinephrine and epinephrine) and plasma catecholamines are increased.
  • Treatment
    • Irreversible α-antagonists (phenoxybenzamine) and β-blockers followed by tumor resection.
    • α-blockade must be achieved before giving β-blockers to avoid a hypertensive crisis.
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7
Q

Hypothyroidism vs. hyperthyroidism

  • Signs / symptoms
    • Heat production
    • Weight / appetite
    • Activity
    • GI
    • Reflexes
    • Myxedema
    • Skin / hair
    • Cardio / pulm
  • Lab findings
    • TSH
    • T3 / T4
    • Cholesterolemia
A
  • Signs / symptoms
    • Heat production
      • Hypo: Cold intolerance (decreased heat production)
      • Hyper: Heat intolerance (increased heat production)
    • Weight / appetite
      • Hypo: Weight gain, decreased appetite
      • Hyper: Weight loss, increased appetite
    • Activity
      • Hypo: Hypoactivity, lethargy, fatigue, weakness
      • Hyper: Hyperactivity
    • GI
      • Hypo: Constipation
      • Hyper: Diarrhea
    • Reflexes
      • Hypo: decreased reflexes 
      • Hyper: increased reflexes
    • Myxedema
      • Hypo: Myxedema (facial/periorbital)
      • Hyper: Pretibial myxedema (Graves disease), periorbital edema
    • Skin / hair
      • Hypo: Dry, cool skin; coarse, brittle hair
      • Hyper: Warm, moist skin; fine hair
    • Cardio / pulm
      • Hypo: Bradycardia, dyspnea on exertion
      • Hyper: Chest pain, palpitations, arrhythmias, increased number and sensitivity of β-adrenergic receptors
  • Lab findings
    • TSH
      • Hypo: increased TSH (sensitive test for 1° hypothyroidism) 
      • Hyper: decreased TSH (if 1°)
    • T3 / T4
      • Hypo: decreased free T3 and T4 
      • Hyper: increased free or total T3 and T4
    • Cholesterolemia
      • Hypo: Hypercholesterolemia (due to decreased LDL receptor expression)
      • Hyper: Hypocholesterolemia (due to increased LDL receptor expression)
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8
Q

Hashimoto thyroiditis

  • Definition
  • Histologic findings
  • Findings
A
  • Definition
    • Most common cause of hypothyroidism in iodine-sufficient regions
    • An autoimmune disorder (anti-thyroid peroxidase, antithyroglobulin antibodies).
    • Associated with HLA-DR5.
    • Increased risk of non-Hodgkin lymphoma.
    • May be hyperthyroid early in course due to thyrotoxicosis during follicular rupture.
  • Histologic findings
    • Hürthle cells, lymphoid aggregate with germinal centers [A].
  • Findings
    • Moderately enlarged, nontender thyroid.
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9
Q

Congenital hypothyroidism (cretinism)

  • Definition
  • Findings
A
  • Definition
    • Severe fetal hypothyroidism due to maternal hypothyroidism, thyroid agenesis, thyroid dysgenesis (most common cause in U.S.), iodine deficiency, dyshormonogenic goiter.
  • Findings: 6 P’s [B] [C]
    • Pot-bellied
    • Pale
    • Puffy-faced child with Protruding umbilicus
    • Protuberant tongue
    • Poor brain development
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10
Q

Subacute thyroiditis (de Quervain)

  • Definition
  • Histology
  • Findings
A
  • Definition
    • Self-limited hypothyroidism often following a flu-like illness.
    • May be hyperthyroid early in course.
  • Histology
    • Granulomatous inflammation.
  • Findings
    • Increased ESR, jaw pain, early inflammation, very tender thyroid.
    • de Quervain** is associated with pain.**
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11
Q

Riedel thyroiditis

  • Definition
  • Findings
A
  • Definition
    • Form of hypothyroidism
    • Thyroid replaced by fibrous tissue (hypothyroid).
    • Fibrosis may extend to local structures (e.g., airway), mimicking anaplastic carcinoma.
    • Considered a manifestation of IgG4-related systemic disease.
  • Findings
    • Fixed, hard (rock-like), and painless goiter.
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12
Q

Causes of hypothyroidism

  • Most important
  • Other
A
  • Most important
    • Hashimoto thyroiditis
    • Congenital hypothyroidism (cretinism)
    • Subacute thyroiditis (de Quervain)
    • Riedel thyroiditis
  • Other
    • Iodine deficiency [D]
    • Goitrogens
    • Wolff-Chaikoff effect
    • Painless thyroiditis.
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13
Q

Toxic multinodular goiter

  • Definition
  • Jod-Basedow phenomenon
A
  • Definition
    • Hyperthyroid condition
    • Focal patches of hyperfunctioning follicular cells working independently of TSH due to mutation in TSH receptor [A]. 
    • Increased release of T3 and T4.
    • Hot nodules are rarely malignant.
  • Jod-Basedow phenomenon
    • Thyrotoxicosis if a patient with iodine deficiency goiter is made iodine replete.
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14
Q

Graves disease

  • Definition
  • Findings
A
  • Definition
    • Most common cause of hyperthyroidism.
    • Often presents during stress (e.g., childbirth).
  • Findings
    • Autoantibodies (IgG) stimulate TSH receptors on thyroid (hyperthyroidism, diffuse goiter)
    • Retro-orbital fibroblasts (exophthalmos: proptosis, extraocular muscle swelling [B])
    • Dermal fibroblasts (pretibial myxedema).
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15
Q

Thyroid storm

  • Definition
  • Findings
  • Treatment
A
  • Definition
    • Stress-induced catecholamine surge seen as a serious complication of Graves disease and other hyperthyroid disorders.
  • Findings
    • Presents with agitation, delirium, fever, diarrhea, coma, and tachyarrhythmia (cause of death).
    • May see increased ALP due to increased bone turnover.
  • Treatment: 3 P’s
    • β-blockers (e.g., Propranolol)
    • Propylthiouracil
    • Corticosteroids (e.g., Prednisolone).
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16
Q

Thyroid cancer (323)

  • Treatment
  • Complications of surgery
  • Papillary carcinoma
  • Follicular carcinoma
  • Medullary carcinoma
  • Undifferentiated / anaplastic carcinoma
  • Lymphoma
A
  • Treatment
    • Thyroidectomy is treatment option for thyroid cancers and hyperthyroidism.
  • Complications of surgery
    • Hoarseness (due to recurrent laryngeal nerve damage)
    • Hypocalcemia (due to removal of parathyroid glands)
    • Transection of inferior thyroid artery.
  • Papillary carcinoma
    • Most common, excellent prognosis.
    • Empty-appearing nuclei (“Orphan Annie” eyes) [A], psammoma bodies, nuclear grooves. 
    • Increased risk with RET and BRAF mutations, childhood irradiation.
  • Follicular carcinoma
    • Good prognosis
    • Invades thyroid capsule (unlike follicular adenoma)
    • Uniform follicles.
  • Medullary carcinoma
    • From parafollicular “C cells”
    • Produces calcitonin, sheets of cells in an amyloid stroma [B].
    • Associated with MEN 2A and 2B (RET mutations).
  • Undifferentiated / anaplastic carcinoma
    • Older patients
    • Invades local structures, very poor prognosis.
  • Lymphoma
    • Associated with Hashimoto thyroiditis.
17
Q

Primary hyperparathyroidism

  • Definition
  • Osteitis fibrosa cystica
A
  • Definition
    • Usually an adenoma.
    • Hypercalcemia, hypercalciuria (renal stones), hypophosphatemia, increased PTH, increased ALP, increased cAMP in urine.
    • Most often asymptomatic.
    • May present with weakness and constipation (“groans”), abdominal/flank pain (kidney stones, acute pancreatitis), depression (“psychiatric overtones”).
  • Osteitis fibrosa cystica
    • Cystic bone spaces filled with brown fibrous tissue [A] (bone pain).
  • “Stones, bones, groans, and psychiatric overtones.”
18
Q

Hyperparathyroidism

  • Secondary hyperparathyroidism
  • Tertiary hyperparathyroidism
  • Renal osteodystrophy
A
  • Secondary
    • 2° hyperplasia due to decreased gut Ca2+ absorption and increased PO43-, most often in chronic renal disease (causes hypovitaminosis D –> decreased Ca2+ absorption).
    • Hypocalcemia, hyperphosphatemia in chronic renal failure (vs. hypophosphatemia with most other causes), increased ALP, increased PTH.
  • Tertiary
    • Refractory (autonomous) hyperparathyroidism resulting from chronic renal disease. 
    • Really increased PTH, increased Ca2+.
  • Renal osteodystrophy
    • Bone lesions due to 2° or 3° hyperparathyroidism due in turn to renal disease.
19
Q

Hypoparathyroidism

  • Due to:
  • Findings
  • Chvostek sign
  • Trousseau sign
  • Pseudohypoparathyroidism (Albright hereditary osteodystrophy)
A
  • Due to:
    • Accidental surgical excision of parathyroid glands
    • Autoimmune destruction
    • DiGeorge syndrome.
  • Findings
    • Hypocalcemia, tetany.
  • Chvostek sign
    • Tapping of facial nerve (tap the Cheek) –>Ž contraction of facial muscles.
  • Trousseau sign
    • Occlusion of brachial artery with BP cuff (cuff the Triceps) –>Ž carpal spasm.
  • Pseudohypoparathyroidism (Albright hereditary osteodystrophy)
    • Autosomal dominant unresponsiveness of kidney to PTH.
    • Hypocalcemia, shortened 4th/5th digits, short stature.
20
Q

Pituitary adenoma

  • Definition
  • Nonfunctional vs. functional tumors
  • Treatment for prolactinoma
A
  • Definition
    • Most commonly prolactinoma (benign).
    • Adenoma [A] may be functional (hormone producing) or nonfunctional (silent).
  • Nonfunctional vs. functional tumors
    • Nonfunctional tumors present with mass effect (bitemporal hemianopia, hypopituitarism, headache).
    • Functional tumor presentation is based on the hormone produced (e.g., prolactinoma: amenorrhea, galactorrhea, low libido, infertility; somatotropic adenoma: acromegaly).
  • Treatment for prolactinoma
    • Dopamine agonists (bromocriptine or cabergoline). .
21
Q

Acromegaly

  • Definition
  • Findings
  • Diagnosis
  • Treatment
A
  • Definition
    • Excess GH in adults.
    • Typically caused by pituitary adenoma.
  • Findings
    • Large tongue with deep furrows, deep voice, large hands and feet, coarse facial features [A], impaired glucose tolerance (insulin resistance).
    • Increased GH in children Ž–> gigantism (increased linear bone growth).
    • Cardiac failure most common cause of death.
  • Diagnosis
    • Increased serum IGF-1
    • Failure to suppress serum GH following oral glucose tolerance test
    • Pituitary mass seen on brain MRI.
  • Treatment
    • Pituitary adenoma resection.
    • If not cured, treat with octreotide (somatostatin analog) or pegvisomant (growth hormone receptor antagonist).
22
Q

Diabetes insipidus

  • Definition
  • Nephrogenic DI
    • Etiology
    • Findings
    • Diagnosis
    • Treatment
A
  • Definition
    • Characterized by intense thirst and polyuria with inability to concentrate urine due to lack of ADH.
    • Has a central or nephrogenic cause.
  • Nephrogenic DI
    • Etiology
      • Hereditary (ADH receptor mutation)
      • 2° to hypercalcemia, lithium, demeclocycline (ADH antagonist)
    • Findings
      • Normal ADH levels
      • Urine specific gravity < 1.006
      • Serum osmolarity > 290 mOsm/L
      • Hyperosmotic volume contraction
    • Diagnosis
      • Water restriction test: no change in urine osmolarity
    • Treatment
      • HCTZ, indomethacin, amiloride
      • Hydration
23
Q

Diabetes insipidus

  • Central DI
    • Etiology
    • Findings
    • Diagnosis
    • Treatment
A
  • Central DI
    • Etiology
      • Pituitary tumor, autoimmune, trauma, surgery, ischemic encephalopathy, idiopathic
    • Findings
      • Decreased ADH
      • Urine specific gravity < 1.006
      • Serum osmolarity > 290 mOsm/L
      • Hyperosmotic volume contraction
    • Diagnosis
      • Water restriction test: > 50% increase in urine osmolarity
      • No water intake for 2–3 hr followed by hourly measurements of urine volume and osmolarity and plasma Na+ concentration and osmolarity.
      • DDAVP (ADH analog) is administered if normal values are not clearly reached.
    • Treatment
      • Intranasal DDAVP
      • Hydration
24
Q

SIADH

  • Definition
  • Causes include:
  • Treatment
A
  • Definition
    • Syndrome of inappropriate antidiuretic hormone secretion:
      • Excessive water retention
      • ƒƒHyponatremia with continued urinary Na+ excretion
      • Urine osmolarity > serum osmolarity
    • Body responds to water retention with decreased aldosterone (hyponatremia) to maintain near-normal volume status.
      • Very low serum sodium levels can lead to cerebral edema, seizures.
      • Correct slowly to prevent central pontine myelinolysis.
  • Causes include:
    • Ectopic ADH (small cell lung cancer)
    • CNS disorders/head trauma
    • Pulmonary disease
    • ƒƒDrugs (e.g., cyclophosphamide)
  • Treatment
    • Fluid restriction, IV hypertonic saline, conivaptan, tolvaptan, demeclocycline.
25
Q

Hypopituitarism

  • Definition
  • Due to:
  • Treatment
A
  • Definition
    • Undersecretion of pituitary hormones
  • Due to:
    • ƒƒNonsecreting pituitary adenoma, craniopharyngioma
    • Sheehan syndrome
      • Ischemic infarct of pituitary following postpartum bleeding
      • Usually presents with failure to lactate
    • Empty sella syndrome
      • Atrophy or compression of pituitary
      • Often idiopathic
      • Common in obese women
    • Brain injury, hemorrhage (pituitary apoplexy)
    • Radiation
  • Treatment:
    • Hormone replacement therapy (corticosteroids, thyroxine, sex steroids, human growth hormone).
26
Q

Diabetes mellitus

  • Acute manifestations
  • Chronic manifestations
    • Nonenzymatic glycosylation
      • Small vessel
      • Large vessel
    • Osmotic damage
  • Tests
A
  • Acute manifestations
    • Polydipsia, polyuria, polyphagia, weight loss, DKA (type 1), hyperosmolar coma (type 2).
    • Rarely, can be caused by unopposed secretion of GH and epinephrine.
  • Chronic manifestations
    • Nonenzymatic glycosylation:
      • Small vessel disease (diffuse thickening of basement membrane)
        • –> retinopathy (hemorrhage, exudates, microaneurysms, vessel proliferation) [A], glaucoma, nephropathy (nodular sclerosis, progressive proteinuria, chronic renal failure, arteriolosclerosis leading to hypertension, Kimmelstiel-Wilson nodules)
      • Large vessel atherosclerosis, CAD, peripheral vascular occlusive disease, and gangrene
        • –>Ž limb loss, cerebrovascular disease.
        • MI most common cause of death.
    • Osmotic damage
      • Sorbitol accumulation in organs with aldose reductase and decreased or absent sorbitol dehydrogenase
      • ƒƒNeuropathy (motor, sensory, and autonomic degeneration)
      • Cataracts
  • Tests
    • Fasting serum glucose, oral glucose tolerance test, HbA1c (reflects average blood glucose over prior 3 months).
27
Q

Type 1 vs. type 2 diabetes mellitus

  • 1° defect
  • Insulin necessary in treatment?
  • Age
  • Association with obesity?
  • Genetic predisposition
  • Association with HLA system?
  • Glucose intolerance
  • Insulin sensitivity
  • Ketoacidosis
  • β-cell numbers in the islets
  • Serum insulin level
  • Classic symptoms of polyuria, polydipsia, polyphagia, weight loss
  • Histology
A
  • 1° defect
    • 1: Autoimmune destruction of β cells
    • 2: Increased resistance to insulin, progressive pancreatic β-cell failure
  • Insulin necessary in treatment?
    • 1: Always
    • 2: Sometimes
  • Age (exceptions commonly occur)
    • 1: < 30 yr
    • 2: > 40 yr
  • Association with obesity?
    • 1: No
    • 2: Yes
  • Genetic predisposition
    • 1: Relatively weak (50% concordance in identical twins), polygenic
    • 2: Relatively strong (90% concordance in identical twins), polygenic
  • Association with HLA system?
    • 1: Yes (HLA-DR3 and 4)
    • 2: No
  • Glucose intolerance
    • 1: Severe
    • 2: Mild to moderate
  • Insulin sensitivity
    • 1: High
    • 2: Low
  • Ketoacidosis
    • 1: Common
    • 2: Rare
  • β-cell numbers in the islets
    • 1: Decreased
    • 2: Variable (with amyloid deposits)
  • Serum insulin level
    • 1: Decreased
    • 2: Variable
  • Classic symptoms of polyuria, polydipsia, polyphagia, weight loss
    • 1: Common
    • 2: Sometimes
  • Histology
    • 1: Islet leukocytic infiltrate
    • 2: Islet amyloid polypeptide (IAPP) deposits
28
Q

Diabetic ketoacidosis

  • Definition
  • Signs / symptoms
  • Labs
  • Complications
  • Treatment
A
  • Definition
    • One of the most important complications of diabetes (usually type 1).
    • Usually due to increased insulin requirements from increased stress (e.g., infection).
    • Excess fat breakdown and increased ketogenesis from increased free fatty acids, which are then made into ketone bodies (β-hydroxybutyrate > acetoacetate).
  • Signs / symptoms
    • Kussmaul respirations (rapid/deep breathing), nausea/vomiting, abdominal pain, psychosis/ delirium, dehydration.
    • Fruity breath odor (due to exhaled acetone).
  • Labs
    • Hyperglycemia, increased H+, decreased HCO3- (anion gap metabolic acidosis), increased blood ketone levels, leukocytosis.
    • Hyperkalemia, but depleted intracellular K+ due to transcellular shift from decreased insulin.
  • Complications
    • Life-threatening mucormycosis (usually caused by Rhizopus infection), cerebral edema, cardiac arrhythmias, heart failure.
  • Treatment
    • IV fluids, IV insulin, and K+ (to replete intracellular stores)
    • Glucose if necessary to prevent hypoglycemia.
29
Q

Insulinoma

  • Definition
  • Symptoms
  • Treatment
A
  • Definition
    • Tumor of β cells of pancreas Ž
      • –> overproduction of insulin Ž
      • –> hypoglycemia.
  • Symptoms
    • Whipple triad of episodic CNS symptoms: lethargy, syncope, and diplopia.
    • Symptomatic patients have decreased blood glucose and increased C-peptide levels (vs. exogenous insulin use).
  • Treatment
    • Surgical resection.
30
Q

Carcinoid syndrome

  • Definition
  • Caused by…
  • Symptoms
  • Labs
  • Treatment
A
  • Definition
    • Rare syndrome
    • Most common malignancy in the small intestine.
    • Not seen if tumor is limited to GI tract (5-HT undergoes first-pass metabolism in liver.
    • Rule of _1/3_s:
      • 1/3 metastasize
      • 1/3 present with 2nd malignancy
      • 1/3 are multiple
  • Caused by carcinoid tumors (neuroendocrine cells), especially metastatic small bowel tumors, which secrete high levels of serotonin (5-HT).
  • Symptoms
    • Recurrent diarrhea, cutaneous flushing, asthmatic wheezing, and right-sided valvular disease.
  • Labs
    • Increased 5-hydroxyindoleacetic acid (5-HIAA) in urine, niacin deficiency (pellagra).
  • Treatment
    • Resection, somatostatin analog (e.g., octreotide).
31
Q

Zollinger-Ellison syndrome

  • Definition
  • Symptoms
A
  • Definition
    • Gastrin-secreting tumor of pancreas or duodenum.
    • May be associated with MEN 1.
  • Symptoms
    • Acid hypersecretion causes recurrent ulcers in distal duodenum and jejunum.
    • Presents with abdominal pain (peptic ulcer disease, distal ulcers), diarrhea (malabsorption).
32
Q 
Multiple endocrine neoplasias:
MEN 1 (Wermer syndrome)
  • Characteristics
  • Comments
A
  • Characteristics
    • Parathyroid tumors
    • Pituitary tumors (prolactin or GH)
    • Pancreatic endocrine tumors—Zollinger-Ellison syndrome, insulinomas, VIPomas, glucagonomas (rare)
    • Commonly presents with kidney stones and stomach ulcers
  • Comments
    • All MEN syndromes have autosomal dominant inheritance.
      • “All MEN are dominant” (or so they think).
    • MEN 1 = 3 P’s
      • From cephalad to caudad: Pituitary, Parathyroid, and Pancreas
      • Remember by drawing a diamond
33
Q 
Multiple endocrine neoplasias:
MEN 2A (Sipple syndrome)
  • Characteristics
  • Comments
A
  • Characteristics
    • Medullary thyroid carcinoma (secretes calcitonin)
    • Pheochromocytoma
    • Parathyroid hyperplasia
    • Associated with ret gene mutation
  • Comments
    • All MEN syndromes have autosomal dominant inheritance.
      • “All MEN are dominant” (or so they think).
    • MEN 2A = 2 P’s
      • Parathyroids and Pheochromocytoma
      • Remember by drawing a square
34
Q

Multiple endocrine neoplasias:
MEN 2B

  • Characteristics
  • Comments
A
  • Characteristics
    • Medullary thyroid carcinoma (secretes calcitonin)
    • Pheochromocytoma
    • Oral/intestinal ganglioneuromatosis (mucosal neuromas).
    • Associated with marfanoid habitus.
    • Associated with ret gene mutation
  • Comments
    • All MEN syndromes have autosomal dominant inheritance.
      • “All MEN are dominant” (or so they think).
    • MEN 2B = 1 P
      • Pheochromocytoma
      • Remember by drawing a triangle

First Aid (92 decks)

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