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Pathology > Endocrine pathology > Flashcards

Endocrine pathology Flashcards

1
Q

Prolactinoma

A
  • Most common pituitary tumor (30% of pituitary tumors) - functional benign tumor
  • Hyperprolactinemia
  • Staining - chromophobic
  • Wakly acidophilic cells
  • Distrofic calcification (small psammoma bodies)
  • Woman: amenorrhea and galactorrhea
  • Men: decreased libido and headache
  • Cause by hypothalamic lesions or by medications that interfere with dopamine (decrease in dopamine)
  • Can be associated with estrogen therapy
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2
Q

Somatotropic adenoma

A
  • Hypersecretion of growth hormone
  • Second most common pituitary tumor
  • Acidophilic staining - acidophilic or chromophobic cells
  • Causes secondary hyperproduction of somatomedins (IGF-1, insulin-like growth factor 1) by the liver
  • Childre: gigantism
  • Adults: acromegaly - overgrowth of heart, liver, jaws, face, hands and feet. Asymmetrical changes. “Sausage-like” fingers
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3
Q

Corticotropic adenoma

A
  • Hypersecretion of adrenocorticotropic hormone (ACTH)
  • Hypercorticism
  • Basophilic cells
  • This condition is called Cushing syndrome or Cushing disease
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4
Q

Cushing disease

A
  • Hypercorticism due to a corticotropic adenoma of the pituitary
  • Most often a basophilic adenoma
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5
Q

Cushing syndrome

A
  • Increased glucocorticoids, primarily cortisol
  • Causes: Exogenous corticosteroid medication (most common), hyperproduction of ACTH, adrenal cortical adenoma or adrenal carcinoma
  • Most often pituitary and less often adrenal origin
  • May also be caused by ectopic ACTH production by various tumors (esp. small cell carcinoma of lung)
  • Clinical: muscle weakness with thin extremities, moon facies, buffalo hump, truncal obesity, abdominal stria, HTN, osteoporosis
  • Dexamethasone suppression - useful diagnostic measures
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6
Q

Hypopituitarism

A
  • Pituitary cachexia - destruction of pituitary:
  • Caused by: Pituitary tumors, disease of hypothalamus, postpartum pituitary necrosis (Sheehan syndrome)
  • > 75% of anterior pituitary is lost
  • Adults: Pituitary adenoma
  • Children: craniopharyngioma
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7
Q

Syndrome of inappropriate ADH (SIADH)

A
  • Most commonly caused by ectopic production of ADH by various tumors (esp. small cell lung carcinoma)
  • Results in retention of water –> hyponatremia, reduced serum osmolality, cerebral edema, neurologic dysfunction, and inability to dilute the urine
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8
Q

Nephrogenic diabetes insipidus

A
  • Deficiency of ADH
  • Characterized by polyuria, with consequent dehydration and insatiable thirst
  • Causes: tumors, trauma, inflammatory processes, lipid starage disorders, and other conditions characterized by damage to the neurohypophysis or hypothalamus
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9
Q

Craniopharyngioma

A
  • Nonfunctioning pituitary tumor
  • Benign chilhood tumor derived from remnants of the Rathke pouch
  • Similar to ameloblastoma of the jaw
  • Nests and cords of squamous or columnar cells in a loose stroma
  • Often cystic
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10
Q

Empty sella syndrome

A
  • Pituitary hypofunction - pituitary gland is destroyed, sella turcica is enlarged
  • Caused by conditions that destroy all or part of the pituitary: Hernia of sella diaphragm, removed mass (adenoma) or spontaneous necrosis of adenoma
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11
Q

Nelson syndrome

A
  • Pituitary hypofunction
  • Development of large pituitary adenomas following bilateral adrenalectomy
  • Due to loss of feedback inhibition on growth of preexisting pituitary microadenomas
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12
Q

Thyroglossal duct cyst

A
  • Most common thyroid anomaly
  • Cystic dilation of thyroglossal duct remnant
  • Presents as anterior neck mass
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13
Q

Ectopic thyroid tissue

A
  • May be found anywhere along the course of the thyroglossal duct
  • Lingual thyroid: Thyroid tissue at base of tongue
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14
Q

Myxedema

A
  • Hypothyroidism in adults
  • Causes: Therapy for hyperthyroidism with surgery, irradiation, or drugs; Hashimoto thyroiditis; idiopathic; iodine deficiency
  • Clinical: Insidious onset, cold intolerance, weight gain despite normal appetite, mental and physical slowness, menorrhagia, constipation, puffiness of face, eyelids and hands, dry skin, hair loss
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15
Q

Cretinism

A
  • Hypothyroidism in infancy or early childhood
  • Causes: Iodine deficiency, deficiency of enzymes, maternal hypothyroidism, thyroid agenesis
  • Clinical: Severe mental retardation, short stature with skeletal abnormalities, large tongue, umbilical hernia, coarse facial features
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16
Q

Graves disease

A
  • Most common cause of hyperthyroidism
  • Occurs more frequently in women than in men
  • Increased incidence in HLA-DR3 and HLA-B8 positive individuals
  • Cause: Autoantibody; TSI (thyroid-stimulation Ig) - (IgG) reacts with TSH receptors and stimulates TH production. TGSI (thyroid growth-stimulation Ig)
  • Clinical: hyperthyroidism, diffuse goiter (enlarged thyroid), exophthalmos/ophthalmopathy (protrusion of the eyes), and pretibial myxedema
  • Risk for other autoimmune diseases: lupus erythematous, pernicious anemia, type 1 DM, Addison disease
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17
Q

Plummer disease

A
  • Combination of hyperthyroidism, nodular goiter, and absence of exophthalmos
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18
Q

Hashimoto thyroiditis

A
  • Autoimmune disorder
  • 90-95% in women
  • Most common cause of hypothyroidism (may initially present with hyperthyroidism) in iodine-sufficient areas. Most common cause of non endemic goiter in children
  • Massive infiltrates of lymphocytes with germinal center formation
  • Associated with various autoantibodies; antithyroglobulin, antithyroid peroxidase, anti-TSH receptor, and anti-iodine receptor antibodies
  • May coexist with MALT lymphomas of GI tract, other B cell lymphomas
  • Increased incidence in HLA-DR5 and HLA-B5 positive individuals
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19
Q

Subacute (de Quervain, granulomatous) thyroiditis

A
  • Focal destruction of thyroid tissue and granulomatous inflammation
  • Most common cause of thyroid pain
  • Causes: viral infections such as measles, mumps, adenovirus, upper respiratory infection, influenza, or coxsackievirus
  • Damage by lymphocytes T
  • Self-limited course of several weeks’ duration consisting of flu-like illness along with pain and tenderness of the thyroid, may present with hyperthyroidism
20
Q

Riedel thyroiditis

A
  • Chronic inflammation - thyroid replacement by fibrous tissue
  • Unknown etiology
  • Presents as hypothyroidism with “hard as wood”, contender thyroid gland
21
Q

Thyroid benign tumors

A
  • Most often solitary
  • Present clinically as nodules, cold nodule
  • Most often nonfunctional, can cause hyperthyroidism
  • Folicullar adenoma - proliferation of follicles surrounded by a fibrous capsule, nonfunctional, not forerunner to carcinoma
  • Hürthle cell
22
Q

Papillary carcinoma (Thyroid)

A
  • Most common thyroid cancer (85%)
  • Papillary projections into gland-like spaces; tumor cells have characteristic “ground-glass” (“Orphan Annie”) nuclei
  • Risk factors: ionizing radiation, post-Chernobyl, Hashimoto’s thyriditis, FAP
  • Better prognosis than other forms of thyroid cancer; even though it often spreads to cervical nodes - 20 year survival is 90%
  • Can be associated with changes in chromosome 10, or translocation between chromosome 10 and 17
  • Mutations in B-type ras kinase (BRAF) are also common
23
Q

Follicular carcinoma (Thyroid)

A
  • 15% of thyroid carcinomas
  • Malignant proliferation of follicles
  • Surrounded by a fibrous capsule with invasion through capsule (‘invasion’ differentiate carcinoma from adenoma)
  • Usually solitary and “cold” on radionuclide scan
  • Risk factors: radiation exposure, iodine deficiency, older age
  • Metastasis –> generally occurs hematogenously (via veins), to lungs, liver, bone, brain
24
Q

Medullary carcinoma (Thyroid)

A
  • 5% of thyroid carcinomas
  • Malignant proliferation of parafollicular C cells of neural crest
  • Produces calcitonin, a calcium-lowering hormone –> may produce hypocalcemia
  • Sheets of tumor cells in an amyloid-containing stroma
  • Most are sporadic (80%)
  • Familial; Can be associated with MEN syndrome IIa and IIb in 20% of cases
  • Associated with RET mutations
  • 5 year survival: 86%
25
Q

Anaplastic carcinoma (Thyroid)

A
  • Undifferentiated malignant tumor of thyroid
  • Usually seen in elderly
  • 50% have prior multinodular goiter
  • Arises as transformation of cancer
  • Often invades local structures leading to dysphagia or respiratory compromise
  • Poor prognosis
26
Q

Primary hyperparathyroidism

A
  • Most often due to parathyroid adenoma (>80% of cases)
  • Other causes: parathyroid hyperplasia, production of PTH-like hormone by nonparathyroid malignant tumors
  • Can occur as a part of MEN I and MEN IIa
  • Lab: Hypercalcemia and hypercalciuria, decreased serum phosphorus, increased serum alkaline phosphatase, increased serum PTH
  • Clinical/consequences: Osteitis fibrosa cystica, nephrocalcinosis, renal calculi, peptic duodenal ulcer, CNS disturbances, constipation, actue pancreatitis
27
Q

Secondary hyperparathyroidism

A
  • Parathyroid hyperplasia occurs in response to decreased concentration of serum ionized calcium
  • Most common cause is chronic renal failure –> decreased intestinal absorption of calcium, and increased serum phosphorus causes reciprocal decrease in serum calcium
  • Decreased serum calcium, increased serum phosphorus, increased serum alkaline phosphatase, and increased PTH.
28
Q

Hypoparathyroidism

A
  • Most common caused by accidental surgical excision during thyroidectomy
  • May also be associated with DiGeorge syndrome
  • Present with numbness and tingling, muscle spasm (tetany), decreased PTH and decreased serum calcium
29
Q

Pseudohypoparathyroidism

A
  • Multihormone resistance involving PTH, TSH, luteinizing hormone, and FSH.
  • End-organ unresponsiveness of the kidney to PTH
  • Shortened forth and fifth metacarpals and metatarsals, short stature, and other skeletal abnormalities
30
Q

Hyperaldosteronism

A
  • Excess aldosterone
  • Clinical: hypernatremia, hypokalemia, metabolic alkalosis, HTN
  • Primary: Most commonly (80%) due to adrenal adenoma. High aldosterone and low renin
  • Secondary: Renal ischemia, renal tumors, or edema –> activation of renin-angiotensin system. High aldosterone and high renin
31
Q

Adrenal virilism

A
  • Excess sex-steroids with hyperplasia of both adrenal glands
  • Causes:
  • Congenital enzyme defects lead to diminished cortisol production and compensatory increased ACTH
    1) 21-hydroxylase deficiency is most common (90%)
    2) 11- hydroxylase deficiency
  • Tumors and the adrenal cortex
    1) Adrenocortical adenomas
    2) Adrenocortical carcinomas
  • Clinical: salt wasting with hyponatremia, hyperkalemia, hypovolemia
32
Q

Addison disease

A
  • Hypocorticism (chronic adrenocortical indufficiency)
  • Most commonly due to idiopathic adrenal atrophy
  • Can also be caused by tuberculosis, metastatic tumor, and various infections
  • More than 90% of cortex destructed
  • Clinical: Hypotension, increased pigmentation of skin; hyponatremia; decreased chloride, glucose, and bicarbonate; hyperkalemia; weakness, nausea, vomiting, diarrhea
33
Q

Waterhouse-Friderichsen syndrome

A
  • Acute adrenal insufficiency and vascular collapse - hypotension leading to shock
  • Due to hemorrhagic necrosis of the adrenal cortex
  • Often associated with disseminated intravascular coagulation
  • Characteristically due to meningococcemia, often in association with meningococcal meningitis
34
Q

Pheochromocytoma

A
  • Tumor derived from chromaffin cells of the adrenal medulla - chromaffin cells clustered in small nests (“Zellballen”)
  • Most often benign
  • Clinical: episodic HTN (result from hyper production of catecholamines), headaches, palpitations, tachycardia, and sweating
  • Increased urinary excretion of catecholamines and their metabolites - metanephrine, normetanephrine, and vanillylmandelic acid
  • Associated with MEN IIa and IIb, von Hippel-Lindau disease, and neurofibromatosis type I
  • Rules of 10s –> 10% bilateral, 10% familial, 10% malignant, 10% located outside of adrenal medulla (bladder wall), 10% without HTN, 10% in children
35
Q

Neuroblastoma (Adrenal)

A
  • Highly malignant catecholamine-producing tumor (Pheochromocytoma in children)
  • Occur in early childhood - most common solid tumor in children before age 1
  • Comprised of small round blue cells which form characteristic rosette-like structures
  • Urinary catecholamines and their metabolites are same as in pheochromocytoma
  • Rarely causes HTN
  • Often presents as a large abdominal mass
  • Characterized by amplification of the N-myc oncogene
36
Q

Type 1 Diabetes mellitus

A
  • Often begins early in life
  • Less common than type 2 DM
  • Due to failure of insulin synthesis by beta cells of the pancreatic islets
  • May be a genetic predisposition complicated by autoimmune inflammation of islets triggered by a viral infection or environmental factors
  • Incidence increased in individuals with point mutation in the HLA-DQ gene; and in HLA-DR3 and HLA-DR4 positive individuals
  • Hyperglycemia, leading to polyuria, polydipsia, wight loss despite increased appetite, ketoacidosis, coma, and death
37
Q

Type 2 Diabetes mellitus

A
  • Much more common than type 1 DM
  • Begins most often in middle-age
  • Positive family history is more frequent than in type 1 DM
  • Due to increased insulin resistance
  • May also be associated with impaired processing of proinsulin to insulin, decreased sensing of glucose by beta cells, or impaired function of intracellular carrier proteins
  • Most often associated with mild to moderate obesity
  • Ketoacidosis is unusual
38
Q

Maturity-onset diabetes mellitus of the young (MODY)

A
  • Autosomal dominant syndrome
  • Characterized by mild hyperglycemia and hyposecretion of insulin but no loss of beta cells
  • Earlier onset than type 2 DM
  • Caused by a diverse group of single gene defects
39
Q

Hereditary hemochromatosis

A
  • Secondary DM
  • Characteristics include excess iron absorption and parenchymal deposition of hemosiderin, with reactive fibrosis in various organs (esp. pancreas, liver, and heart)
40
Q

Pancreatitis

A
  • Characterized by hyperglycemia

- Chronic pancreatitis may result in islet cell destruction and secondary DM

41
Q

Insulinoma

A
  • Most common islet cell tumor
  • Can be benign or malignant
  • Characterized by greatly increased secretion of insulin
  • Increase in circulating C-peptide
  • Whipple triad: Episodic hyperinsulinemia and hypoglycemia, CNS dysfunction, and dramatic reversal of CNS abnormalities by glucose administration
42
Q

Gastrinoma

A
  • Often malignant and sometimes occur in extrapancreatic sites
  • Gastrin hypersecretion and hypergastrinemia
  • Associated with the Zollinger-Ellison syndrome
43
Q

Glucagonoma

A
  • Rare tumor
  • Endocrine tumor that results in secondary DM
  • Causes a characteristic skin lesion called necrolytic migratory erythema
44
Q

VIPoma

A
  • Rare tumor
  • Endocrine tumor marked by secretion of vasoactive intestinal peptide (VIP)
  • Associated with WDHA syndrome: Watery Diarrhea, Hypokalemia, and Achlorhydria
45
Q

MEN I (Wermer syndrome)

A
  • Hyperplasias or tumors of (3Ps):
  • Pituitary gland - (prolactinoma)
  • Parathyroid - (hyperparathyroidism)
  • Pancreatic islets - (gastrinoma, insulinoma)
  • May also cause hyperplasias or tumors of the thyroid or adrenal cortex
  • Mutations in MEN I gene
  • Clinical: Hypoglycemia, peptic ulcers, nephrolithiasis, prolactism
46
Q

MEN IIa (Sipple syndrome)

A
  • Include:
  • Pheochromocytoma
  • Medullary carcinoma of the thyroid
  • Hyperparathyroidism
  • Mutations in the RET oncogene
47
Q

MEN IIb (MEN III)

A
  • Includes:
  • Pheochromocytoma
  • Medullary carcinoma of thyroid
  • Multiple mucocutaneous neuromas or ganglioneuromas
  • Linked to different mutations in the RET oncogene compared with MEN IIa

Pathology (9 decks)

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