Endocrine disease Flashcards
I. Normal Pituitary:
• Function
- the “master gland”
- regulates most other endocrine glands
- connected to hypothalamus via stalk which releases factors controlling release of trophic hormones
I. Normal Pituitary:
• Embryology
- anterior lobe derived from the primitive oral cavity (Rathke’s Pouch)
- posterior lobe derived from neuroectoderm
I. Normal Pituitary:
• Anatomy
- contained within the sella turcica of the sphenoid bone
- connected to hypothalamus via stalk → regulation of pituitary hormones
- anterior lobe is composed of round cells arranged in cords and nests
- posterior lobe: composed of modified glial cells and axonal processes extending from hypothalamic neurons
- Hypothalamic neurons produce oxytocin, antidiuretic hormone (ADH)
somatotroph
growth hormone (GH)
lactotroph
prolactin (PRL)
corticotroph
corticotropin (ACTH)
gonadotroph
Luteinizing hormone (LH) Follicle stimulating hormone (FSH)
thyrotroph
thyrotropin (TSH)
Anterior Lobe Pathology
A. Hyperfunction (hyperpituitarism)
o almost always associated with a pituitary adenoma
o may produce symptoms by hormone production or by local mass effect
• compression of optic nerve leading to visual disturbances
• increased intracranial pressure (headache, nausea, vomiting)
ACTH and other POMC-derived peptides
associated syndrome
Cushing syndrome
Nelson syndrome
GH
associated syndrome
Gigantism (children)
Acromegaly (adults)
Prolactin
associated syndrome
Galactorrhea and amenorrhea (females)
Sexual dysfunction, infertility
Prolactin & GH
associated syndrome
Combined features of prolactin and GH
excess
TSH
associated syndrome
Hyperthyroidism
FSH, LH
associated syndrome
Hypogonadism, mass effects and
hypopituitarism
POMC:
Pro-opiomelanocortin
B. Prolactinomas more noticeable in
women than in men; can grow to be very large in men before they are noticed.
C. With Growth Hormone adenomas, depends on when the
epiphyses closes. Patients with acromegaly will have a prognathic mandible, spacing of dentition, large sausage-like fingers, hypertension, and congestive heart failure.
B. Hypofunction (hypopituitarism)
• may manifest as a deficiency of one hormone or multiple hormones
Hypopituitarism: • causes:
o nonfunctional pituitary adenoma
o Ischemic necrosis, most commonly from Sheehan’s syndrome (postpartum infarct). Need over 75% of anterior lobe to be destroyed for clinically significant effects.
o Ablation of pituitary by surgery or radiation
o destruction by adjacent tumor
Hypopituitarism: • manifestations
o Pituitary dwarfism (GH) o Amenorrhea and infertility in women and decreased libido, impotence, and lack of pubic/axillary hair in men (gonadotropin) o No post-partum lactation (prolactin) o Hypothyroidism (TSH) o Hypoadrenalism (ACTH)
Posterior lobe pathology
• Oxytocin- no significant clinical abnormalities
• Antidiuretic hormone (ADH)
o Functions in kidneys to promote resorption of free water
o diabetes insipidus
Gigantism:
• Caused by an
adenoma in the anterior lobe that secretes growth hormone
Gigantism: • Occurs before
closure of the epiphyseal plates (growth plates) in the long bones
Gigantism: • Clinical features:
- Generalized increase in the size of the body
* Arms and legs are disproportionately long
Gigantism: • Treatment:
surgical removal of the adenoma
• Prognosis: fair to good
Acromegaly:
• Increased
growth hormone secretion (also due to an adenoma)
• After closure of the epiphyseal plates (skeletal maturity)
Acromegaly: • Clinical features:
- Enlarged bones of the hands, feet, and face
- Prognathism, development of a diastema
- Hypertension and congestive heart failure may be seen
Acromegaly: • Treatment:
same as gigantism (remove adenoma)
•
Acromegaly: Prognosis:
Guarded—due to complications of hypertension and congestive heart failure
c. Pituitary Dwarfism:
• Potential causes:
- Failure of pituitary gland to produce growth hormone
- Lack of response to growth hormone by the patient’s tissues
works
c. Pituitary Dwarfism: • Clinical features:
- Short stature
* Small jaws and teeth
c. Pituitary Dwarfism:
• Treatment:
if lack of production of growth hormone is the problem, then hormone replacement therapy
c. Pituitary Dwarfism: • Prognosis:
Good (if replacement therapy works)
I. Normal Thyroid: Function
o Produces hormones that regulate the rate at which the body carries out its necessary functions
I. Normal Thyroid
• Anatomy
o Located in the middle of the lower neck, below the larynx and above the clavicles
o “Bow tie” shape
I. Normal Thyroid
• embryology
o develops from an invagination of endoderm which arises at the base of the tongue, in the region of the foramen cecum
o migrates caudually to its location anterior and inferior to the thyroid cartilage
I. Normal Thyroid
• histology
o follicles filled with colloid and lined by cuboidal follicular cell
o small nests of C-cells scattered between the follicles; not visible without special stains
II. Hyperthyroidism
• Most common causes are
o Graves disease (Diffuse toxic hyperplasia) (#1 cause)
o ingestion of excessive exogenous thyroid hormone (TH)
o hyperfunctional multinodular goiter
o hyperfunctional thyroid adenoma
o TSH-secreting pituitary adenoma (Rare)
II. Hyperthyroidism
• Clinical manifestations-
Hypermetabolic state, Overactivity of the sympathetic nervous system
o Hypermobility (increased activity—can’t sit still)
o G-I hypermobility, malabsorption and diarrhea
o Tachycardia, palpitations, irritability
o Nervousness, tremor, irritability, proximal myopathy
o Wide, staring gaze with eyelid lag
o Exophthalmos (bulging of the eyes) with Graves’ disease
o Heat intolerance and excessive sweating
o Soft, warm, flushed skin
o Weight loss despite increased appetite
II. Hyperthyroidism:
o Thyroid Storm
- Abrupt onset of hyperthyroidism usually triggered by stress
- Patients can die of cardiac arrhythmia if untreated – A medical emergency
- Treatment: Depends on the cause. Reactive iodine can be used to destroy overactive thyroid tissue
- Prognosis: Good (If identified and treated properly)
II. Hyperthyroidism:
• Diagnosed by
elevated TH and decreased TSH (primary hyperthyroidism)
Graves’ Disease
• female predominance, F:M 7:1
o Common, 1.5-2% of US women
• hyperthyroidism; exophthalmos (40%); skin lesions
o pretibial myxedema, scaly thickening of skin overlying shins
• autoimmune, significant genetic component
o Autoantibodies to TSH receptor; constantly stimulated
Graves’ disease
• pathology
o diffuse enlargement of the thyroid on gross examination
o hyperplasia of follicles with lymphoid infiltrates
o Increase in serum free TH, decreased serum TSH
III. Hypothyroidism:
o Primary or secondary
III. Hypothyroidism:
o Common causes
o Ablation by surgery or radiation therapy
o Hashimoto thyroiditis (Autoimmune destruction)
o Iodine deficiency
III. Hypothyroidism:
o Clinical manifestations
Cretinism
o Myxedema
III. Hypothyroidism:
o Measure serum TSH
o Increased in primary due to loss of feedback inhibition
o Not increased in cases caused by primary hypothalamic or pituitary disease
III. Hypothyroidism: o Treatment:
Thyroid hormone replacement therapy (Synthroid)
Hypothyroidism: o Prognosis:
Good unless treatment is delayed. The damage to skeletal and nervous systems could be permanent
o Cretinism
- Develops in childhood
- Rare now due to iodine supplementation in diet
- Impaired development of skeleton and CNS
- Coarse facial features
- Short stature
- Severe mental retardation
- Protruding tongue
o Myxedema
- Develops in older children and adults
- Generalized apathy and mental sluggishness (mimics depression)
- Cold-intolerance, obese
- Coarse facial features, enlargement of tongue, deepening of voice, constipation, late cardiac effects
- Accumulation of mucopolysaccharide-rich edema
Hashimoto Thyroiditis
o female predominance, 10:1 to 20:1
o usually older women
o significant genetic component
o Most common cause of hypothyroidism where dietary iodine is sufficient
o Autoimmune; progressive destruction of parenchyma with inflammatory infiltrates
o Involves CD4+, CD8+, and NK cells
Hashimoto thyroiditis: o initially
euthyroid, with progression of disease most patients will become hypothyroid
o Painless thyroid enlargement with hypothyroidism
Hashimoto thyroiditis: o Some cases are preceded by
transient hyperthyroidism
Hashimoto thyroiditis: o Patients usually at risk for
other autoimmune diseases and B-cell Non-Hodgkin lymphomas
Hashimoto thyroiditis: o No established risk of
development of thyroid neoplasm
Goiters
• Most common manifestation of
thyroid disease
Goiters: • Diffuse and multinodular goiters reflect
impaired synthesis of thyroid hormone
Goiters: o Most often due to
dietary deficiency, though some cases are idiopathic
Goiters: o Impairment of
TH synthesis → increase in serum TSH → hypertrophy and hyperplasia of thyroid follicular cells → gross enlargement of gland
Goiters: • Most common clinical features are due to
mass effects o Cosmetic problem o Airway obstruction o Dysphagia o Compression of vessels
Goiters: • Hyperfuctional,
“toxic’ goiter
o In a minority of patients, the a “toxic” nodule may develop in a long-standing, non-toxic goiter
o Hyperthyroidism
Thyroid Neoplasms
o solitary thyroid nodules may be detected in
2-4% of the general population
Thyroid Neoplasms: o most nodules are
non-neoplastic disease (1% are carcinomas)
Thyroid Neoplasms: o Nodules in young patients are
more likely to be neoplastic
Thyroid Neoplasms: o Nodules in males are more likely to be
neoplastic
Thyroid Neoplasms: o genetic and environmental factors
o exposure to radiation in first 2 decades
Follicular Adenoma
o solitary nodules, 3-5 cm in diameter
o grossly separated from the normal thyroid by a thin, discrete capsule
o microscopically composed of follicles with varying amounts of colloid
0
Papillary Thyroid Carcinoma
o accounts for >85% of thyroid cancers
o 3rd-5th decade, F»M
o 60-70% are multifocal
o some cases related to radiation exposure
o Many have mutations in the RET proto-oncogene
Papillary thyroid carcinoma: o Pathology
o microscopically characterized by papillary projections
o distinctive nuclear changes
o nuclear clearing, aka “orphan annie nuclei”
o nuclear grooves
o nuclear inclusions
o nuclear enlargement
Papillary thyroid carcinoma: o Indolent lesions,
10-year survival rates >95%
o poor prognostic features include extrathyroidal extension and elderly
Follicular Carcinoma
o accounts for 5-15% of thyroid cancers
o Older age than papillary; areas with dietary iodine deficiency
o grossly may resemble an adenoma with a discrete capsule
o Must see invasion through the capsule or into the blood vessels
Anaplastic Thyroid Carcinoma
o Rare <5%; typically presents as rapid enlargement in a long standing goiter
o extremely poor prognosis
Medullary Thyroid Carcinoma
o uncommon, accounts for 5% of thyroid cancer
o derived from the parafollicular (C) cells
o may be sporadic or familial (component of MEN syndromes)
o All have mutation in the RET proto-oncogene
o Increased serum calcitonin
Parathyroid Glands
I. Normal
o embryology
o Derived from the third and fourth pharyngeal pouches
Parathyroid Glands
I. Normal
o anatomy
o typically 4 parathyroid glands, 1 at each corner of the posterior surface of the thyroid
Parathyroid Glands
I. Normal
o histology
o composed mostly of chief cells (principal cells, clear cells), secrete PTH
o oxyphil cells; unknown function
Parathyroid Glands
I. Normal
o PTH
o Decreased levels of free calcium in the bloodstream stimulate the synthesis and secretion of PTH, with the following effects
• Increase in renal tubular reabsorption of calcium
• Increase in urinary phosphate excretion
• Increase in the renal conversion of vitamin D into its active form, which in turn increases gastrointestinal calcium absorption
• Increase in osteoclastic activity which releases calcium from the bones
o Net effect: increase in the level of free calcium, which inhibits further PTH secretion
II. Hyperparathyroidism
• An important cause of
hypercalcemia
Hyperparathyroidism: • Excessive secretion of
parathyroid hormone (PTH)
Hyperparathyroidism:
• Two types
o Primary: an autonomous spontaneous overproduction of PTH
o Secondary: a secondary phenomenon in patients with chronic renal failure
Hyperparathyroidism: • Treatment:
Surgical removal of hyperplastic parathyroid glands. Kidney transplant may be beneficial in patients with hyperparathyroidism secondary to renal failure.
Hyperparathyroidism: • Prognosis:
Usually good
Primary hyperthyroidism:
o Common
endocrine disorder generally affecting adults
hyperparathyroidism
Primary hyperthyroidism:o Caused by
parathyroid adenomas or hyperplasia → hypercalcemia
o Clinical features
Primary hyperthyroidism:: o More common in
women (4:1); often clinically silent
Primary hyperthyroidism:: o Classic constellation of symptoms
o Currently, routine blood tests taken for other reasons often detect clinically silent
• Painful bones: Fractures associated with osteoporosis
• Renal stones
• Abdominal groans: Constipation, peptic ulcers, and gallstones
• Psychic moans: Refers to depression, lethargy and seizures
o Weakness and fatigue
o Brown tumor of hyperparathyroidism can develop in the jaws
o Ground glass appearance
o Metastatic calcifications
• Deposition of calcium in throughout body, including blood vessels
Secondary hyperthyroidism:
• Renal failure is most common cause
Secondary hyperthyroidism: o Decreased phosphate excretion
→ hyperphosphatemia → depresses serum calcium levels → stimulates parathyroid glands (which become hyperplastic)
Secondary hyperthyroidism: • Normally kidneys would increase
Vit D synthesis to increase Ca absorption in gut to compensate
• But because they aren’t working, there is decreased renal synthesis of Vitamin D and reduced intestinal absorption of calcium
Secondary hyperthyroidism:: • Symptoms are dominated by renal PTH sustains serum calcium
failure
Secondary hyperthyroidism: • Same manifestations as
primary HPT, but usually less severe
• Bone changes- renal osteodystrophy
Secondary hyperthyroidism: • Serum calcium remains
near normal because the compensatory increase in
III. Hypoparathyroidism
• Uncommon
• Etiology
o surgical removal of parathyroids (inadvertently during thyroidectomy or other neck dissection)
o congenital absence (DiGeorge’s syndrome)
o auto-immune disease
Hypoparathyroidism: • Clinical manifestations
o Hypocalcemia
o Increased neuromuscular excitability
o Cardiac arrhythmias
o Increased intracranial pressure and seizures
Normal Pancreas
• Embryology
o arises from endoderm of the foregut
Pancreas: • Histology
• Islets of Langerhans –clusters of endocrine cells interspersed among the acinar groups that make up the exocrine pancreas
Pancreas: • The pancreas has both
exocrine and endocrine functions. The exocrine pancreas makes gastric enzymes.
Pancreas: • Cell types:
cell type hormonal product beta insulin alpha glucagon delta somatostatin PP pancreatic polypeptide (VIP)
beta
insulin
alpha
glucagon
delta
somatostatin
PP
pancreatic polypeptide (VIP)
o Glucagon:
mobilizes carbohydrates (stored in the liver) into circulation when the body needs them. Promotes glycogenolysis and gluconeogenesis in fasting states.
o Insulin:
Major anabolic hormone, many synthetic and growth-promoting effects - allows glucose to be transported and stored in cells within the body after meals
o Somatostatin:
suppresses both insulin and glucagon release
o VIP: exerts
several G-I effects
• Normal Insulin Physiology & Glucose Homeostasis
Homeostasis depends on 3 processes:
o Gluconeogenesis
o Glucose uptake by tissues
o Actions of insulin & glucagon
=
Insulin increases the rate of
glucose transport into certain cells of the body
Diabetes Mellitus
• Group of metabolic disorders resulting in
hyperglycemia (excessive amounts of glucose in the blood) due to defects in insulin secretion, insulation action, or both
• In 2015, over 30 million Americans affected (7 % of population) with ¼ undiagnosed, with 84 million pre-diabetics
• Vasculopathy with long-term complications involving kidneys, eyes, nerves
• Leading cause of end-stage renal disease (ESRD), blindness, and amputation
Classification
• Type 1
(aka juvenile onset or insulin dependent diabetes mellitus)
o 5% of cases
o Severe insulin deficiency
• Type 2 (aka adult onset or non-insulin dependent)
o Caused by a combination of peripheral resistance to insulin action and an inadequate response to insulin secretion by the beta cells.
Presenting symptoms of DM
• Type 1
o Symptoms appear once 90% of beta cells have been destroyed, usually by age 20
o Polyuria
o Polydipsia
o Polyphagia with weight loss
o Ketoacidosis
• With fat as primary energy source: excess ketones in blood, low blood pH
• Can lead to diabetic coma
Presenting symptoms of DM
• Type 2
o Usually present after age 40, but not always
o Polyuria and polydipsia may occur
o Diagnosis usually made by routine blood or urine tests
o Enhanced susceptibility of infections, periodontal disease
Laboratory DM diagnosis
• Normal glucose is
70-120mg/dL
• Random blood glucose concentration of 200mg/dL or higher
DM diagnosis: • Fasting glucose greater than
126mg/dL on more than one occasion
• Blood glucose greater than 200mg/dL within 2 hours of ingesting 75g of glucose (oral glucose tolerance test)
Type 1 DM
- Absolute lack of insulin secondary to autoimmune destruction of beta cells
- Abrupt onset
- Patients require insulin from outside sources to survive or kidney/pancreas transplantation
- Prognosis is guarded due to many complications
Type 2 DM
• Results from a
collection of multiple genetic defects, each contributing its own predisposing risk and modified by environment.
• Peripheral tissues cannot respond properly to insulin (insulin resistance)
Type 2 DM: • Beta cell dysfunction results in
inadequate insulin secretion in the face of insulin resistance and hyperglycemia.
Type 2 DM: • Disposing factors
o Obesity
• 80% of Type 2 DM patients are obese
• 60% of the obese exhibit glucose intolerance
• Obesity in children is implicated in development of DM as adults
• Exercise and weight loss can reverse insulin resistance and clinical evidence of disease
o Pregnancy
o Stress
Type 2 DM: • Treatment:
Weight loss, improve diet, oral hypoglycemic drugs, insulin
Type 2 DM: • Prognosis is
fair. Patients have complications similar to those seen in Type I. However, the disease is usually not as severe. Type I patients are more likely to die of the disease than type II patients.
Manifestations of DM
• In pancreas
o Reduction of the number and size of islets
o Heavy inflammatory infiltrate
o Amyloid deposition
Manifestations of DM:
• Vasculopathy
o Responsible for 80% of DM-related deaths
o Atherosclerosis is severe and accelerated
o Myocardial infarction and stroke
o Gangrene of lower extremities is 100-fold increased over normal population
o Thickened basement membrane, especially around small blood vessels (microangiopathy)
Manifestations of DM: • Kidneys (diabetic nephropathy)
o 2nd leading cause behind vascular diseases, leads to HTN and ESRD
o Glomerular lesions
• Diffuse glomerulosclerosis
• 90% of diabetics within 10 years; not specific to diabetics
• Microangiopathy around glomerular capillaries and deposition of matrix
• Proteinuria, total renal failure
o Nodular glomerulosclerosis
• 15-30% of long-term diabetics; specific to diabetics
• Ball-like deposition of matrix at the periphery of the glomerulus
• Total renal failure
• Renal atherosclerosis
• Pyelonephritis
Manifestations of DM: • Eye (retinopathy)
o 4th leading cause of blindness
o Microangiopathy and microaneurysms
o Retinal detachment and vision loss
Manifestations of DM• Diabetic neuropathy
o Can affect the peripheral sensorimotor nerves
o Autonomic neuropathy causing disturbances in bowel and bladder function, impotence
Manifestations of DM: • Enhanced susceptibility to
infections of the skin, TB, pneumonia, deep fungal infections, pyelonephritis
Manifestations of DM: • Causes of death
o Type 1 > Type 2
o MI, renal failure, cerebrovascular disease, atherosclerosis, infection
III. Islet Cell Tumors
•
Uncommon (<2% of all pancreatic neoplasms)
• Most are from the exocrine pancreas
• may be functional or nonfunctional
• Insulinoma (Insulin Secreting Islet Cell Tumor)
• Beta cell tumor, hyperinsulinism, most are adenomas
• Hypoglycemia quickly occurs from fasting or exercise
• Many are asymptomatic, 5-10% malignant
• Nervousness, confusion, stupor
• Surgical excision
• Gastrinoma
Islet Cell tumors: • Arise in
duodenum, peripancreatic tissues, or pancreas
With Islet cell tumors, you see:
- gastric acid hypersecretion
* 90-95% of recalcitrant peptic ulcers
• Zollinger-Ellison Syndrome
- Pancreatic islet cell tumor, hypersecretion of gastric acid, severe peptic ulcers
- Most are malignant (60%), surgical resection
I. Normal adrenal glands:
• Two triangular-shaped glands located on top of the kidneys
• Adrenal Cortex (outer portion of the gland); weight: 4-5 grams; 3 zones
o zona glomerulosa – mineralcorticoids (aldosterone)
o zone fasciculata – glucocorticoids (cortisol)
o zona reticularis – sex hormones (estrogen/androgen)
• Adrenal Medulla (inner portion of the gland);: neural origin, chromaffin, source of catecholamines (epinephrine, norepinephrine and dopamine)
Hypercortisolism (Cushing Syndrome):
• Causes
o Most commonly by excess administration of exogenous glucocorticoids
o Primary adrenal hyperplasia or neoplasm (e.g. adrenal adenoma)
o Primary pituitary source
• ACTH oversecretion by pituitary microadenoma
• Known as Cushing disease
o Ectopic ACTH secretion by neoplasm, e.g. lung
Hypercortisolism (Cushing Syndrome):
• Signs and symptoms
o Short Term
- weight gain and hypertension
- “Moon facies” (accumulation of fat in the face)
- “Buffalo hump” (accumulation of fat in the posterior neck and back)
Hypercortisolism (Cushing Syndrome):
Signs and symptoms:
o Long Term
- Decreased muscle mass, weakness
- Diabetes
- Osteoporosis
- Cutaneous striae, hirsutism
- Mental disturbances: mood swings, depression, psychosis
- Menstrual irregularities
Hypercortisolism (Cushing Syndrome):
• Treatment:
depends on the cause
• Prognosis: good
Hyperaldosteronism
• Characterized by
chronic excess aldosterone secretion – causes:
o Sodium retention, Potassium excretion
o Hypertension and hypokalemia
Hyperaldosteronism: • Primary
o Very rare
o Hyperplasia, neoplasm, idiopathic
o Decreased levels of plasma renin
Hyperaldosteronism: • Secondary
o Aldosterone release in response to activation of renin-angiotensin system
o Increased levels of plasma renin
III. Hypoadrenalism
- Primary or
- Secondary
- Decreased stimulation of adrenals from deficiency of ACTH
Hypoadrenalism: • Don’t appear until at least
90% of adrenal gland has been destroyed
Hypoadrenalism:
• Manifestations
• Fatigue
• GI disturbances (anorexia, nausea, vomiting, weight loss, diarrhea)
- weakness
Acute Adrenocortical Insufficiency
•
In patients maintained on exogenous corticosteroids, rapid withdrawal of steroids or failure to increase steroids in response to an acute stress can precipitate an adrenal crisis
• Vomiting, abdominal pain, hypotension, coma, death
Acute Adrenocortical Insufficiency
• Can also be caused by adrenal hemorrhage or stress in a patient with existing Addison’s
Primary Chronic Adrenocortical Insufficiency (Addison’s Disease)
- Progressive destruction of adrenal cortex
- Serum ACTH may be elevated → skin and mucosal pigmentation
- Destruction of cortex prevents response to ACTH
- Potassium retention, sodium loss, hyperkalemia, hyponatremia, volume depletion, and hypotension
Primary Chronic Adrenocortical Insufficiency (Addison’s Disease)
• Causes
o Autoimmune destruction of steroid-producing cells
• Most common, 60-70% of cases
o TB
o AIDS
o Metastatic disease
• Clinical features
• Progressive weakness—easily fatigued
• GI disturbances: nausea, vomiting, anorexia, weight loss, diarrhea
• Hyperpigmentation—often involves the oral mucosa
• A craving for salt
Primary Chronic Adrenocortical Insufficiency (Addison’s Disease)
• Treatment:
Corticosteroid replacement therapy
Primary Chronic Adrenocortical Insufficiency (Addison’s Disease)
• Prognosis:
Guarded. Can result in death if not recognized and treated properly
Secondary Adrenocortical Insufficiency
• Any disorder of hypothalamus of pituitary that reduces output of ACTH
• Symptoms similar to Addison’s disease
o But no skin/mucosa pigmentation
Adrenal Neoplasms
- Pheochromocytoma
* Multiple Endocrine Neoplasia (MEN) Syndromes
• Pheochromocytoma
o neoplasm of
chromaffin cells, F > M, 30-60 yrs.
Chromaffin cells produce
epinephrine.
Pheochromoctyoma:
o Hypertension, tachycardia, tremor, headache
o Surgically correctible
o rule of 10’s: 10 % bilateral, extra-adrenal, malignant, familial syndromes
o large polygonal cells with variable pleomorphism
• Multiple Endocrine Neoplasia (MEN) Syndromes
• Types I, 2A, and 2B
• Tumors of multiple endocrine organs
o Medullary Thyroid Carcinoma
o Pheochromocytoma
o Parathyroid
o Pituitary
o Pancreas
• RET proto-oncogene• MEN 2B notable for early orofacial manifestations
o Mucosal neuromas (tongue, labial commisure)
o Large, blubbery lips
o Marfanoid body habitus
o Early onset medullary carcinoma of thyroid
