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Adrenal Glands

Congenital Adrenal Hyperplasia:


- or Adrenogenital syndrome
- characterized by decrease or absence of an enzyme necessary for the synthesis
of one or more of the
adrenal steroid hormones
- decreased cortisol increase in the plasma ACTH and hyperplasia of the
adrenal cortex
- most common enzyme deficiency is 21-hydroxylase
21-Hydroxylase deficiency:
- results in the accumulation of progesterone, 17-hydroxyprogesterone and 11,17
dehydroxyprogesterone
- autosomal recessive
- in mild cases, female: excess hirsutism (hairiness) and reduced breast
development, fails to
menstruate at puberty
- in severe cases, excess masculinization at birth with ambiguous genitalia and
hisutism
- hypotensive, decreased mineralocorticoids lose sodium and retain potassium
11-Hydroxylase deficiency:
- overproduction of 11-deoxycorticosterone (DOC) which is a potent sodium
retainer.
- hypertension, potassium depletion, increased extracellular volume and inhibition
of rennin
production
- lab findings: decreased cortisol and increased ACTH levels in serum; 17-KS and
decreased
aldosterone levels in urine
Adult Adrenogenital Syndrome
- caused by adrenal adenoma or carcinoma
- overproduction of androgens
- in female patient: development of masculine habitus with hirsutism, receding
hairline and clitoral
enlargement, menstruation and ovulation cease, breast and uterus atrophy
Hypercortisolism
Cushings Syndrome:
- complex of clinical signs and symptoms that result from exposure to high levels
of cortisol
- due to excessive production of ACTH such as what occurs when a basophilic
adenoma is present in
the pituitary gland
- physical symptoms: moon face, truncal obesity with a buffalo hump, occasionally
hirsutism
- hypertesnsion (increased mineralocorticoid secretion); menstrual disturbances
(increased adrenal
androgens), osteoporosis, emotional disorders
- lab findings: increased serum glucose, serum sodium and decreased potassium
Hypocortisolism
Primary Adrenal Insufficiency
Acute:
- life threatening disease that arises from a sudden decrease of cortisol

- destruction of adrenal cortex may be caused by trauma, hemorrhage,


thrombosis and infection; or
following surgery
- Waterhouse-Friderichsen syndrome due to meningococcal meningitis and
septicemia
- may be present with fever, headache, abdominal pain, hypotension and
cyanosis
- lab: elevated potassium, BUN, calcium and ACTH; decreased sodium, glucose
and cortisol
Chronic:
Addisons Disease:
- characterized as gradual decline of adrenal steroids (cortisol)
- autoimmune disease or idiopathic
- weakness and easy fatigability (may be due to hypoglycemia)
- nausea, vomiting, diarrhea and abdominal pain
- hyperpigmentation of the skin and mucous membrane (due to increased ACTH)
- hypotension (aldosterone deficiency, loss of sodium in urine), hyperkalemia
Secondary Adrenal Insufficiency:
- due to deficiency of ACTH from the pituitary
Hypoaldosteronism:
Primary Hypoaldosteronism:
- can be found in Addisons disease, bilateral adrenalectomy, adrenal hemorrhage
and 21-hydroxylase
deficiency
- plasma sodium concentration is low and high potassium level
- dehydration and hypotension
- kidney function is decreased resulting in an increased BUN and creatinine in the
plasma
Congenital Primary Hypoaldosteronism:
- rare genetic disease
- due to the absence of the enzyme methyloxidase that is required for the
synthesis of aldosterone
Secondary hypoaldesteronism:
- occur in patients with renal disease
- kidneys inability to produce and release rennin
- patients with severe diabetes
Hyperaldosteronism
Primary hyperaldosteronism or CONNs Disease:
- adrenal hyperplasia or adenoma
- develop benign hypertension, muscle weakness (potassium depletion), polyuria,
polydipsia
- Hypernatremia induces hypertension
- lab findings: increased serum sodium and urine aldosterone, decreased serum
potassium, low to
normal rennin concentration
Adrenal Medulla:
Pheochromocytoma:
- tumor of the adrenal chromaffin cells
- secrete large amount of epinephrine, norepinephrine or both
- hypertension (sustained or paroxysmal), sweating, tachycardia, headache
- catecholamines have a tendency to block insulin release, increase
gluconeogenesis and cause fatty
acid mobilization elevated serum glucose levels

- diagnosis: plasma epinephrine, norepinephrine, urinary metanephrine or VMA


Neuroblastoma:
- rare form of malignant tumor of cells that are neuron precursors found in infants
and children
- not found until after the tumor has metastasized to another site such as the liver
- secrete sporadic increases in catecholamine hormones
- transient hypertension, sweating, tachycardia and headache
- diagnosis: urinary measurement of VMA or HVA

Pancreas
Cystic Fibrosis:
- is a multisystem disease inherited as an autosomal recessive trait due to a
defective gene carried on
chromosome 7
- involves the transport of chloride with a failure to excrete sodium and water
- defective ion permeability leads to viscous epithelial secretions and obstruction
in the ducts of organs
such as the pancreas.
- concentration of chloride, bicarbonate and water low
- net effects: lack of pancreatic amylase and proteases, increased
monosaccharide absorption
- pancreatic lipase, colipase and phospholipase
- causes severe malabsorption and poor nutrition
- 2nd and 12th month of life
- present with malodorous steatorrhea and chronic pulmonary infection
- weakness, weight loss, deficient absorption of the fat soluble vitamins (ADE and
K)
- deficiency of vitamin K leads to bleeding abnormalities
- diagnosis of CF: confirmed or excluded by the sweat test (determination of
chloride concentration;
extremely reliable tool when performed correctly)
- Sweat Test:
- Pilocarpine stimulates sweating when introduced into the skin of the
flexor surface of the
forearm or thigh
- greater than 60 mmol/L consistent with the diagnosis of CF
- infant under 3 months of age, a sweat chloride of >40 mmol/L (highly
suggestive of CF)
- determined on two separate occasions
Endocrine Tumors:
Gastrinoma:
- consists of G cells that secrete gastrin, a potent stimulator of gastric acid by the
stomach
- causes Zollinger-Ellison syndrome (gastric hypersecretion, peptic ulceration,
elevated gastrin levels)
Glucagonoma:
- rare, characterized by migratory erythematous rash, hyperglycemia, anemia
and weight loss
- 80% reduction in plasma amino acids
Insulinoma:
- beta cell tumor leads to hypoglycemia

- often obese patient (they eat to remove the hypoglycemic symptoms)


Somatostatinoma:
- delta cell pancreatic tumor
- mild diabetes, gallstones, weight loss, diarrhea and steatorrhea
Vipomas:
- delta 1 cells
- cause a watery diarrhea leads to electrolyte disturbances like hypokalemia,
hypocalcemia,
hypomagnesemia and hypophosphatemia
- achlorhydria is also present
- WDHA syndrome
Multiple Endocrine Neoplasia:
- occurrence of tumors involving 2 or more endocrine glands within a single
patient
- MEN 1 or Wermers syndrome, MEN 2 or Sipples syndrome
- autosomal-dominant inherited or may occur sporadically
MEN 1:
- primary hyperparathyroidism, enteropancreatic neoplasia, pituitary neoplasia
and adrenal
hyperplasia
- hypercalcemia first to appear
- gastrinomas, insulinomas, prolactinomas
- Zollinger-Ellison syndrome: most common cause of morbidity and mortality in
MEN 1 patient
MEN 2:
- associated with medullary thyroid carcinoma, pheochromocytoma and
parathyroid tumors
Pancreatitis:
- present with epigastric or upper quadrant pain that radiates to the back,
stooping over relieves the
pain
Acute Pancreatitis:
- nausea and vomiting
- digestive enzymes are released, causing autodigestion of the organ
- biliary tract disease and alcoholism triggers the release of these enzymes
Chronic Panreatitis:
- characterized by irreversible morphologic change that leads to pain and
permanent loss of function
- common cause is alcoholism