quick reference terms

Question 1

congenital adrenal hyperplasia

Answer 1

21-hydroxylase deficiency, or other steroid hormone dyssynthesis problems. excess ACTH/MSH. SALT-WASTING. low aldosterone, hyperkalemia. hypotension, dehydration. virilization in females.

Question 2

acromegaly

Answer 2

shoe size and hat size, coarse facial features, kidney stones, HTN, erectile dysfunction (when associated with lactotrope). they can have goiter as well.

Question 3

DiGeorge syndrome

Answer 3

failure to develop the 3 and 4th pharyngeal pouches, thymus dysplasia, parathyroid dysplasia. hypocalcemia. congenital heart defects and dysmorphic facies. lack of T cells predisposes to infections, especially candida fungal.

Question 4

albright hereditary osteodystrophy

Answer 4

end-organ unresponsiveness to PTH. this causes low calcium and high PTH. mutations linked to failure of adenyl cyclase activation. inadequate reabsorption of calcium from the proximal.

Question 5

primary hyperparathyroidism

Answer 5

high calcium, high PTH, usually presents with kidney stone and renal colic. 85% caused by parathyroid adenoma. parathyroid adenoma is composed of chief cells.

Question 6

parathyroid adenoma

Answer 6

part of the MEN1 and MEN2A syndromes. chief cells of the parathyroid. accounts for 85% of primary hyperparathyroidism. secretes PTH

Question 7

secondary hyperparathyroidism

Answer 7

most likely caused by renal insufficiency. when all four glands are enlarged. diabetes is a reasonable cause.

Question 8

MEN gene mutations?

Answer 8

RET. MEN-1 (for MEN-1)

Question 9

MEN2A (sipple syndrome)

Answer 9

C-cell derived medullary thyroid carcinoma and chromatin cell pheochromocytoma. 33% have hyperparathyroidism as a results of adenoma or hyperplasia. hirsprung’s and gliomas are common -tumors of neural crest.

Question 10

what is RET

Answer 10

tyrosine kinase family.

Question 11

MEN-1

Answer 11

this is the three P’s parathyroid, pancreas, pituitary.

Question 12

zollinger-ellisin syndrome

Answer 12

associated with MEN-1 and pancreatic disease. represents gastrinoma of the endocrine pancreas. this causes excess gastrin secretion and peptic ulcer formation.

Question 13

cretinism

Answer 13

thyroid agenesis. secondary to congenital hypothyroidism. can be familial, endemic, sporadic. most common cause of cretinism is agenesis. sluggish, low temperature, large abdomen with umbilical herniation. refractory anemia. mental retardation and dwarfism if not corrected.

Question 14

papillary carcinoma of the thyroid

Answer 14

most common thyroid tumor. branching papillae lined by epithelial cells with clear, ground glass, orphan annie eyed nuclei and fibrovascular cores. psammoma bodies are usually present.

Question 15

reidel thyroiditis

Answer 15

soft tissue fibrosis. stony hard thyroid and described as woody. this is often asymmetric and only affects one lobe. there is typically a gradual onset of painless goiter and the thyroid becomes “adherent” to the underlying structures of the neck.

Question 16

folicular adenoma

Answer 16

benign neoplasm exhibiting follicular differentiation. most common tumor of the thyroid and presents as cold nodule in a euthyroid person.

Question 17

medullary thyroid carcinoma

Answer 17

derived from the c cells in the medullary thyroid. have nothing to do with thyroid function and are cold nodules. they do however play a role in calcium regulation because they secrete calcitonin and will have stromal amyloid present. eosinophilic material in the nodules. watery diarrhea caused by secretion of vast-active intestinal peptide.

Question 18

what bone disease does long term steroids cause?

Answer 18

osteoporosis. this is why people with cushing’s present with compression fractures.

Question 19

what does osteomalacia represent?

Answer 19

a malfunction of Vitamin D metabolism and features inadequate mineralization of new bone.

Question 20

renal dysplasia

Answer 20

undifferentiated tubules and primitive mesenchyme. cystic structures look like they obliterate the parenchyma. there is heterotrophic tissue such as smooth muscle and cartilage present.

Question 21

most likely place to find a solitary ectopic kidney?

Answer 21

in the pelvis, somewhere along the tract of development.

Question 22

characteristic deposits in post-infectious GN

Answer 22

there are subepithelial dense deposits that look like humps. they are invariably found with subendthelial or mesangial deposits.

Question 23

small cell carcinoma produces what type of glomerulonpehropathy>

Answer 23

membranous.

Question 24

what can pyelonephritis cause in the kidney>

Answer 24

papillary necrosis.

Question 25

henoch-shonlein purpura

Answer 25

this is an IgA nephropathy that causes a GN. with arthralgia and rash.

Question 26

what is the most common kidney tumor?

Answer 26

renal cell carcinoma 90%. VHL gene highly associated

Question 27

wilms tumor

Answer 27

most common in children. contains fetal elements blastema, immature mesenchyme and epithelial elements. sporadic and unilateral

Question 28

neuroblastoma

Answer 28

palpable mass with urine VMA

Question 29

where does renal cell carcinoma originate

Answer 29

from the renal tubules or ductal epithelial cells. composed of either cuboidal cells or solid nests.

Question 30

sickle cell patients are at risk for what renal disease

Answer 30

papillary necrosis

Question 31

what is a common cause of bladder diverticula?

Answer 31

prostatic hypertrophy. it holds urine in the bladder and causes infection

Question 32

urothelial cell carcinoma in situ

Answer 32

velvety red patches on the bladder wall.

Question 33

what is sarcoma boitryoides, how does it present?

Answer 33

this is an embryonal rhabdomyosarcoma. presents in children. edematous mucosal polyploid mass looks like a cluster of grapes.

Question 34

urethral caruncle

Answer 34

polypoid inflammatory lesion near the urothelial meatus. it produces pain and bleeding. biopsy will reveal inflammation, granulation tissue, and epithelial hyperplasia.

Question 35

what does schistomyosis do?

Answer 35

this is the cause of high rates of bladder cancer in egypt, sudan, etc. it causes squamous metaplasia of the bladder epithelium.

Question 36

in sexually active males what is the most common infection and how does it present?

Answer 36

N. gonorrhea. dysuria, urgency and urethral duscharge.

Question 37

what is balanitis

Answer 37

inflammation of the glans penis

Question 38

what is the most common complication of chronic balanitis?

Answer 38

phimosis

Question 39

yolk sac tumors

Answer 39

present as testicular masses with increased alpha fetal protein and schiller duval bodies

Question 40

cryptorchidism produces what common tumor and where does it mets?

Answer 40

seminoma and it mets to the perimetric lymph nodes.

Question 41

klinefelters

Answer 41

tall thin male, with 47, XXY. can present with gynecomastia and testicular atrophy is anticipated

Question 42

achondroplasia

Answer 42

fibroblast growth factor receptor mutation. most common form of dwarfism. failure of normal epiphyseal cartilage formation. there is arrest of the development of the growth plate

Question 43

why is 21-hydroxylase deficiency associated with short stature

Answer 43

because the deficiency leads to androgenital syndrome and premature closure of the epiphyseal growth plates.

Question 44

pseudoarthrosis

Answer 44

when a fracture doesn't heal properly due to soft tissue invasion, excessive movement, infection. the condition happens when there is joint like tissue formed

Question 45

osteopetrosis i

Answer 45

disease of osteoclasts. failure of the osteoclasts to resorb the bone. there is retention of the primary spongiosum, lack of funnelization of the metaphysis and a thickened cortex.

Question 46

osteomalacia

Answer 46

inadequate mineralization of the osteoid. vit d metabolism, phosphate deficiency or defects in the mineralization process itself.

Question 47

legg-perthes disease

Answer 47

osteonecrosis of the femoral head in children. collapse of the femoral head leads to joint incongruity and osteoarthritis.

Question 48

where does hemotogenous spread of osteomyelitis affect?

Answer 48

in the metaphysis of long bones. this is due to the unique avascular supply in that area.

Question 49

sequestrum

Answer 49

infections of the bone followed by septic invasion

Question 50

pagets disease

Answer 50

chronic disease characterized by lesions within the bone from disordered remodeling. there will be lytic lesions followed by disordered excessive bone formation. hallmark is a mosaic, jigsaw puzzle bone formation with prominent cement lines. english have a high incidence of the disease. hearing loss and risk of osteogenic sarcoma.

Question 51

tophus

Answer 51

urate crystal

Question 52

what is the pathogenesis of gout

Answer 52

impaired renal secretion of uric acid

Question 53

pseudogout

Answer 53

calcium phosphate dihydrate deposition in a "coffin-like" manner within the synovial membranes, joint cartilage and ligaments and tendons. principally a condition of age.

Question 54

juvenile arthritis

Answer 54

chronic arthritic condition with prominent systemic symptoms of fever, rash, hepatosplenomegaly, LAD, pleuritis, and anemia.

Question 55

what causes osteoporosis

Answer 55

increased osteoclast activity forms diffuse skeletal lesions in which the bone is decreased in mass and no longer gives necessary mechanical support.

Question 56

myositis ossificans

Answer 56

when there is trauma, typically a broken bone, and the muscle is ossified and reactive bone formation occurs in the muscle.

Question 57

osteoid osteoma

Answer 57

small, painful, benign lesion of bone composed of osseous tissue surrounded by a halo of reactive bone. tumor of the young, occurs in the cortex, pf trabecular bone of the lower extremities. reactive sclerotic bone surrounds the nidus

Question 58

lipoma

Answer 58

most common soft tissue tumor. well-differentiated adipocytes. benign and circumscribed.

Question 59

malignant fibrous histiocytoma is

Answer 59

a soft tissue tumor that contains foci of histocytic differentiation and is the most frequent sarcoma after radiation therapy. irregularly whorled pattern of spindle-shaped cells.

Question 60

synovial sarcoma

Answer 60

highly malignant soft tissue tumor that arises next to a joint space, occurs principally in adolescent and young adults as a painful or tender mass in the vicinity of a knee.

Question 61

endochondramatosis or ollier's disease

Answer 61

development of numerous cartilaginous masses that leads to bony deformities. it is residual hyaline cartilage, anlage cartilage, or cartilage from the growth plate that does not undergo ossification and remains in the bones.

Question 62

what bone disease does glucocorticoid therapy cause?

Answer 62

osteoporosis