Endocrine

Question 1

What is associated with excessive intestinal absorption of iron and accumulation in parenchymal organs

Answer 1

Hemochromatosis

Question 2

Characterized by impaired incorporation of copper into ceruloplasmin & defective excretion of excess copper into bile
–> elevated blood free copper and deposition in liver & other organs

Answer 2

Wilson disease

Question 3

What does biliary obstruction lead to

Answer 3

altered lipid absorption and deficiencies of fat-soluble vitamins (A,D,E,K)

Question 4

Presents as mental status changes, muscle weakness, constipation, polyuria/polydipisia, dehydration

Answer 4

Sarcoidosis leading to hypercalcemia
activated macrophages in sarcoidosis & other granulomatos disease produces excess 1,25- dihydroxy vitamin D, which can cause hypercalcemia by increasing intestinal absorption of calcium & phosphate

Question 5

MEN type2 is characterized by what?

Answer 5

Pheochromocytomas
Medullary thyroid cancer (malignancy of parafollicular C cells)
Either parathyroid hyperplasia (MEN2A) or mucosal neuromas and marafanoid habitus (MEN 2B)

Question 6

Structures that arise from neural crest cells?

Answer 6

MOTEL PASS
melanocytes
odontoblasts
trachael cartilage
enterochromaffin cells
laryngeal cartilage
parafollicular cells of the thyroid
adrenal medulla and all ganglia
Schwann cells
Spiral membrane

Question 7

infant has cardiomyopathy, muscle weakness, hypotonia

what is the enzyme edeficiency?

Answer 7

Pompei disease

acid alpha- glucosidase (or acid maltase) deficiency causing glycogen storage disease type II

Question 8

patient becomes acutely symptomatic after ingesting fructose- containing foods and eventually develops liver failure

Answer 8

aldose b deficiency
inability to metabolize fructose phosphate( a toxic intermediate that accumulates in cells and depletes intracellular phosphate
treat by eliminating dietary phosphate

Question 9

What is the disorder

neonatal jaundice, vomiting, cataract formation, hepatomegaly, failure to thrive

Answer 9

galactosemia, AR disorder caused by galactose -1-phosphate uridyl transferase deficiency
treatment includes elimination of all milk products and feeding with soy based infant formula

Question 10

Delayed puberty plus anosmia

and often delayed puberty

Answer 10

Kallman syndrome
failure of GnRH secreting neurons to migrate from origin in olfactory placode (situated outside CNS) to anatomic locatio in hypothalamus

Question 11

Accumulation of globoside ceramide trihexoside in tissues

early manifestations= angiokeratomas, hypohidrosis, acroparesthesia

Answer 11

Fabry disease- inherited deficiency in alpha- galactosidase A
w/o enzyme replacement patients develop progressive renal failure

Question 12

infants with GI obstructions proximal to small bowel (esophageal or duodenal atresia)

Answer 12

can’t swallow amniotic fluid and would cause facial or lower limb deformities

Question 13

congenital diphragmatic hernia would cause

Answer 13

severe respiratory disease, pulmonary hypertension, and absent breath sounds unilaterally

Question 14

what are the deposits of MPGN type 1

Answer 14

C1q