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Flashcards in Endocrine Deck (14):
1

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

Hemochromatosis

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

Wilson disease

3

What does biliary obstruction lead to

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

4

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

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

5

MEN type2 is characterized by what?

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

6

Structures that arise from neural crest cells?

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

7

infant has cardiomyopathy, muscle weakness, hypotonia
what is the enzyme edeficiency?

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

8

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

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

9

What is the disorder
neonatal jaundice, vomiting, cataract formation, hepatomegaly, failure to thrive

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

10

Delayed puberty plus anosmia
and often delayed puberty

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

11

Accumulation of globoside ceramide trihexoside in tissues
early manifestations= angiokeratomas, hypohidrosis, acroparesthesia

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

12

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

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

13

congenital diphragmatic hernia would cause

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

14

what are the deposits of MPGN type 1

C1q