Endocrine/Hepatology_UW

Question 1

Niemann Pick Disease and Tay Sachs disease PPT and difference

Answer 1

Both: onset 2-6 months. Hypotonia, loss of motor milestone, feeding difficultes, “cherry red” macula. Nieman Pick: AREFLEXIA AND HEPATOSPLENOMEGALY. Tay Sachs: Hyperrefelxia

Question 2

Pathology of Nieman Pick disease

Answer 2

Sphingomyelinase deficiency. Types A, B and C. A is the most severe.

Question 3

Pathology of Tay Sachs disease

Answer 3

Beta-hexosaminadase A deficiency.

Question 4

Epidemiology of Niemann Pick and Tay Saches

Answer 4

Ashkenazai Jewish and autosomal recessive.

Question 5

What is leukorrhea

Answer 5

Physiologic White vaginal discharge

Question 6

What effects does insulin have?

Answer 6

Increased glycogen synthesis, increased cellular uptake of potassium, phosphorus, magnesium and thiamine, increased protein synthesis.

Question 7

What is the pathophysiology of refeeding syndrome?

Answer 7

carb intake initiates increased insulin secretion, which leads to an anabolic state of increased glycogen synthesis, protein synthesis, intracellular uptake of potassium, magnesium, phosphorus and thiamine. Leads to decreased serum phosphorus, magnesium, thiamine, potassium. Increased sodium and water retention.

Question 8

Clinical manifestations of refeeding syndrome?

Answer 8

Arrythmia, heart failure (pulmonary edema, peripheral edema), seizures, Wernicke encephalopathy

Question 9

Precocious puberty is determined by advancing sexual characterisitcs by age?

Question 10

What is the most common cause of short stature and pubertal delay in adolescents?

Answer 10

Constitutional growth delay

Question 11

Constitutional growth delay is characterized by

Answer 11

Delayed bone age, delayed growth spurt and delayed puberty

Question 12

Infants born to women with Graves disease are at risk for

Answer 12

Neonatal thyrotoxicosis

Question 13

What is the patholophyioslogy of neonatal thyrotoxicosis

Answer 13

Maternal anti TSH R antibodies cross the placenta and stimulate the receptors

Question 14

Babies with neonatal thyrotoxicosis present with?

Answer 14

Irritability, tachycardia, poor weight gain

Question 15

Tx for neonatal thyrotoxicosis?

Answer 15

it will self resolve but can give methimazole and a beta blocker

Question 16

Congenital hypothyroidism presentation

Answer 16

Mostly asymptomatic but can show decreased activity, hoarse cry, jaundice,.

Question 17

What is the most common cause of congenital hypothyroidism

Answer 17

Thyroid dysgenesis

Question 18

Adrenarche is characterized by?

Answer 18

Caused by early activation of adrenal androgens. Pubarche, axillary hair, acne and body odor

Question 19

Which groups of children are at increased risk for precocious puberty?

Answer 19

Obese and black or Hispanic ethnicities

Question 20

What is the pathophysiology of precocious sexual development in obese kids?

Answer 20

Increased insulin secretion. Results in 1) adrenal androgen production which activates peripheral adrenarche 2) ovarian estrogen production which activates thelarche. Increased leptin secretion resulting in activationg of hypothalamus-pituitary-gonadal axis => increased LH and FSH => increased estrogen production from ovaries.

Question 21

What is the treatment for gonadotropin dependent precocious puberty?

Answer 21

GNRH agonist to promote growth velocity, prevents premature closure of the epiphyseal plates and maximize adult height potential.

Question 22

What treatment should newborns of mothers with active Hepatitis B get?

Answer 22

Hepatitis immune globin followed by hepatitis B vaccine. If they become infected, they have a 90% chance of progressing to chronic hepatitis B

Question 23

What is Reye Syndrome

Answer 23

Acute hepatic encephalopathy and noninflammatory fatty infiltration of the liver and kidney. Aspirin is a mitochondrial toxin. a/w aspirin ingestion after a viral illness