Endocrine

Question 1

Hyperinsulinism Diagnostic criteria

Answer 1

Insulin level >2 mIU/mL
B-hydroxybutyrate level <1.8 mmol/L
Free Fatty acid level <1.7 mmol/L
Glucose rise >30 mg/dL after glucagon admin

Question 2

PKU

Answer 2

most common inborn error of amino acid metabolism is PKU; an autosomal recessive disorder from dificiency of phenylalanine hydroxylase, required to convert phenylalanine to tyrosine
tyrosine required for dopamine synthesis

Question 3

Serum Calcium

Answer 3

regulated by parathyroid horomone and 1,23 dihydroxyvitamin D (calcitrol) which increases serum Calcium and by calcitonin, which decreases it

Question 4

Effect of alkalosis on ionized calcium

Answer 4

alkalosis decreases iCal levels by increasing albumin’s affinity for calcium

Question 5

parathyroid gland secretes __________ which ____________________ calcium and phosphorous from _______________.

Answer 5

parathyroid gland secretes PTH which mobilized calcium and phosphorous from Bone and stimulates reabsorption in kidneys

Question 6

The thyroid secretes _____________ in response to elevated Calcium levels, which _______________ renal secretion

Answer 6

thyroid secretes calcitonin in response to elevated calcium, which increases renal secretion.

Question 7

Early hypocalcemia causes (day 1-3)

Answer 7

IDM, asphyxia, IUGR, prematurity

Question 8

Late hypocalcemia (day 3-5)

Answer 8

r/t high phosphate load, maternal vitamin D deficiency, congenital hypoparathyroidism, DiGeorge, Maternal Hyperparathyroidism

Question 9

Hypercalcemia causes

Answer 9

Mutations with hyperparathyroidism, Williams syndrome, subcutaneous fat necrosis, increase intake of calcium or vitamin D, or decreased phos intake

Question 10

Hypomagnesia

Answer 10

uncommon but may be associated with hypocalcemia

Question 11

Common cause of hyperphosphatemia

Answer 11

usually r/t hypocalcemia

Question 12

Thyroid embryogenesis usually complete by

Answer 12

10-12 weeks

Question 13

Maternal TSH ________ cross placenta, but Maternal TRH __________.

Answer 13

Maternal TSH - doesnt cross; TRH does

Question 14

Thyrotropin

Answer 14

stimulates thyroid to release T4 which is converted to T3 to stimulate metabolism

Question 15

Congenital hypothyroidism (causes)

Answer 15

thyroid dysgensis, maternal antithyroid meds, inborn errors or thyroid hormone synthesis, or iodine deficiency (cretinism)

Question 16

Symptoms of Congenital Hypothyroidism

Answer 16

constipation, hypothermia, poor tone, prolonged jaundice, Large Toungue, large anterior or posterior fontanelle, periorbital edema, hoarse cry, goiter

Question 17

The most preventable cause of intellectual disability

Answer 17

Congenital Hypothyroidism

Question 18

Hyperthyroidism causes

Answer 18

rare, but most are born to mothers with graves disease, which results in transplacental transfer of TSH-receptor antibodies

Question 19

Symptoms of hyperthyroidism

Answer 19

prematurity, IUGR, tremors, poor weight gain, weight loss, exopthalmos, craniosynostosis, SVT, poor growth

Question 20

Cushing’s

Answer 20

an excess of cortisol from tumor

Question 21

Addison’s disease

Answer 21

primary adrenal insufficiency

Question 22

Congenital Adrenal Hyperplasia

Answer 22

a defect in one of the hormones that is responsible for converting cholesterol to cortisol leading to increased levels of ACTH and decreased levels of cortisol

Question 23

CAH most common type

Answer 23

21-hydroxylase enzyme deficiency

Question 24

CAH in females

Answer 24

results in overproduction of androgens prior to enzyme block which results in overvirulization of external female genitalia but normal internal organs - ambiguous male appearing genitalia

Question 25

CAH in males

Answer 25

Increased androgens are insignificant so they have normal appearing genitalia

Question 26

CAH in severe form leads to ___________ and ___________

Answer 26

hypoaldosteronism - renal salt wasting and impaired potassium and H+ excretion leading to hyponatremia, hyperkalemia, and metabolic acidosis
hypocortisolemia - cardio, metabolic, and other system impairments including the renin-angiotensin axis leading to hypoglycemia and SHOCK

Question 27

“stale, mousy odor”

Answer 27

PKU

Question 28

“rancid, sulfur smells, cabbage smell”

Answer 28

Tyrosinemia

Question 29

Urea Cycle Disorder presentation

Answer 29

Respiratory Alkalosis, Hyperammonemia

Question 30

Organic Acidemias (methylmalonic acidemia, propionic acidemia, ect.)

Answer 30

Metabolic Acidosis with high anion gap, hyperammonemia, Inappropriately high urine ketones

Question 31

Aminoacidopathies (PKU, tyrosonemia ect)

Answer 31

Normal acid base status, HIGH ketones

Question 32

Disorders of carb metabolism (galactosemia, ect)

Answer 32

Hypoglycemia, + Ketones

Question 33

Lipid Defects (carnitine dificiency, Medium Chain Acyl CoA Dehydrogenase)

Answer 33

hypoglycemia, LOW ketones

Question 34

Mitochondrial Disorders

Answer 34

Lactic Acidosis, Ketones