Endo

Question 1

What are the two distinctive aspects to 11B-hydroxylase deficiency?

Answer 1

Virilization (XX child) and hypertension
NO salt wasting

Question 2

How do you tell 21-hydroxylase deficiency from 11-B-hydroxylase deficiency?

Answer 2

21 has salt wast, 11 b has hypertension

Question 3

What is the most common form of CAH?

Answer 3

21-hydroxylase deficiency

Question 4

How do boys typically present with 21-hydroxylase deficiency?

Answer 4

adrenal crisis at 2 weeks of life

Question 5

Is it more common in CAH to have salt-wasting or non-salt-wasting?

Answer 5

salt-wasting –> 21-hydroxylase deficiency and 3-B-Hydroxysteroid dehydrogenase

Question 6

Name lab findings in patients with salt-wasting disease.

Answer 6

low sodium and chloride, elevated potassium and BUN
High renin and inappropriately low aldosterone for the high renin

Question 7

What physical exam finding in male infants can help diagnose CAH?

Answer 7

small testes for degree of virilization

Question 8

What is treatment for CAH

Answer 8

hydrocortisone (glucocorticoids) inhibits androgens and progression of virilization
-if salt wasting - add fludrocort for mineralocorticoid effect

Question 9

What is the antibody in Graves disease

Answer 9

thyroid-stimulating immunoglobulin

Question 10

What antibody is positive in Chronic autoimmune thyroiditis?

Answer 10

thyroid peroxidase antibody and antithyroglobulin antibodies

Question 11

Primary adrenal insufficiency require replacement in what

Answer 11

glucocorticoid and mineralocorticoids

Question 12

What are presenting signs of adrenal crisis?

Answer 12

vomiting, hypotension, and weakness
labs - hypoglycemia, hyponatremia, and hyperkalemia

Question 13

What is treatment for adrenal crisis?

Answer 13

IV fluids with dextrose, stress dose steroids –> hydrocortisone 50-100 mg/m2

Question 14

Why do you not give fludrocortisone for adrenal crisis?

Answer 14

high dose hydrocortisone has mineralocorticoid effects

Question 15

At what age should you pursue work-up for premature onset of puberty?

Answer 15

boys <9 yo and girls <7-8 yo

Question 16

When is the ideal time to screen for congenital hypothyroidism?

Answer 16

Day 3 - peak of TSH at 12 HOL followed by peak of T4 and T3 at 24 HOL

Question 17

What is the difference between free T4 and T4 laboratory testing?

Answer 17

Total T4 measures free T4 plus thyroxine-binding globulin

Question 18

In what scenario might a baby have an abnormal T4 with normal TSH and normal free T4?

Answer 18

TBG deficiency

Question 19

When treating hyponatremia, what is the optimal change?

Answer 19

<10 mEq/L every 24 hours

Question 20

What is the risk of correcting hypernatremia too quickly?

Answer 20

Cerebral edema

Question 21

Treatment for hypophosphatemic rickets?

Answer 21

phosphorus and calcitriol - calcitriol used to maximize reabsorption of phosphorus

Question 22

What are clinical findings of growth hormone deficiency?

Answer 22

poor linear growth, decreased head circumference, prominent frontal bone, micropenis, delayed puberty

Question 23

What medication is indicated for increased albuminuria in poorly controlled diabetes?

Answer 23

ACEI or ARBs –> effect glomerular flow by dilation of efferent arteriole to reduce albumin excretion

Question 24

What is normal testicular volume?

Answer 24

12-19

Question 25

unilateral or bilateral cryptorchidism, unilateral renal agenesis, hyposmia/anosmia, syndactyly, cleft lip/palate –> What deficiency?

Answer 25

Congenital gonadotropin-releasing hormone

Question 26

What hgb A1c = diabetes?

Answer 26

6.5

Question 27

What fasting glucose = diabetes?

Answer 27

130 x2! a