peds16

Question 1

mixed gonadal dysgenesis

Answer 1

karyotype with 45XO/46XY mosaicism; ambig genitalia (usually); testes on one side and streak gonad on the other; fallop tubes may be present bilat

Question 2

true hermaphroditism

Answer 2

ambig genitalia; both ovarian and testicular gonadal tissue; usually 46xx but can be 46xy

Question 3

increased BP with ambig genitalia in a female suggests what?

Answer 3

CAH with 11b-OH def and decr bp suggests adrenal insuff

Question 4

most common cause of female pseudohermaphroditism

Answer 4

CAH caused by 21-hydrox def, which causes incr 17-oh progesterone (11B and 3B- hydrox def are other causes)

Question 5

what regulates each of the products of the adrenal cortex?

Answer 5

cortisol and androgens reguated by ACTH; aldosterone regulated by RAAS

Question 6

most common cause of secondary adrenal insuff

Answer 6

iatrogenic caused by supp of the hypothalamus due to longterm exposure to steroids

Question 7

3 different subtypes of 21-hydrox def CAH

Answer 7

classic salt wasting CAH (cortisol and aldo def); simple virilizing CAH (cortisol def); nonclassic CAH (late onset at 4-5 yo with mild cortisol def and no mineralocorticoid involvement)

Question 8

11-b hydrox def

Answer 8

present like 21-hydrox kids byt they are hypertensive and hypokalemic; have incr levels of 11-deoxycortisol aka specific compound S

Question 9

3-b hydrox dehyd def

Answer 9

rare; salt wasting crisis, glucocorticoid def, and ambig genitalia; incr leveles of DHEA and 17-hydroxypregnenolone

Question 10

management of CAH

Answer 10

cortisone to suppress ACTH, mineralocorticoid replacement (fluorocortisol)

Question 11

addison’s disease

Answer 11

autoimmune destruction of the adrenal cortex; may be associated with other autoimmune diseases

Question 12

waterhouse-friderichsen syndrome

Answer 12

septicemia associated with meningococcemia, cause of adrenal insuff

Question 13

adrenal crisis

Answer 13

a medical emergency of adrenal insuff; treat with IV fluids with 5% dextrose in normal saline to correct hyptension and hyponatremia and to prevent hypoglycemia; parenteral steroids are given until the patient is stabilized

Question 14

diff between cushing syndrome and cushing disease

Answer 14

disease is caused by excessive ACTH production from a pit tumor, such as microadenoma; cushing syndrome is caused by adrenal tumors

Question 15

genetics of DM type 1

Answer 15

approx 95% of patients have HLA haplotype DR3 or DR$

Question 16

antibodies that may be seen in type 1 dm patients

Answer 16

antibodies against insulin, glutamic acid decarboxylase, islet cell antibodies

Question 17

DKA is initial presentation of type 1 dm in what percent?

Answer 17

25%

Question 18

honeymoon period of type 1 DM

Answer 18

lasts months to a few years; transient recovery of your islet cells after dx but then goes away

Question 19

somogyi phenomenon

Answer 19

evening dose of insulin is too high cuaseing hypoglycemia in the morning and release of counter-reg hormones (epi and glucagon) which causes high blood glucose and ketones in the morning

Question 20

definition of DKA

Answer 20

hyperglycemia greater than 300 mg/dL with ketonuria and a serum bicard level less than 15 mmol/L or a serum pH less than 7.30

Question 21

hyperkalemia in DKA caused by what?

Answer 21

potassium moves out of cells in the face of acidosis

Question 22

management of DKA

Answer 22

fluids and electrolyte therapy; potassium repletion (even with normal serum potassium); insulin

Question 23

complications of DKA

Answer 23

cerebral edema (due to drop in gluc with tx), severe hypokalemia, hypocalcemia (due to excessive use of potassium phosphate or osmotic losses)

Question 24

presentation of hypothyroidism

Answer 24

suboptimal growth velocity (less than 2 inches per year) with delayed bone age; goiter, myxedema (or puffy skin or dry skin), amenorrhea or oligomenorrhea

Question 25

most common metabolic disorder

Answer 25

congenital hypothyroidism; it is evaluated on new born screen