peds16 Flashcards
mixed gonadal dysgenesis
karyotype with 45XO/46XY mosaicism; ambig genitalia (usually); testes on one side and streak gonad on the other; fallop tubes may be present bilat
true hermaphroditism
ambig genitalia; both ovarian and testicular gonadal tissue; usually 46xx but can be 46xy
increased BP with ambig genitalia in a female suggests what?
CAH with 11b-OH def and decr bp suggests adrenal insuff
most common cause of female pseudohermaphroditism
CAH caused by 21-hydrox def, which causes incr 17-oh progesterone (11B and 3B- hydrox def are other causes)
what regulates each of the products of the adrenal cortex?
cortisol and androgens reguated by ACTH; aldosterone regulated by RAAS
most common cause of secondary adrenal insuff
iatrogenic caused by supp of the hypothalamus due to longterm exposure to steroids
3 different subtypes of 21-hydrox def CAH
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)
11-b hydrox def
present like 21-hydrox kids byt they are hypertensive and hypokalemic; have incr levels of 11-deoxycortisol aka specific compound S
3-b hydrox dehyd def
rare; salt wasting crisis, glucocorticoid def, and ambig genitalia; incr leveles of DHEA and 17-hydroxypregnenolone
management of CAH
cortisone to suppress ACTH, mineralocorticoid replacement (fluorocortisol)
addison’s disease
autoimmune destruction of the adrenal cortex; may be associated with other autoimmune diseases
waterhouse-friderichsen syndrome
septicemia associated with meningococcemia, cause of adrenal insuff
adrenal crisis
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
diff between cushing syndrome and cushing disease
disease is caused by excessive ACTH production from a pit tumor, such as microadenoma; cushing syndrome is caused by adrenal tumors
genetics of DM type 1
approx 95% of patients have HLA haplotype DR3 or DR$
antibodies that may be seen in type 1 dm patients
antibodies against insulin, glutamic acid decarboxylase, islet cell antibodies
DKA is initial presentation of type 1 dm in what percent?
25%
honeymoon period of type 1 DM
lasts months to a few years; transient recovery of your islet cells after dx but then goes away
somogyi phenomenon
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
definition of DKA
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
hyperkalemia in DKA caused by what?
potassium moves out of cells in the face of acidosis
management of DKA
fluids and electrolyte therapy; potassium repletion (even with normal serum potassium); insulin
complications of DKA
cerebral edema (due to drop in gluc with tx), severe hypokalemia, hypocalcemia (due to excessive use of potassium phosphate or osmotic losses)
presentation of hypothyroidism
suboptimal growth velocity (less than 2 inches per year) with delayed bone age; goiter, myxedema (or puffy skin or dry skin), amenorrhea or oligomenorrhea
most common metabolic disorder
congenital hypothyroidism; it is evaluated on new born screen
