- Shuffle
Toggle OnToggle Off
- Alphabetize
Toggle OnToggle Off
- Front First
Toggle OnToggle Off
- Both Sides
Toggle OnToggle Off
Front
How to study your flashcards.
Right/Left arrow keys: Navigate between flashcards.right arrow keyleft arrow key
Up/Down arrow keys: Flip the card between the front and back.down keyup key
H key: Show hint (3rd side).h key
PLAY BUTTON
PLAY BUTTON
43 Cards in this Set
- Front
- Back
|
what does the adrenal cortex synthesize, what pathways? 3
|
mineralcorticoids
androgens glucocorticoids |
|
what do the adrenal maintain
|
regulate BP glucose Na and water
regulate sexual development mediation of the bodies response to stress - cortisol |
|
which type of CAH is most common
|
nonclassic - more mild than classic form
|
|
what is the net result of increased production from the adrenal gland
|
cortisol precursors and androgens
|
|
this enzyme is a chromosome 6, HLA linked, cytochrome p450 that is found in ER, it catalyzes the conversation of 17 to 11 - a precursor of cortisol and the conversion of progesterone to deoxycortisone, precursor for aldosterone
|
21 hyroxylase
|
|
this disorder gluocorticoid syntheses remains impaired, deoxycortisol accumulates and causes HTN
|
11-B hyroxylase
|
|
what type of genetic component is CAH
|
autosomal recessive - 1/8 females are affected if both parents are known carriers
|
|
what is a compound heterozyotes form of CAH
|
inheriting two different mutations from both parents
|
|
what is the mild defect inherited by both parents
null mutation inherited from both parents cause what type null mutation and mild defect cause what |
mild - nonclassic
Null - classic salt wasting Null and mild - in between |
|
describe the normal feedback loop
|
hypothalmus secretes CRF - pituitary gland then produces ACTH - which stimulates adrenals to produce cortisol - then feeds back to hypothalamus to stop secretion
|
|
what abnormal feedback loop in CAH
|
block at 21-hydroxylase decreases cortisol production which stimulates adrenals to secrete ACTH - cause hypertrophy of adrenals and overproduction of DHEA
|
|
which deficiency is most common CAH
|
21-OHD second is 11-OHD
|
|
what are symptoms of classic CAH
|
severe
prenatal exposure to potent androgens starting at 7 weeks gestation virilizing the external genitalia of genetic females often result in genetic ambiguity at birth |
|
what are symptoms of non classic CAH
|
mild to moderate deficiency
postnatally have signs of hyperandrogenism - females not virilized at birth |
|
what race is most common for non classic CAH
|
jews
hispanic yugoslavs italians |
|
what are manifestations of CAH classic form
|
virilzation
electrolyte instability - dehydration, vomiting, metabolic alkalosis adrenal crisis - first 4 weeks children/adolescent: precocious puberty rapid growth in childhood, early closure of plates, irregular menses infertility male - testes small or tumors |
|
what do Classic CAH lack
|
cortisol to mount stress response and succumb to minor illness
|
|
what are symptoms of salt wasting
|
feeding issue
FTT low BP vomiting dehydration metabolic acidosis low Na high K adrenal crisis hard to diagnose males at birth bc penis normal |
|
what does female at birth look like
|
encarged clitoris, fusion of labia, urogenital sinus instead of vagina
|
|
what do males with CAH have
|
uterus and fallopian tubes because in utero AMH hormone prevents development but is not blocked CAH
|
|
what are signs and symptoms of mild CAH in females
|
most apparent in adolescent girls and women - irregular or absent menses, virilization or infertility
|
|
what are signs and symptoms of mild CAH in males
|
early beard growth
enlarged phallus and small testes |
|
what are mild CAH symptoms in children
|
early puberty
rapid growth then premature closure of plates severe acne slow recovery from infections mild to mod recurrent sinus or pulmonary infection hyperpigmentation |
|
what are mild CAH symptoms in women
|
cliteromegaly
poorly developed labia hirsutism PCOS |
|
what are mild CAH symptoms in adults
|
HTN - 21HPO
advanced bone age obesity low bone density |
|
in nonclassic CAH what is of excess and what is normal in regards to hormones
|
normal cortisol and adosterone at expense of mild to moderate overproduction of sex hormones
|
|
when should diagnosis be considered in newborns
|
with ambiguous genitalia
|
|
what labs would you assess to determine classic vs nonclassic
|
17-OHP elevated
Plasma renin elevated with 21-OHD low aldosterone with salt wasting elevated progesterone and testosterone ACTH stim positive with 21-OHD low sodium and high k - sale wasting |
|
which tests are abnormal in salt wasting CAH
|
serum electrolytes
plasma renin elevated 21-OHD |
|
how to assess degree of prenatal virlization in females
|
assessment of genitalia
gentiogram - check structure |
|
how do you assess postnatal virlization in males and females
|
bone maturation
serum concentration of adrenal androgens check DHEA, testosterone and androsterone |
|
what is the treatment goals of classic CAH
|
replace deficient steroids while minimizing SE
minimize adrenal sex hormones and gluococorticoids excess, prevent virilization and optimize growth, protect fertility |
|
what is the treatment plan for CAH
|
mineralcorticoid - salt wasting
glucocorticoids sodium chloride replacement stress treatment genital surgery - 2 - 6 months of life in females psychosocial assessment and support |
|
when would you give mineralcorticoids
|
for salt wasting CAH
all newborns with classic CAH should be treated base on BP sodium chloride supplements as needed |
|
what med is the most physiologically similar to coritsol and has lower potential for growth suppression
|
hydrocortisone
|
|
what is the common side effect of hydrocortisone when 17 or 11 HPO are at normal levels
|
cushings
|
|
what are some follow up labs of CAH to see if therapy is adequate
|
electrolytes
17 OHP androstenedione testosterone PRA or renin every 3 months infancy then 4-12 months after |
|
what are some associated problems with CAH treatment
|
acute adrenal insufficiency
accelerated bone growth virilization problems with sexual development precocious puberty reduced fertility testicular masses congenital anomalies |
|
how often should you check bone age
|
first 2-3 years of life or at diagnosis if adequate treatment then every few years
|
|
what are signs and symptoms of acute adrenal insufficiency
|
n/v
pallor cold, moist skin weakness dizziness rapid heart rate rapid breathing abdominal, back or leg pain dehydration hypotension |
|
what are goals of glucocorticoids
|
focus changes from optimizing final height to concerns related to long term SE
goal is to achieve near suppression of 17-OHP |
|
what are goals of mineralcorticoids
|
require close monitoring
salt wasting is not as significant increased risk of HTN rennin should be used to adjust dosages avoid permanent fertility |
|
what common illnesses should you adjust steroids in CAH
|
increase 2-3 x dosage with URI or allergies
any bacterial illness should increase dose and start antibiotics immediately fever - start tylenol and increase dose vomiting - IM injury - IM |
